Podcasts about Amniocentesis

How to Be Disabled in a Pandemic is the first book to document the experiences of those hardest hit by the COVID-19 pandemic in New York City—disabled people. Diverse disability communities across the five boroughs have been disproportionately impacted by city and national policies, work and housing conditions, stigma, racism, and violence—as much as by the virus itself. Disabled and chronically-ill activists have protested plans for medical rationing and refuted the eugenic logic of mainstream politicians and journalists who “reassure” audiences that only older people and those with disabilities continue to die from COVID-19. At the same time, as exemplified by the viral hashtag #DisabledPeopleToldYou, disability expertise has become widely recognized in practices such as accessible remote work and education, quarantine, and distributed networks of support and mutual aid.  How to Be Disabled in a Pandemic (NYU Press, 2025) charts the legacies of this “mass disabling event” for uncertain viral futures, exploring the dialectic between disproportionate risk and the creativity of a disability justice response. How to Be Disabled in a Pandemic includes contributions by wide-ranging disability scholars, writers, and activists whose research and lived experiences chronicle the pandemic's impacts in prisons, migrant detention centers, Chinatown senior centers, hospitals in Queens and the Bronx, working from bed in Brooklyn, subways, schools, housing shelters, social media, and other locations of public and private life. By focusing on New York City over the course of three years, the book reveals key themes of the pandemic, including hierarchies of disability vulnerability, the deployment of disability as a tool of population management, and innovative crip pandemic cultural production. How to Be Disabled in a Pandemic honors those lost, as well as those who survived, by calling for just policies and caring infrastructures, not only in times of crisis but for the long haul. A full transcript of this interview is available at the link here Mara Mills is Associate Professor in the Department of Media, Culture, and Communication at New York University. Mills is cofounder of the NYU Center for Disability Studies and coeditor of Crip Authorship: Disability as Method. Harris Kornstein is Assistant Professor of Public and Applied Humanities at the University of Arizona. They have published research and essays in Surveillance & Society, Curriculum Inquiry, Wired, and others. Faye Ginsburg is Kriser Professor of Anthropology at New York University. Ginsburg is cofounder of the NYU Center for Disability Studies and author of Contested Lives: The Abortion Debate in an American Community and coauthor of Disability Worlds. Rayna Rapp is Professor Emerita in the Department of Anthropology at New York University, and the author of Testing Women, Testing the Fetus: The Social Impact of Amniocentesis in America and coauthor of Disability Worlds. Learn more about your ad choices. Visit megaphone.fm/adchoices Support our show by becoming a premium member! https://newbooksnetwork.supportingcast.fm/new-books-network

How to Be Disabled in a Pandemic is the first book to document the experiences of those hardest hit by the COVID-19 pandemic in New York City—disabled people. Diverse disability communities across the five boroughs have been disproportionately impacted by city and national policies, work and housing conditions, stigma, racism, and violence—as much as by the virus itself. Disabled and chronically-ill activists have protested plans for medical rationing and refuted the eugenic logic of mainstream politicians and journalists who “reassure” audiences that only older people and those with disabilities continue to die from COVID-19. At the same time, as exemplified by the viral hashtag #DisabledPeopleToldYou, disability expertise has become widely recognized in practices such as accessible remote work and education, quarantine, and distributed networks of support and mutual aid.  How to Be Disabled in a Pandemic (NYU Press, 2025) charts the legacies of this “mass disabling event” for uncertain viral futures, exploring the dialectic between disproportionate risk and the creativity of a disability justice response. How to Be Disabled in a Pandemic includes contributions by wide-ranging disability scholars, writers, and activists whose research and lived experiences chronicle the pandemic's impacts in prisons, migrant detention centers, Chinatown senior centers, hospitals in Queens and the Bronx, working from bed in Brooklyn, subways, schools, housing shelters, social media, and other locations of public and private life. By focusing on New York City over the course of three years, the book reveals key themes of the pandemic, including hierarchies of disability vulnerability, the deployment of disability as a tool of population management, and innovative crip pandemic cultural production. How to Be Disabled in a Pandemic honors those lost, as well as those who survived, by calling for just policies and caring infrastructures, not only in times of crisis but for the long haul. A full transcript of this interview is available at the link here Mara Mills is Associate Professor in the Department of Media, Culture, and Communication at New York University. Mills is cofounder of the NYU Center for Disability Studies and coeditor of Crip Authorship: Disability as Method. Harris Kornstein is Assistant Professor of Public and Applied Humanities at the University of Arizona. They have published research and essays in Surveillance & Society, Curriculum Inquiry, Wired, and others. Faye Ginsburg is Kriser Professor of Anthropology at New York University. Ginsburg is cofounder of the NYU Center for Disability Studies and author of Contested Lives: The Abortion Debate in an American Community and coauthor of Disability Worlds. Rayna Rapp is Professor Emerita in the Department of Anthropology at New York University, and the author of Testing Women, Testing the Fetus: The Social Impact of Amniocentesis in America and coauthor of Disability Worlds. Learn more about your ad choices. Visit megaphone.fm/adchoices Support our show by becoming a premium member! https://newbooksnetwork.supportingcast.fm/public-policy

How to Be Disabled in a Pandemic is the first book to document the experiences of those hardest hit by the COVID-19 pandemic in New York City—disabled people. Diverse disability communities across the five boroughs have been disproportionately impacted by city and national policies, work and housing conditions, stigma, racism, and violence—as much as by the virus itself. Disabled and chronically-ill activists have protested plans for medical rationing and refuted the eugenic logic of mainstream politicians and journalists who “reassure” audiences that only older people and those with disabilities continue to die from COVID-19. At the same time, as exemplified by the viral hashtag #DisabledPeopleToldYou, disability expertise has become widely recognized in practices such as accessible remote work and education, quarantine, and distributed networks of support and mutual aid.  How to Be Disabled in a Pandemic (NYU Press, 2025) charts the legacies of this “mass disabling event” for uncertain viral futures, exploring the dialectic between disproportionate risk and the creativity of a disability justice response. How to Be Disabled in a Pandemic includes contributions by wide-ranging disability scholars, writers, and activists whose research and lived experiences chronicle the pandemic's impacts in prisons, migrant detention centers, Chinatown senior centers, hospitals in Queens and the Bronx, working from bed in Brooklyn, subways, schools, housing shelters, social media, and other locations of public and private life. By focusing on New York City over the course of three years, the book reveals key themes of the pandemic, including hierarchies of disability vulnerability, the deployment of disability as a tool of population management, and innovative crip pandemic cultural production. How to Be Disabled in a Pandemic honors those lost, as well as those who survived, by calling for just policies and caring infrastructures, not only in times of crisis but for the long haul. A full transcript of this interview is available at the link here Mara Mills is Associate Professor in the Department of Media, Culture, and Communication at New York University. Mills is cofounder of the NYU Center for Disability Studies and coeditor of Crip Authorship: Disability as Method. Harris Kornstein is Assistant Professor of Public and Applied Humanities at the University of Arizona. They have published research and essays in Surveillance & Society, Curriculum Inquiry, Wired, and others. Faye Ginsburg is Kriser Professor of Anthropology at New York University. Ginsburg is cofounder of the NYU Center for Disability Studies and author of Contested Lives: The Abortion Debate in an American Community and coauthor of Disability Worlds. Rayna Rapp is Professor Emerita in the Department of Anthropology at New York University, and the author of Testing Women, Testing the Fetus: The Social Impact of Amniocentesis in America and coauthor of Disability Worlds. Learn more about your ad choices. Visit megaphone.fm/adchoices

How to Be Disabled in a Pandemic is the first book to document the experiences of those hardest hit by the COVID-19 pandemic in New York City—disabled people. Diverse disability communities across the five boroughs have been disproportionately impacted by city and national policies, work and housing conditions, stigma, racism, and violence—as much as by the virus itself. Disabled and chronically-ill activists have protested plans for medical rationing and refuted the eugenic logic of mainstream politicians and journalists who “reassure” audiences that only older people and those with disabilities continue to die from COVID-19. At the same time, as exemplified by the viral hashtag #DisabledPeopleToldYou, disability expertise has become widely recognized in practices such as accessible remote work and education, quarantine, and distributed networks of support and mutual aid.  How to Be Disabled in a Pandemic (NYU Press, 2025) charts the legacies of this “mass disabling event” for uncertain viral futures, exploring the dialectic between disproportionate risk and the creativity of a disability justice response. How to Be Disabled in a Pandemic includes contributions by wide-ranging disability scholars, writers, and activists whose research and lived experiences chronicle the pandemic's impacts in prisons, migrant detention centers, Chinatown senior centers, hospitals in Queens and the Bronx, working from bed in Brooklyn, subways, schools, housing shelters, social media, and other locations of public and private life. By focusing on New York City over the course of three years, the book reveals key themes of the pandemic, including hierarchies of disability vulnerability, the deployment of disability as a tool of population management, and innovative crip pandemic cultural production. How to Be Disabled in a Pandemic honors those lost, as well as those who survived, by calling for just policies and caring infrastructures, not only in times of crisis but for the long haul. A full transcript of this interview is available at the link here Mara Mills is Associate Professor in the Department of Media, Culture, and Communication at New York University. Mills is cofounder of the NYU Center for Disability Studies and coeditor of Crip Authorship: Disability as Method. Harris Kornstein is Assistant Professor of Public and Applied Humanities at the University of Arizona. They have published research and essays in Surveillance & Society, Curriculum Inquiry, Wired, and others. Faye Ginsburg is Kriser Professor of Anthropology at New York University. Ginsburg is cofounder of the NYU Center for Disability Studies and author of Contested Lives: The Abortion Debate in an American Community and coauthor of Disability Worlds. Rayna Rapp is Professor Emerita in the Department of Anthropology at New York University, and the author of Testing Women, Testing the Fetus: The Social Impact of Amniocentesis in America and coauthor of Disability Worlds. Learn more about your ad choices. Visit megaphone.fm/adchoices

It's a test for fetal problems, usually done between 16 and 20 weeks of pregnancy. A bit of fluid surrounding the fetus is removed and used to test for about 40 fetal abnormalities. Find out how it's done and what results can mean. Learn more at yourpregnancyweekbyweek.com.

In obstetrics and medicine, uncovering the right diagnosis or understanding a patient's medical history often involves piecing together subtle clues, much like solving a puzzle. While patients are typically reliable historians, there are moments when they may not recall specific events, procedures, or reasons for past medical decisions, especially during high-stress situations like childbirth or complex treatments. This can leave gaps in the story that require careful investigation and interpretation by the ob/gyn or midwife. In these moments, healthcare providers must rely on a combination of patient accounts, medical records, and clinical intuition to reconstruct the sequence of events. By asking targeted questions, reviewing past notes, or identifying patterns in a patient's symptoms, clinicians can often uncover the critical details needed to make informed decisions. This detective work is essential not only for understanding what happened in the past but also for shaping the best course of action for the future, ensuring safe and personalized care. In this episode, we'll explore compelling examples from our practice where connecting the dots and uncovering hidden clues led to key insights about a patient's past. These stories highlight the art of medical investigation and the critical thinking required to provide exceptional care. Amniocentesis, once a hallmark of prenatal diagnostics, has become a relic of an earlier era in reproductive healthcare. The procedure, which involves extracting amniotic fluid with a needle to screen for genetic conditions, was groundbreaking in its time. But advances in non-invasive prenatal testing (NIPT) have rendered it largely unnecessary. NIPT, which analyzes fetal DNA from a simple maternal blood draw, provides highly accurate results for common chromosomal abnormalities without the risks of miscarriage associated with amniocentesis. The shift away from invasive procedures reflects a broader trend in medicine: the prioritization of safer, less disruptive technologies that yield similar or superior outcomes. While amniocentesis may still have a role in certain rare cases, its decline underscores how innovation can relegate once-essential tools to the margins of clinical practice, reshaping the landscape of prenatal care. Your feedback is essential to us! We would love to hear from you. Please consider leaving us a review on your podcast platform or sending us an email at info@maternalresources.org. Your input helps us tailor our content to better serve the needs of our listeners. For additional resources and information, be sure to visit our website at Maternal Resources: https://www.maternalresources.org/. You can also connect with us on our social channels to stay up-to-date with the latest news, episodes, and community engagement: Twitter: https://twitter.com/integrativeob YouTube: https://www.youtube.com/maternalresources Instagram: https://www.instagram.com/integrativeobgyn/ Facebook: https://www.facebook.com/IntegrativeOB Thank you for being part of our community, and until next time, let's continue to support, uplift, and celebrate the incredible journey of working moms and parenthood. Together, we can create a more equitable and nurturing world for all.

  Amniocentesis, once a hallmark of prenatal diagnostics, has become a relic of an earlier era in reproductive healthcare. The procedure, which involves extracting amniotic fluid with a needle to screen for genetic conditions, was groundbreaking in its time. But advances in non-invasive prenatal testing (NIPT) have rendered it largely unnecessary. NIPT, which analyzes fetal DNA from a simple maternal blood draw, provides highly accurate results for common chromosomal abnormalities without the risks of miscarriage associated with amniocentesis. The shift away from invasive procedures reflects a broader trend in medicine: the prioritization of safer, less disruptive technologies that yield similar or superior outcomes. While amniocentesis may still have a role in certain rare cases, its decline underscores how innovation can relegate once-essential tools to the margins of clinical practice, reshaping the landscape of prenatal care. Your feedback is essential to us! We would love to hear from you. Please consider leaving us a review on your podcast platform or sending us an email at info@maternalresources.org. Your input helps us tailor our content to better serve the needs of our listeners. For additional resources and information, be sure to visit our website at Maternal Resources: https://www.maternalresources.org/. You can also connect with us on our social channels to stay up-to-date with the latest news, episodes, and community engagement: Twitter: https://twitter.com/integrativeob YouTube: https://www.youtube.com/maternalresources Instagram: https://www.instagram.com/integrativeobgyn/ Facebook: https://www.facebook.com/IntegrativeOB Thank you for being part of our community, and until next time, let's continue to support, uplift, and celebrate the incredible journey of working moms and parenthood. Together, we can create a more equitable and nurturing world for all.

Text me!Nana is back in California! They're discussing Meredith's Day 5 4BB and Day 7 4BA embryos (better known at Chip & Dale); the nail-biting wait on genetic test results, whether or not to learn the sex, and if so, WHEN?TOPICS COVERED0:00 - Introduction and Catch Up 04:09 - Should I find out the sex of my embryos? 16:10 - “The Parents Who Want Daughters and Daughters Only” by Emi Nietfeld22:30 - The Birth of the BLASTOSHOWER23:56 - Survival Rates of Female/Male Embryos 33:34 - Processing Grief Over Lost Eggs and Embryos ARTICLES DISCUSSEDThe Parents Who Want Daughters and Daughters Only, Emi Nietfeld for SlateSurvival of the Fetus: Why Males Have it So Rough, LiveScienceFemale embryos less likely to survive to birth, University of OxfordEmbryo quality, ploidy, and transfer outcomes in male versus female blastocysts, National Institutes of HealthPLACES MENTIONEDGlen Ivy Day SpaKookaburra LoungeSupport the Show.CONNECT WITH THE BACKUP PLANWebsite: https://backupplanpod.comYouTube: https://www.www.youtube.com/@backupplanpodInstagram: https://instagram.com/backupplanpodTikTok: https://www.tiktok.com/@backupplanpodFacebook: https://www.facebook.com/backupplanpod CONNECT WITH MEREDITHInstagram: https://instagram.com/meredithk8 WORK WITH THE BACKUP PLANVisit https://backupplanpod.com/work-with-me for brand partnerships and business inquiries.Created, produced and hosted by Meredith Kate, co-produced by Julian Hagins.@backupplanpod on Instagram, TikTok, Pinterest, Facebook, and YouTube.Visit https://backupplanpod.com for show notes, transcripts, partner links, and our newsletter.

The gender pain gap has been in the news cycle recently with the Victorian government announcing an inquiry into women's pain. Chantal's story mirrors the experience of thousands of Australian women; a history of painful periods that had been dismissed. She was diagnosed with stage three endometriosis when she had trouble conceiving naturally. After a laparoscopy and no success with natural conception, she started the IVF journey and talks at length about the emotional and mental challenges she faced during four failed embryo transfers. She conceived on the fifth cycle and was bedridden for the first trimester with HG which was dismissed by her obstetrician. After a week-long hospital stay for fluids she chose a new obstetrician and despite his support throughout pregnancy, in the third trimester suggestions of a planned caesarean or induction to prevent stillbirth prompted Chantal to avoid her appointments. She went into spontaneous labour at 41+1 and after a quick and intense labour she birthed her baby girl without intervention. _______________ If you're considering The Birth Class, now is the time to buy. It just got bigger and better thanks to new content that enhances your birth education and preparation experience, including: A cheat sheet for your birth partner. This simple outline takes your support person through early and active labour – what to expect, how to support and what to say when challenges arise Images of birth positions – the ideal addition for visual learners 3 meditations to release tension, foster trust and navigate a change of plans. An illustrated guide to antenatal expressing – everything you need to know about collecting and storing colostrum. See omnystudio.com/listener for privacy information.

On last week's podcast episode, we chatted about Down syndrome, which sparked several questions about the amniocentesis procedure. So we discussed it at length during this week's podcast episode. An amniocentesis is a procedure that entails removal of amniotic fluid through introduction of a sterile needle into the uterine cavity, typically under ultrasound guidance. If you've been offered an amniocentesis during your pregnancy, want to learn about reasons they are done, or want to know more about what happens during and after the procedure, this is the episode for you. Download and listen now!

Almost 1 in 5 babies spend time in the Special Care Nursery (SCN) or Neonatal Intensive Care Unit (NICU) in Australia. For the mothers of these babies, postpartum is very different to what they planned or hoped for and there's often a distinct grief that accompanies the stress of having an unwell or premature baby. We can encourage new mothers to organise meal trains and lie down at every opportunity but we also need to make space for those who are sitting for hours on end in hard hospital chairs, heart aching for their baby and juggling hospital and family life. See omnystudio.com/listener for privacy information.

Thousands of families every year experience Termination for Medical Reasons (TFMR). We know that women's stories can offer information, guidance and immense comfort to those currently navigating their unborn baby's diagnosis and it's for this reason that Marian wanted to share her story. She takes us step by step through her first pregnancy with baby Emmy who had a rare genetic disorder, confirmed at 29 weeks gestation after weeks of tests and investigations. Marian and her husband chose to terminate for medical reasons with the support of the hospital's ethics team and Emmy was born days later. Marian's postpartum experience was grief-filled but she was also motivated to take care of herself so she could honour Emmy. When she fell pregnant again she embraced everything about her pregnancy and experienced a joyful and redeeming birth with her rainbow baby, Leni.  _______________________________________ Prepare for a positive birth experience with my new book .

Cristel es oyenta del podcast, está embarazada de su hija Ona, y ya estuvo embarazada antes con su hijo Yan. En el primer trimestre, durante una eco de control, le detectaron un alto riesgo de síndrome de Down. Esta sospecha se mantuvo después de hacerle un análisis de sangre, y se confirmó con una amniocentesis. Estando ya en la semana 17, y después de investigar mucho por su cuenta y ver sus diferentes opciones, Cristel y su pareja optaron por una interrupción voluntaria de su embarazo. Estando ya tan avanzada la gestación, se programó una fecha de inducción para tener un parto vaginal. Cristel nos cuenta en gran detalle sus sensaciones durante todas esas semanas, la incertidumbre, la pena, la ternura, el duelo y la gratitud

Kelsey chats to Kristen, who shares her story of terminating a pregnancy for medical reasons. First trimester prenatal testing (NIPT, Amniocentesis) revealed a diagnosis of Trisomy 21 (Down syndrome), and she underwent a procedural/surgical abortion at the beginning of the second trimester. Termination of a wanted pregnancy involves a whole host of complicated emotions. She shares what it was like for her and her husband, including receiving care from private-religiously affiliated hospitals, and their journey to conceiving another child post-termination. Resources @TFMRMamas - Instagram and Facebook (Info, Support Groups etc) @TheTFMRDoula Prenatal Testing for Down Syndrome Info - Down Syndrome Australia Lifeline - 13 11 14 is available for free, 24/7 crisis counselling if you need.

Hi, Welcome to War Stories from the Womb: In this episode, you'll hear how my guest rejected her doctor's insistence on a hysterectomy, and saved her own life.Today you'll hear how my guest learns to trust her body and advocate for herself--a critical skill in any medical procedure, maybe even more critical in childbirth; she had four births and each was visited by something unexpected that required her to develop these skills.  She also shares how alternative medicine, in particular, acupuncture, helped to relieve chronic pregnancy-related pain when no western medical approach worked.  We are also joined by an associate professor of gynecology and obstetrics from Johns Hopkins who shares insights about current theories and approaches to preeclampsia. What follows is the first part of our conversation.See Extended Show Notes.

El relato que tengo para ti hoy es el de una mujer que tiene dos niñas y que ha vivido dos partos similares, pero también con grandes diferencias. Concretamente, partos hospitalarios inducidos y con epidural. Pero el segundo parto de Laura se complicó de una forma inesperada. Después de nacer su niña, y pasadas unas horas desde el parto, sus piernas todavía no recuperaron la sensibilidad ni la movilidad. Estuvo una semana en el hospital, durante la cual la visitaron un montón de especialistas (anestesistas, neurólogos, etc), pero ninguno era capaz de darle un diagnóstico o explicación de por qué después de darle la epidural, no había desaparecido su efecto. Laura pasó un segundo postparto complicado, sin respuestas, sin saber si iba a recuperar la autonomía y la movilidad de las piernas, haciendo pruebas y rehabilitación. Tuvieron que pasar 3 meses hasta que por fin se sintió recuperada. Este es un caso infrecuente de complicaciones de la anestesia epidural, pero Laura me contactó para compartirlo conmigo y contigo en este programa, para dar visibilidad a este tipo de circunstancias. Esta es la historia de Laura Serrato.

La Comunitat es de las primeras autonomías en realizar los test prenatales en los hospitales públicos con lo que se evitan muchas amniocentesis

In episode 346 Mikaela discusses her eating disorder and tendency to over exercise which prompted her body to stop menstruating. She was intent on conceiving so she stopped exercising, ate well and then fell pregnant within six months. Her first birth was positive and after feeling indifferent to breastfeeding, she was surprised to discover that she really enjoyed it and went on to feed for two years. Her second baby was diagnosed with omphalocele (when the bowel grows outside the abdomen) at her 20-week scan and after an amniocentesis and many specialist appointments, baby Macy was born via caesarean and had successful surgery soon after.

There are different types of concerns that can arise when performing genetic testing; to use an analogy, there could be large paragraphs of text that accidentally repeat themselves, which alters the meaning of a chapter in a book, or there could be single letter changes in important sentences that change the meaning of an important thought. Our geneticist, Dr. Tamar Goldwaser, talks today about those latter changes: single gene mutations, and how we are able to detect them during pregnancy.

It's always great to talk with MFM's geneticist, Dr. Tamar Goldwaser, to learn about the fastest growing area of study in healthcare, genetics. In part one of this episode, Dr. Fox asks Dr. Goldwaser to describe the differences in genetic and prenatal tests that can be performed to learn more about a baby's genetic predispositions and potential disorders prior to birth. There are many different types that reveal different pieces of information, so hearing it from the doctor who will interpret your results is always beneficial.

Join me for today's episode where I hear from Lisa Penny aka Fertilityism. Lisa is a qualified nutrition coach who specialises in women's health and fertility. Through her own experiences, she has a deep understanding and knowledge of boosting fertility naturally with the foods to nourish our bodies and why. I have to say I love Lisa's philosophy centres on nourishment from within – I'm all about that!! Her work isn't the reason we're chatting though. Lisa, who is mum to 2 year old Milo, is finally pregnant following a natural loss and subsequent IVF treatment since having Milo. During this pregnancy, Lisa had an amniocentesis which is an invasive test you may be offered during pregnancy to check if your baby has a genetic or chromosomal condition. As you'll hear this is something we explored when pregnant with Wren and when I was researching I couldn't find too much about it so I'm really honoured that Lisa is sharing her story with us and I hope it helps you if you have or may experience this in the future, or simply because it's good to know so you can understand and support others. A couple of things I mentioned in the episode and promised to link to. Wren's birthday presents ASDA shop 8ft trampoline (affiliate link) NIPT Testing Episode explaining more about NIPT testing with Dr. Donna Fullerton, Consultant Clinical Scientist in charge of NIPT at Nottingham Universities Trust. If you are finally pregnant or parenting you can find out more about the support I offer at www.catstrawbridge.com/support. Thank you to sponsors TMRW Life Sciences. TMRW has created the world's first and only automated platform for the safe management and care of the frozen eggs and embryos used in IVF. Find out more here. Much love, Cat x @tryingyears @finallypregnant

In this episode, we review the high-yield topic of Chorionic Villous Sampling / Amniocentesis from the Obstetrics section. Follow Medbullets on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets

Ultrasound, AFP, NST, CST, CVS, AMNIOCENTESIS, CORDOCENTESIS & many others

This guideline sets a series of evidence-based standards to ensure a high level and consistency of practice in the provision and performance of amniocentesis and chorionic villus sampling (CVS). 1. Key recommendations (00:34) 2. Aim (02:17) 3. Background (02:52) 4. Identification and assessment of evidence (05:36) 5. How should care be organised in providing amniocentesis and CVS? (6:38) 6. What are the additional risks associated with invasive testing? (09:44) 6.1 What is the additional risk of miscarriage associated with amniocentesis and CVS? (09:51) 6.2 What are the additional risks associated with invasive testing? (23:19) 7. At what gestation should amniocentesis and CVS be carried out? (24:24) 7.1 At what gestation should amniocentesis be carried out? (24:32) 7.2 When should CVS be carried out? (27:24) 8. What are the considerations when performing amniocentesis or CVS for multiple pregnancy? (29:30) 9. What is the role of third trimester amniocentesis? (37:44) 10. What are the risks of mother to child transmission of infection? (40:33) 11. Recommendations for future research (47:24) 12. Auditable topics (47:44) 13. Useful links and support groups (48:57) Disclosures of interest (50:33) Funding (50:49) References (51:30)

In today's episode, Jessie talks about her decision to have an amniocentesis in her second pregnancy. - - - - - - - - -  If you liked this episode of To Birth and Beyond, tell your friends! Find us on iTunes and Stitcher to rate/review/subscribe to the show. Want more? Visit www.ToBirthAndBeyond.com, join our Facebook group (To Birth and Beyond Podcast), and follow us on Instagram @tobirthandbeyondpodcast! Thanks for listening and joining the conversation! Show Notes: 1:35 - What we are talking about today 2:15 - Jessie looks back on her own story 3:25 - Jessie explains why finding out about her second pregnancy was such a difficult time 8:34 - What led Jessie and her spouse to an Amniocentesis 12:26 - How Jessie felt following the decision  13:50 - How the Amniocentesis went/felt 15:28 - A message to the parents considering decisions like this 16:22 - Wrap up

In today's episode, Jessie talks about her decision to have an amniocentesis in her second pregnancy. - - - - - - - - -  If you liked this episode of To Birth and Beyond, tell your friends! Find us on iTunes and Stitcher to rate/review/subscribe to the show. Want more? Visit www.ToBirthAndBeyond.com, join our Facebook group (To Birth and Beyond Podcast), and follow us on Instagram @tobirthandbeyondpodcast! Thanks for listening and joining the conversation! Show Notes: 1:35 - What we are talking about today 2:15 - Jessie looks back on her own story 3:25 - Jessie explains why finding out about her second pregnancy was such a difficult time 8:34 - What led Jessie and her spouse to an Amniocentesis 12:26 - How Jessie felt following the decision  13:50 - How the Amniocentesis went/felt 15:28 - A message to the parents considering decisions like this 16:22 - Wrap up

In this week's episode I interview Nat, a solo mum by choice. After having an ovarian tumour removed at 17, she knew that fertility issues would be something she needed to consider in the future. When she turned 30, she started investigating her options and by 32 she was seeing a fertility specialist at Monash IVF. Her first round of IVF resulted in a heterotopic pregnancy but her second was successful. When baby Harry turned one, she fell pregnant with Hudson and began a challenging journey involving a possible trisomy 13 diagnosis, genetic counselling, amniocentesis and preeclampsia.

Weights in Pregnancy, Ultrasounds, Biophysical Profile, Nonstress Test (NST), Contraction Stress Test (CST), Amniocentesis, Cordocentesis, Chorionic Villus Sampling (CVS), Quad Marker Screening, & Maternal Serum Alpha-Fetoprotein (MSAFP) Date: 05-14-2021

Recapping episode 10 of Lost--Raised by Another.

Prenatal Screening is such a complex discussion, so we have brought Dawn, who is a genetic counsellor at Life Labs to review the reasons some families may choose to get prenatal screening done in their pregnancy, and what options are available for families.  We discuss the differences between the options so that hopefully you can choose the option that is right for you!    Check out Life Labs website for more great information! http://www.lifelabsgenetics.com/Panorama   www.shefoundhealth.ca

Do you have a child with tetralogy of Fallot (ToF)? Do you wonder what that child's life might be like? Do you ever worry about how you will help your child move beyond childhood into adulthood where your child will be in charge of his/her own healthcare?Deborah Meisten and her husband are the parents of a baby who was born with tetralogy of Fallot (TOF). Deborah and her husband are in healthcare. She is a pediatric nurse practitioner and her husband is a pediatrician. Their son is now 16 years old. The family is preparing for the future to empower their son to transition to age-appropriate health care responsibilities.In this episode of "Heart to Heart with Anna," Deborah shares with Anna what her heart journey has been like, some advice she's gained along the way, and ways she, her husband, and her son's cardiologist have worked to help him transition from cardiac care as a child to transferring that care onto him.Links to 'Heart to Heart with Anna' Social Media and Podcast Pages:Apple Podcasts Facebook YouTube Instagram WebsiteSupport the show (https://www.patreon.com/HearttoHeart)

This episode covers amniocentesis!

No te pierdas la entrevista con el Dr. José Santiago, perinatólogo en el Centro Médico Episcopal San Lucas por Radio Leo 1170. Tema: Amniocentesis y condiciones riesgosas para embarazadas.

The role of genetic counseling in reproductive medicine is complicated. There are misunderstandings about how genetic counseling works. In this episode, Jill Fischer, the Director of the Genetic Counseling program at Kean University discusses misconceptions about genetic counseling.

In the fourth and final episode of the prenatal genetics mini series, Dr. Fox is joined by Dr. Rebarber to discuss two types of invasive prenatal genetic testing: CVS and amniocentesis tests. Through the episode, they explain why a mother would decide to undergo these tests, what they can detect, how they are performed, and why it’s just not that common for maternal fetal medicine specialists to offer CVS or amniocentesis tests.

On today's episode, Dr Joseph Sgroi (OBGYN) talks with Vanessa about her birth story. Vanessa's birth story features discussions around NIPT testing, nuchal translucency, amniocentesis, induction, syntocinon, vaginal birth, postnatal anxiety, braxton hicks, External cephalic version (ECV), prostaglandin.Dr Joseph Sgroi is a highly experienced obstetrician, gynaecologist and fertility specialist in Melbourne. You can find Dr Joseph Sgroi on Instagram @drjosephsgroi or his website at www.drjoseph.com.au.This episode is proudly brought to you by Tiny Hearts Education; our mission is to bring education to all Australian parents through first aid and birthing courses so they can move through pregnancy, childbirth and parenthood with confidence. Visit www.tinyheartseducation.com for more information.

We at 'Conversations in Anthropology' hope you are all surviving and thriving as we bring you another episode, recorded by our very own David Boarder Giles during a (pre-pandemic) trip to Turtle Island (aka North America) and the American Anthropological Association annual meeting. In this episode, we hear from Rayna Rapp, Faye Ginsburg and Risa Cromer, three anthropologists who have each made major contributions to our understandings of gender, reproduction and disability. Rapp and Ginsburg are both Professors of Anthropology at New York University, where Ginsburg is also the Director of the Graduate Program in Culture and Media. Cromer is Assistant Professor in Anthropology at Purdue University. Each scholar has a fearsome biography to reckon with, and listeners may already be familiar with Rapp's book 'Testing Women, Testing the Fetus: The Social Impact of Amniocentesis in America' (1999) and Ginsburg's 'Contested Lives: The Abortion Debate in an American Community' (1989). In this fascinating and wide-ranging discussion, our three guests discuss many topics including how, whether in life or academia, you often don't know what the universe has planned for you. -- Conversations in Anthropology is a podcast about life, the universe, and anthropology produced by David Boarder Giles, Timothy Neale, Cameo Dalley, Mythily Meher and Matt Barlow. This podcast is made in partnership with the American Anthropological Association and supported by the Faculty of Arts & Education at Deakin University. Find us at conversationsinanthropology.wordpress.com or on Twitter at @AnthroConvo

En el podcast de hoy hablamos de manera distendida e informal de las dificultades más comunes con las que nos podemos encontrar en el embarazo. Náuseas, ardores, cansancio, dolores pélvicos, varices… ¿qué podemos hacer para sobrellevar estas molestias? También comentamos acerca de las diferencias entre los cinturones pélvicos y las fajas posparto, la importancia de la salud oral durante el embarazo, y muchos más temas que seguro te van a interesar si estás embarazada o planeas estarlo.

Russ Altman: Today on The Future of Everything, the future of detecting DNA in your blood.Now DNA is the building block of life. It is a relatively simple long molecule or polymer made out of four components or DNA bases which have one letter abbreviations, the famous ATCG, which stand for their chemical names. It's like a string of beans, beads, beads, but it is long. A human genome is made of about three billion DNA bases, divided into 23 chromosomes. So if you add up the beads in each chromosome, you get about three billion. You get a genome from mom and you get one from dad. So you have two copies of the genome, mostly the same but obviously not identical, or six billion total.Now DNA contains the blueprints for how your cells live, how they grow, how they interact with other cells, and like a computer program, it allows the cell to perform simple computations to make decisions about when and where things happen.If this goes wrong, you can get cancer. Mutations in the DNA cause the computations and decisions to go wrong.Other things can happen too. In the last ten years, researchers have learned that they can detect DNA in the blood. Now we knew that the cells in the blood had DNA, so that was not surprising, but what was surprising is that there is sometimes DNA from other cells in the body, often cells that have died and just released their DNA into the bloodstream. This is sometimes called cell-free DNA because it is floating in the blood and it's not really part of a cell. Although this may seem like it's junk, it offers evidence of lots of other processes going on in the body, processes diverse as cancer, pregnancy, stress on organs, or even death and many others.Dr. Stephen Quake is a professor of Bioengineering, Applied Physics and Physics and Stanford University. Steve pioneered the detection of DNA in the blood and some its first applications.Steve, what drove your interest in detecting DNA, and what was the first demonstration that this would actually be useful?Stephen Quake: Well, my interest came actually when I became a father. My wife and I were in to see the doctor, and the doctor says you guys should think about getting amniocentesis. And it was seemed like a theoretical question and something we have time to think about. We said yeah, okay, that sounds like the right thing if recommending it.Russ Altman: And this is a super risky procedure in many ways. A needle goes into the uterus near the baby to extract fluids.Stephen Quake: Big needle right in the mom's belly, right next to the fetus to try to grab a few cells, and so to do genetic testing. And we said yeah, it sounds like a good idea, thinking we schedule another appointment for it. Next thing we knew, the guy was turning around with a giant needle, plunges it right into my wife's belly,Russ Altman: Whoa.Stephen Quake: Yeah, whoa, exactly. That was our response. And it's the response of many people who undergo that certain invasive testing. And not surprisingly, there's risk associated with doing that testing. Sometimes, you lose the baby and other health problems that might happen.Russ Altman: How far into the pregnancy were you?Stephen Quake: That's typically done, I don't know, around 14 weeks, something like that, 15 weeks, somewhere around there. And so that sensitized me to holy cow, there's a problem here that you're asking a diagnostic question, and there's a lot of risk associated with it. And so I began to think are there ways to ask these genetic questions and do diagnostics without adding risk? And I eventually stumbled upon this old scientific literature about this cell-free DNA that you were mentioning, which, as it turns out, was first discovered as a phenomenon in 1948.Russ Altman: That's before Watson and Crick even articulated the importance of DNA for genetics.Stephen Quake: It's before the structure, and it's before people knew. It's roughly contemporary people first realized that DNA was the molecule of inheritance.Russ Altman: Right.Stephen Quake: Oswald Avery just that same year was working that out. So it was blood chemistry to those guys who did it. But the field stayed alive, and it was mostly people doing cancer research. And eventually, it was figured out that when you're pregnant, some of the DNA in your blood comes from the fetus, and that was worked out in the late 1970s. And –Russ Altman: And so this is not a large amount, I'm guessing.Stephen Quake: It's not much, just a few percent of what's there, so it's a very challenging measurement problem and the decade-long search to try to figure out how to really use that to build a diagnostic that would allow you to understand the genetics of the baby without having to risk the baby's life. And we saw that at Stanford, and it was through the work of a really terrific graduate student in my lab when the bioengineering department was young, Christina Fan. And that has now been the first real clinical application of cell-free DNA in diagnostics, and that's how I got into it, to answer your question.Russ Altman: So in that initial demonstration or in your first industrial translation, what are the things that we can actually detect from the DNA of a fetus in the mom's blood?Stephen Quake: Well, when we published the paper on this, started getting press inquiries. When is this gonna be available in the clinic? I said, I don't know, decades, something like that.Russ Altman: That's usually the answer.Stephen Quake: It takes a long time, right. It turns out people jumped on like you wouldn't believe. Clinical trials were launched immediately. Within three years, the first real commercial diagnostic products had been launched, and now it's four million women a year, something like that, get the test, and the use of amniocentesis has plummeted.Russ Altman: And so now you do this as a screening before you make the decision about the amnio. Is that the general use of it?Stephen Quake: That was the initial indication, and it's very quickly moving to replacing amnio completely.Russ Altman: Completely, yeah. And what kind of things can we diagnose in the fetus these days?Stephen Quake: So the major genetic disorders you have for live births are things like Down syndrome; that's number one. And it's an aneuploidy is what it's called technically, means the extra copy of a chromosome. And there's a few other disorders, which are extra copies of chromosomes that are also detected with this approach.Russ Altman: Awesome. So that has had big-time market impact, and it's changing people's lives. I think it's on the street now. People know you can get this blood test instead of the amnio, so it didn't stop there. Now you had this hammer, and it worked. You hit one nail. What was the next nail you guys turned your attention to?Stephen Quake: Well, after we published that, word got around Stanford that I was interested in non-invasive diagnostics. And I got a call one day from Hannah Valantine, who's a cardiologist –Russ Altman: Great cardiologist.Stephen Quake: Yep, and she says, well Steve, we got a similar problem in heart transplants. We give people a new heart, and after the operation, we then go biopsy that new heart and rip out pieces of the tissue to make sure it's not being rejected by the body. And we're doing that every couple of months. And so is there a blood test that could replace that? Same sort of problem, patients were having this painful, risky procedure, and there was a question of whether it could be replaced by a simple blood test. And so we thought about that a bit, and –Russ Altman: The key opportunity here is that the DNA and the heart that belongs to the donor is not gonna match the DNA of the person who received the heart, and, like the baby and the mom, because those are different DNAs, you have a chance of picking it up.Stephen Quake: Yeah, the key there is that the DNA is different. A little different with the baby and the mom because we don't use differences in their DNA. But in the case of the transplant, absolutely. The whole principle is based on there being different genomes of every cell in the heart compared to other cells in the recipient's body. And we monitor those so-called polymorphisms, those changes.Russ Altman: And so you went after this, and you were indeed able to show that people who were in rejection were spilling, so to speak, the heart DNA into the blood, and maybe we can avoid some of those biopsies.Stephen Quake: Absolutely. So we did a proof of principle study with some bank samples she had, and then we wrote a grant together and were able to do a very large study on both heart and lung transplants where pretty much every transplant patient at Stanford for those two organs was enrolled in our study over a period of three years, and were able to validate it. It was amazing. One of my kids was in elementary school at the time, and there was a new family who was in the class that year. And at the end of the year, we got a note around saying that, well, there's a family that's in town because they were at the Ronald McDonald House. One of their kids was in the hospital and very ill, and would anyone wanna put them up for the last couple of months because their time had run out there. And so we invited them –Russ Altman: Took them in.Stephen Quake: to our house, yeah, and very interesting family. They were immigrants from Africa. The father had been a nurse there, had some medical training and knew that when his son was infant and very ill that needed serious help and eventually got him to Stanford where the son had had a heart transplant.Russ Altman: Whoa.Stephen Quake: And we were talking around the dinner table one night, and the dad says well, and we're just so proud to be part of this study where people are trying to figure out if they can replace the biopsies. And we enrolled our son in it and drew the blood. I said that's my study. It was amazing and felt very good about it.Russ Altman: Of course, of course.Stephen Quake: And now that's available. So there's now tens of thousands of people every year who are getting that test, and it's saving a lot of pain and suffering for those patients.Russ Altman: This is The Future of Everything. I'm Russ Altman. I'm speaking with Dr. Steve Quake about detecting DNA, and at this moment, detecting DNA in transplant, hoping to detect rejection. So does the test detect rejection potentially earlier than the old-fashioned biopsy approach would?Stephen Quake: It does, and we've proved that, absolutely. You see rejection weeks, if not a month, earlier than the biopsy.Russ Altman: And then presumably, that gives the docs more option for changing the immunosuppression.Stephen Quake: Oh, absolutely because yeah, as you mention, all these patients are immunosuppressed to try to prevent rejection, and too much of that, and they'll get an infectious disease. Too little of that, you have rejection. So they can dial up the immunosuppressants a little bit and try to avoid the rejection event, and that's much better for the patients. Once they hit rejection, all sorts of bad things happen, and so the whole thing is trying to keep them properly suppressed.Russ Altman: And just to flesh it out a little bit, how frequently are they getting these blood draws? Is this every six months or every three months or –Stephen Quake: The standard of care for the invasive biopsies was every two months, and that's where they initially matched it. But this is the sort of thing that can and should be done more frequently, and I think it's gonna change the way people treat the patients over time.Russ Altman: I know that there are more applications, and I'm interested to know which ones you wanna talk about, but let's talk about one that fascinates me, which is the detection of infectious agents in the blood. Can you tell me how this technology has been used in that regard and what's the future look like?Stephen Quake: Yeah, so when we were doing the large transplant study, my post doc at the time, Ian De Vlaming, was looking at all the sequencing data very carefully and realized that not all of the sequence reads off the sequence that were mapping to the human genome. And he said maybe 98% of it's mapping; there's one or 2% that aren't. And I said that's great. It means we're not having a lot of contamination and it's all good, and he didn't let it go with that, thank goodness. And he started looking at those things that weren't mapping, and he realized it wasn't contamination, and they actually were not human, and it was part of the microbiome of these individuals. So the bacteria and the viruses and funguses that live in our body also release cell-free DNA, and we were measuring that as well. And he realized that we could use that to monitor things like what happens to your microbiome when your immune system gets turned offRuss Altman: Right, because a lot of folks —Stephen Quake: Because a lot of patients are immunosuppressed, exactly.Russ Altman: Right.Stephen Quake: And then we realized ‘cause some of them are getting infectious disease, we could also see infectious disease. And so that has evolved into a new kind of infectious disease diagnostic, which is hypothesis free. You don't have to test for a particular thing. You're essentially testing for a thousand infections all at once, and it's just now reached commercial development. We're seeing the first peer-reviewed studies showing how to use it, and it's a very exciting innovation for infectious disease.Russ Altman: People might find this surprising so let's just unpack this a little bit. We know that there are some bacteria that live in our gut, and we've always expected to see them there. Many of us have assumed that my blood should be pretty much infection free. That's not where the bacteria and the viruses live. I guess the first question is how much of a surprise, what do you see in normal people who are not immunosuppressed, and how do we interpret this? Do we know that these are diseases? Are these pathogens causing problems, or might they be part of some ecosystem of health?Stephen Quake: Yeah, all good questions. So a fun way to think about it is to do an order of magnitude calculation. Could we talk about calculations here?Russ Altman: Yes, this is something that physicists do, folks.Stephen Quake: So there's a statistic going around by the microbiome people. You've got 10 times more bacterial cells in your body than you do human cells. If you take that at face value and you say well, the human genome is 1,000 times longer. You said three billion base pairs, then the typical bacterial genome, which about three million base pairs. You do the math on that, and you say by mass, all the DNA in our body is 99% human, 1% bacterial. And so if you were to mush this all up in a blender, purify the DNA out, that's what would come out.Russ Altman: And that matches what your post doc found.Stephen Quake: Yes, exactly.Russ Altman: So are these normal signs? Are these normal organisms, or are these things that we have to run to the doctor and get treated for?Stephen Quake: The vast majority of it, the vast majority of is our normal microbiome, bugs that live with us commensally and happy, equilibrium, with us as humans.Russ Altman: I'm guessing you saw viruses or bacteria that were either entirely novel or not appreciated as living in humans?Stephen Quake: Absolutely, we have discovered traces of novel organisms that is an area of ongoing research in the group to try to understand what they are and where they fit into the tree of life.Russ Altman: This is The Future of Everything. I'm Russ Altman. I'm speaking with Dr. Steve Quake, and now we're talking about infectious disease detection.As a doctor, I know that we have patients come into the emergency room or into the clinic with what we call FUO, fever of unknown origin. They look sick, they have a fever, it's not normal to have a fever, and they look infected, but we can't find an infection. And so I'm guessing that one of the key applications of this technology would be, well, what DNA are we seeing in the bloodstream, ‘cause that might point us to the infectious agent. Is that how the infectious disease community —Stephen Quake: Absolutely, yep.Russ Altman: — is taking this up?Stephen Quake: Absolutely. That's a major application. There's a bunch of others that are really interesting. And to come back to the earlier point you raised about blood infections being a different thing, the point is that the blood is like the septic system of the body, and it's exploring all the tissues and organs. And when cells are dying and they're releasing their DNA, it picks it up and carries it. So even if the infection is not in the blood, you see the remnants of the infection in the blood from that cell-free DNA.Russ Altman: Yes, and so the final area that I wanted to get into, of course, is cancer. And, in fact, you mentioned cancer in your initial comments. Where are we with the detection of cancer from cell-free DNA?Stephen Quake: Yeah, that's been an area of intense interest for decades. That's the one that was primarily driving the field before the prenatal work and because tumors have different genomes than the normal body does. And so people would monitor those differences in the blood and try to understand how the disease was progressing and to try to do detection. And that's been a little later into the clinic than the prenatal stuff, but it's happening now. And it's an area of intense interest. There's a bunch of companies out there that have launched tests or about to launch tests, and it's gonna be very important for helping monitor course of treatment, and that's the first clinical application that's out there.Russ Altman: That's what I was gonna ask. Is this about detection or about monitoring? And it sounds like the monitoring.Stephen Quake: That's the first one. It's the easiest one ‘cause you're in such a high risk group and it makes it an easier technical task.Russ Altman: And you know the cancer, so you've been able to characterize what you're expecting to find if the cancer comes back.Stephen Quake: Correct. But the big thing to go after is early detection, and that would help a lot of people and save a lot of lives. And that's something that is gonna be coming. Maybe it's five years, maybe it's sooner, but there'll be some very valuable tools for that coming down the pike; I'm pretty confident about that.Russ Altman: Yeah, so let's just think about that for a moment because one of the things that I know is an issue is when these new technologies arise, they often move up the time of detection. You could get the cancer detection earlier, you get the rejection. In general, that's a good thing. But in cancer, it's a little tricky because there is some, if I understand the literature, there's some indication that some cancers arise, and it's the body's own immune system suppresses the cancer effectively before it can grow. Have people worked out what actions you should actually take if you see a very early indication of cancer? Is it definite that we're gonna hit the patient very hard with chemotherapy and radiation and whatnot, or might we still have to figure out what to do about that?Stephen Quake: Yeah, that's a really good question and important issue, and I think we're so early on that that's being worked out in the clinical community. But the initial thought is not that you would go right to treatment with chemotherapy but that you would reflex to other testing methods that are more expensive and more sophisticated and are not the sort of thing you use to screen people broadly but if you got a hint that something's wrong, you'd use them, things like imaging techniques and such forth.Russ Altman: Makes sense. This is The Future of Everything. I'm Russ Altman. More with Dr. Stephen Quake about DNA, the future of health and biology and bioengineering, next on Sirius XM Insight 121.Welcome back to The Future of Everything. I'm Russ Altman. I'm speaking with Dr. Stephen Quake about the fabulous uses of DNA that's floating around in our cells. Now Steve, we just went through a bunch of really killer apps, but I know that there's yet another one, which is looking at pre-term birth. And that's a funny one to me because it's not immediately obvious how detecting DNA would have anything to do with a pre-term birth. So tell us that story.Stephen Quake: Yeah, so pre-term birth ends up being number one cause of neonatal mortality and complications later in life. It's a huge problem, and there's been, despite decades of effort, no real progress on creating a meaningful diagnostic that tells people who's at risk. And there's been a lot of effort put into –Russ Altman: So the goal would be very early, say this looks like a pregnancy that might have some pre-term problems.Stephen Quake: Exactly. And more generally, when is the baby gonna be due? Even if it's not early, can you predict the due date? And there's been a lot of effort put into understanding the genetics of that, the DNA base part, that has not really had a lot of predictive power or success. And so we turned to looking at RNA, which is carries the message from the genome and tells you about not the inheritance but the state of the cell and body at any given point. And it turns out same guys who discovered cell-free DNA in 1948 also discovered cell-free RNA.Russ Altman: They have a good year.Stephen Quake: They did.Russ Altman: Same year?Stephen Quake: Same paper!Russ Altman: Same paper!Stephen Quake: And so we began looking at cell-free RNA as a way to measure what's going on in the mom's body and with the baby and the placenta at any given point in time and how are things changing and can that signal to us when the baby's gonna be born and if the baby's gonna be born early. And we were able, after a long effort, it took seven or eight years of work by a very large group of people, a number of collaborators here at Stanford, including David Stevenson and Gary Shaw and Yair Blumenfeld, bunch of the MFM docs.Russ Altman: MFM is maternal fetal medicine.Stephen Quake: Fetal medicine, thank you.Russ Altman: It's okay, it's my job.Stephen Quake: But we managed to, we managed to figure it out. And we published a paper last year showing that there's a handful of transcripts which indicate when the mom is gonna give pre-term birth, about two months in advance of that.Russ Altman: Wow, so these are like canaries in the coal mine.Stephen Quake: Exactly. And we found another set of transcripts which were predict gestational age, so you can tell how old the baby is and predict when it's gonna be born. And that turns out to be a really interesting problem as well.Russ Altman: I was gonna say, I thought that good old-fashioned subtract nine months from the date of birth gets you a pretty, and in fact, I must say, I'm born on November 5th, and that's important because if you go back nine months, that gets you to February 14th, Valentine's Day. So that's a side story.Stephen Quake: Okay, I got a couple of stories there for you.Russ Altman: But tell me about this.Stephen Quake: All let me give you a couple of stories.Russ Altman: Tell me about this.Stephen Quake: So when we were having our first kid, the one with the amnio, right, I asked the doctor what's the due date, tells us the due date. I said what's the error of your measurement, your estimate? And he got very offended ‘cause he thought I was questioning his ability as a doctor.Russ Altman: Of course, of course.Stephen Quake: We had a very tense discussion. Finally, I manage to communicate I was asking about the uncertainty in the estimate ‘cause I wanted to know when to adjust the travel schedule to make sure I didn't miss it. And he couldn't tell me the uncertainty, but he told me a number that I could use to derive the uncertainty, and so I did that. Worked out to two sigma three sigma. I had three sigma baby. So the baby was premature by three and a half weeks, and it was fortunate –Russ Altman: Oh, it was at the border of the plus minus.Stephen Quake: Yeah, I was fortunately in town, and fortunately, she turned out fine. But this got me aware of the importance of not only pre-term birth but also understanding, trying to understand when the baby's gonna be born and prediction of due date.Russ Altman: Okay, so you sold me. This is actually an impactful question.Stephen Quake: Yes, exactly.Russ Altman: So what can you guys do?Stephen Quake: Well, it's early still. Our first paper was a small number of women, few dozen women, and yet it seems very promising, and we've now been able to reproduce it in a different cohort that we can predict pre-term birth and gestational age and, from gestational age, hopefully predict when the normal baby's gonna be born. But it's all now going into much larger clinical trials to validate it. It's very much the beginning of the story, but it's an exciting one.Russ Altman: So, great. This is a new molecule for our discussion, this RNA molecule, also from the baby or the placenta or both and a combination of maternal and fetal factors gives you the data you need and a big data mining approach, not to overuse that, to actually draw inferences that might be very impactful both for the actual due date but, more importantly, for uh oh, we have a woman who might be having a pre-term birth, let's do what we can, and again, the ability of doctors to intervene is probably much better if they have two-month warning.Stephen Quake: Correct, correct.Russ Altman: Well, so this has been an amazing ride, and I wanna turn our attention a little bit now to a separate thing but very excited that you're involved with. A few years ago, I think three years ago, the Chan and Zuckerberg Foundation announced the creation of a big biomedical research institute with you and a colleague from UCSF, Joe DeRisi, as co-presidents, and it had a very bold mission. The mission was to, I believe, cure or manage all disease by the end of the century, something like that; you can correct me if I'm wrong.Stephen Quake: Cure, treat, or prevent all human disease by the end of the century.Russ Altman: Bingo. So you agreed to that charge. You've now been doing it for three years. Can you tell us a little bit about how it was set up and why it was set up, and is it really even possible to imagine that level of progress in the next century?Stephen Quake: Yeah. So since we've been talking about becoming parents, and Mark and Priscilla began to turn their attention to philanthropy in a pretty large way when they became parents. And they wrote an open letter before their first daughter was born that launched the Chan Zuckerberg Initiative and ultimately the Biohub with this idea of trying to create a better world.Russ Altman: It's called the Chan Zuckerberg –Stephen Quake: Chan Zuckerberg Biohub.Russ Altman: Biohub, mm-hmm.Stephen Quake: And so in their children's lifetime, so broadly in this hundred-year span, they wanted to see if they could fund scientific research that would help make the world a healthier place for their kids and everyone else, which is a lovely mission. And it sounds crazy, right?Russ Altman: Sounds crazy.Stephen Quake: It sounds absolutely absurd, and for awhile, I couldn't say it even to them with a straight face.Russ Altman: And yet a few moments ago, you said it forcefully and convincingly, so wait to go.Stephen Quake: In, well –Russ Altman: What turned you?Stephen Quake: Well, you think about it for awhile, and it helps to think backwards in time and think about how far medicine has advanced in the last 100 years. And in this country, mortality has been cut in half. And the things that kill us now are very different than the things that killed us 100 years ago. Primarily, it was infectious disease then. Now it's things like heart disease and such forth. And so we've eliminated entire classes of diseases, effectively, and cut mortality in half. So you can project forward another 100 years and say if we don't do anything, we should get another factor of two. And with some really serious effort, maybe we can do better than that. It's just very hard for people to think on century-long timescales. We're thinking when's our next grand proposal or something like that or when's our next student gonna graduate, and it's not often that we have the opportunity to think on that sort of timescale.Russ Altman: This is The Future of Everything. I'm Russ Altman. I'm speaking with Steve Quake, now about curing, managing, treating, and what was the other verb?Stephen Quake: Prevent.Russ Altman: Preventing all disease. Do you take a portfolio approach? It sounds like you were talking about the causes of death 100 years ago, so you have to look at the causes of death now. And I guess you have to pick the low-hanging fruit to say how do we make progress. So how have you decided to deploy the assets of the Biohub for the next five to 10 years?Stephen Quake: Yeah, well, a two-fold approach. One approach is to pick a couple of areas that capture a large part of the global burden of disease, and we've chosen two that we focus on in our internal research. One is cell biology, and a lot of diseases are a consequence of disorders of cell biology, cancer, heart disease, pulmonary disease, a number of neurological diseases. And so better understanding how cells work will lead to new therapies and treatments.Russ Altman: Could be a platform of discoveries that will have multiple applications.Stephen Quake: Right, exactly, and that covers a large part of the global burden, as you work out the numbers of that. The other big part is infectious disease.Russ Altman: So it's still a problem.Stephen Quake: Still a problem worldwide, absolutely. There's a bunch of open areas, malaria, HIV. There's a bunch of other ones, TB, number of viral infections. So that's our other big internal effort. And at the Biohub, our researchers have been hired to focus on those two areas. Now the other, all the rest, what we've done is we've partnered with the Bay Area University, to Stanford, UCSF, and Berkeley, and we fund research of nearly 100 faculty at those universities across everything else. We have an open competition. We've committed roughly $100 million to those faculty over the next five years, and we'll do it again for the second five years. And we're encouraging them to work on the riskiest, most exciting ideas, whether they're basic science, technological, or more disease focused, to cover the span of where we think a lot of the great innovations are gonna come over the next decades.Russ Altman: So that does sound compelling. So basically, a two-fold strategy with some top-down projects that you know are gonna be impactful, and then you spread your bets by giving money to a bunch of smart people and say just do what you think is right. And the hope is that that will lead to the next set of challenges that you guys can perhaps adopt as top-down challenges.Stephen Quake: That's right.Russ Altman: So how is it going?Stephen Quake: Well, as you mentioned, we just celebrated our third birthday three weeks ago. Joe and I have been working really hard, but it feels great. I feel like we're at full steam, and great science is happening, and the people we're funding are doing great work, and the future is bright.Russ Altman: And I guess are the donors satisfied? Are the people who put up the funds, are they starting to see their fruits of their vision?Stephen Quake: Well, you'll have to ask them that. It's not my place to say. But they haven't fired us yet, and so we take that as a good sign.Russ Altman: Thank you for listening to The Future of Everything. I'm Russ Altman. If you missed any of this episode, listen anytime on demand with the Sirius XM app.

Rayna Rapp is Professor of anthropology and an affiliate at the center for disability studies at NYU. Laura welcomes Rayna Rapp, feminist, medical anthropologist and all-around sage, who has worked for decades in the study of the social impact of prenatal genetic testing. Her 1999 book, "Testing Women; Testing the Fetus; the Social Impact of Amniocentesis in America," is a classic that has influenced generations of genetic counselors.

Usted tiene la opción de someterse a exámenes para detectar una serie de trastornos genéticos en el embarazo. ¿Cómo se ejecutan estos tests y qué es lo que puede descubrirse? La Dra. Julia Cormano explica la diferencia entre exámenes de detección y pruebas de diagnóstico, qué se puede saber a partir de un examen de sangre, así como también qué esperar de la toma de muestras de vellosidades coriónicas y la amniocentesis. Series: "La Maternidad" [Health and Medicine] [Spanish Language] [Show ID: 35087]

Usted tiene la opción de someterse a exámenes para detectar una serie de trastornos genéticos en el embarazo. ¿Cómo se ejecutan estos tests y qué es lo que puede descubrirse? La Dra. Julia Cormano explica la diferencia entre exámenes de detección y pruebas de diagnóstico, qué se puede saber a partir de un examen de sangre, así como también qué esperar de la toma de muestras de vellosidades coriónicas y la amniocentesis. Series: "La Maternidad" [Health and Medicine] [Spanish Language] [Show ID: 35087]

Usted tiene la opción de someterse a exámenes para detectar una serie de trastornos genéticos en el embarazo. ¿Cómo se ejecutan estos tests y qué es lo que puede descubrirse? La Dra. Julia Cormano explica la diferencia entre exámenes de detección y pruebas de diagnóstico, qué se puede saber a partir de un examen de sangre, así como también qué esperar de la toma de muestras de vellosidades coriónicas y la amniocentesis. Series: "La Maternidad" [Health and Medicine] [Spanish Language] [Show ID: 35087]

Usted tiene la opción de someterse a exámenes para detectar una serie de trastornos genéticos en el embarazo. ¿Cómo se ejecutan estos tests y qué es lo que puede descubrirse? La Dra. Julia Cormano explica la diferencia entre exámenes de detección y pruebas de diagnóstico, qué se puede saber a partir de un examen de sangre, así como también qué esperar de la toma de muestras de vellosidades coriónicas y la amniocentesis. Series: "La Maternidad" [Health and Medicine] [Spanish Language] [Show ID: 35087]

Usted tiene la opción de someterse a exámenes para detectar una serie de trastornos genéticos en el embarazo. ¿Cómo se ejecutan estos tests y qué es lo que puede descubrirse? La Dra. Julia Cormano explica la diferencia entre exámenes de detección y pruebas de diagnóstico, qué se puede saber a partir de un examen de sangre, así como también qué esperar de la toma de muestras de vellosidades coriónicas y la amniocentesis. Series: "La Maternidad" [Spanish Language] [Show ID: 35087]

Usted tiene la opción de someterse a exámenes para detectar una serie de trastornos genéticos en el embarazo. ¿Cómo se ejecutan estos tests y qué es lo que puede descubrirse? La Dra. Julia Cormano explica la diferencia entre exámenes de detección y pruebas de diagnóstico, qué se puede saber a partir de un examen de sangre, así como también qué esperar de la toma de muestras de vellosidades coriónicas y la amniocentesis. Series: "La Maternidad" [Spanish Language] [Show ID: 35087]

You have the option to screen for a number of genetic disorders in pregnancy. How are these tests performed and what can be discovered? Dr. Julia Cormano explains the difference between screening and diagnostic testing, what can be learned from a blood test, as well what to expect from chorionic villus sampling and amniocentesis. Series: "Motherhood Channel" [Health and Medicine] [Show ID: 33874]

You have the option to screen for a number of genetic disorders in pregnancy. How are these tests performed and what can be discovered? Dr. Julia Cormano explains the difference between screening and diagnostic testing, what can be learned from a blood test, as well what to expect from chorionic villus sampling and amniocentesis. Series: "Motherhood Channel" [Health and Medicine] [Show ID: 33874]

You have the option to screen for a number of genetic disorders in pregnancy. How are these tests performed and what can be discovered? Dr. Julia Cormano explains the difference between screening and diagnostic testing, what can be learned from a blood test, as well what to expect from chorionic villus sampling and amniocentesis. Series: "Motherhood Channel" [Health and Medicine] [Show ID: 33874]

You have the option to screen for a number of genetic disorders in pregnancy. How are these tests performed and what can be discovered? Dr. Julia Cormano explains the difference between screening and diagnostic testing, what can be learned from a blood test, as well what to expect from chorionic villus sampling and amniocentesis. Series: "Motherhood Channel" [Health and Medicine] [Show ID: 33874]

You have the option to screen for a number of genetic disorders in pregnancy. How are these tests performed and what can be discovered? Dr. Julia Cormano explains the difference between screening and diagnostic testing, what can be learned from a blood test, as well what to expect from chorionic villus sampling and amniocentesis. Series: "Motherhood Channel" [Health and Medicine] [Show ID: 33874]

You have the option to screen for a number of genetic disorders in pregnancy. How are these tests performed and what can be discovered? Dr. Julia Cormano explains the difference between screening and diagnostic testing, what can be learned from a blood test, as well what to expect from chorionic villus sampling and amniocentesis. Series: "Motherhood Channel" [Health and Medicine] [Show ID: 33874]

You have the option to screen for a number of genetic disorders in pregnancy. How are these tests performed and what can be discovered? Dr. Julia Cormano explains the difference between screening and diagnostic testing, what can be learned from a blood test, as well what to expect from chorionic villus sampling and amniocentesis. Series: "Motherhood Channel" [Health and Medicine] [Show ID: 33874]

You have the option to screen for a number of genetic disorders in pregnancy. How are these tests performed and what can be discovered? Dr. Julia Cormano explains the difference between screening and diagnostic testing, what can be learned from a blood test, as well what to expect from chorionic villus sampling and amniocentesis. Series: "Motherhood Channel" [Health and Medicine] [Show ID: 33874]

Se informa sobre la marcha que habrá el 7 de octubre del 2012 en España a favor de la vida, pidiendo que se llegue a la Ley de “Aborto Cero”. Habla también sobre la prueba de amniocentesis, la prueba a la muchas mujeres se someten en la vigésima semana del embarazo, para saber si existe alguna enfermedad en el feto que pueda ser curada mientras está en el útero, pero que también se está usando como medio para decidir si se desea abortar.

A great 5-minute second part overview explanation on what family Obstetric History you need to be aware of. Plus an overview of the foods you can/can't and should/shouldn't eat during pregnancy.Note: The 25-min full-version of NEWLY-PREGNANT NEED-TO-KNOW Part-II Audio also includes the Topics: UTIs (Urinary Tract Infections) signs, symptoms & management; CVS (chorionic villus sampling), and the Amniocentesis diagnostic fetal anomaly testing.CLICK HERE to learn more about joining Kathy's MotherWise MasterClass podcasts by purchasing a subscription to her ESSENTIAL BASICS support package. [Membership also gives access to Kathy's webinar library; huge online Q&A Library; and her weekly live classes.]Connect with Kathy Fray:kathyfray.comKathy Fray’s BooksLinkedInFacebookTwitterInstagramiTunes

Join me as we finish our discussion on anueplody screening. In this episode we discuss the risks of amniocentisis and chorionic villus sampling, cell-free DNA, and different screening strategies. Comparing Different Strategies The assessment of combined first trimester screening in women of advanced maternal age in an Asian cohort   Amnio/CVS A report of the safety and accuracy of midtrimester amniocentesis at the Medical College of Georgia: Eight and one half years' experience PRENATAL DIAGNOSIS IN MULTIPLE GESTATION: 20 YEARS’ EXPERIENCE WITH AMNIOCENTESIS Maternal complications following amniocentesis and chorionic villus sampling for prenatal karyotyping Chorionic Villus Sampling Fetal Complications of Amniocentesis Intrauterine diagnosis and management of genetic defects Role of Amniocentesis in the Intrauterine Detection of Genetic Disorders Needle puncture of fetus: A complication of second- trimester amniocentesis Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study Procedure-Related Complications of Amniocentesis and Chorionic Villous Sampling Analysis of 2136 genetic amniocenteses: Experience of a single physician Midtrimester amniocentesis: An analysis of 923 cases with neonatal follow-up Cell-Free DNA Presence of fetal DNA in maternal plasma and serum Increased Fetal DNA Concentrations in the Plasma of Pregnant Women Carrying Fetuses with Trisomy 21 Single-Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in a High-Risk and Low-Risk Cohort Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma Isolating fetal cells from maternal blood. Advances in prenatal diagnosis through molecular technology. Fetal DNA in maternal plasma is elevated in pregnancies with aneuploid fetuses Noninvasive Prenatal Detection of Aneuploidy Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection

Amniocentesis is a common procedure usually performed to collect cells from the fetus to allow testing for abnormal chromosomes.  Cells from the amniotic fluid are collected through centrifugation, cultured, and after about two weeks, analyzed by fluorescent in situ hybridization, or FISH, or with a microarray to detect abnormal chromosome copy number changes or large chromosomal structural rearrangements.  These tests have become the gold standard for detecting Down Syndrome and several other serious birth defects because they have a low false positive rate.  However, they are unable to detect the majority of birth defects.Amniocentesis is a common procedure usually performed to collect cells from the fetus to allow testing for abnormal chromosomes.  Cells from the amniotic fluid are collected through centrifugation, cultured, and after about two weeks, analyzed by fluorescent in situ hybridization, or FISH, or with a microarray to detect abnormal chromosome copy number changes or large chromosomal structural rearrangements.  These tests have become the gold standard for detecting Down Syndrome and several other serious birth defects because they have a low false positive rate.  However, they are unable to detect the majority of birth defects. In the April 2018 issue of Clinical Chemistry, a paper demonstrated the feasibility of generating an accurate whole genome sequence of a fetus from either the cellular or cell-free DNA of an amniotic sample. 

Last week, Kate challenged Karyne to help take care of the 8-month-old who was going to be at the a cappella group retreat. Karyne passed with flying colors and no babies were harmed during the challenge. Also, they got Beyonce tickets.

This episode of Infectious Questions addresses a question about amniocentesis for pregnant women who've recently travelled to Zika endemic areas. Our guest expert is Dr. Vanessa Poliquin, an obstetrician, gynecologist and reproductive infectious diseases specialist at the University of Manitoba. Our theme music is 'Weathervane' by Blue Dot Sessions [www.sessions.blue]

“Telos” refers to purposes or ends. In Teleological Ethics, the "ends justify the means". Things are judged good or bad based on their purpose. Technology regards making tools and changing ways of living. Technology is about doing things and science is about learning things. Consider the example of diabetes, embryonic stem cell research, and Amniocentesis. Consider that Amniocentesis, in and of itself, is not immoral or moral. Explore the example of Vitamin A deficiency. On the baseline of what is opposed to on the teleological argument of the embryonic stem cell research is the destruction of human life. Sanctity of life is higher than the teleological. Science demonstrates what we could do technologically and shows us what could happen but science, in and of itself, cannot create an obligation ethically.

Every pregnancy is different, but it can be VERY different for women carrying multiples. Weʼll explore some of these differences including the changes that will be happening to your body and how to manage those changes. What is the difference between Monozygotic and Dizygotic? What are some signals of preterm labor? What are the risks associated with having twins, and what's the importance of an Amniocentesis? Dr. Sean Daneshmand, Perinatologist at Sharp Mary Birch is this week's expert.

The amniotic band syndrome represents a prime example of exogenous disruption of an otherwise normal feta I development. It may be a sequel of invasive diagnostic procedures such as amniocentesis or fetal blood sampling. A 38-year-old gravida II, para II delivered a morphologically normal male stillborn at term. The pregnancy history had been unremarkable but for an early 2nd-trimester amniocentesis. Cause of the intra-uterine fetal demise was noted to be an amniotic band constricting the umbilical cord, An amniotic band is a rare but potentially fatal condition which may be induced by, e.g., invasive prenatal procedures. Such bands are not usually diagnosed prenatally; however, selected patients with augmented risk may profit from intensive ultrasound evaluation including Doppler studies. Copyright (C) 2000 S. Karger AG, Basel.