Podcasts about noninvasive prenatal testing

Justin Coleman speaks with Alice Poulton, genetic counsellor, about noninvasive prenatal testing (NIPT) to screen for aneuploidies such as trisomy 21 (Down syndrome). Alice explains how NIPT differs from serum screening and ultrasound options, and when each option may be used. The conversation also covers advice on interpreting the NIPT results and when invasive testing may be offered. Read the full paper in Australian Prescriber.

Dr. Shameka Poetry Thomas is a medical sociologist with special interest in reproductive justice and genetics technology as well as the intersection of maternal healthcare with sickle cell disease. After receiving her Ph.D. from the University of Miami, she completed her two-year postdoctoral fellowship at the National Institutes of Health (NIH)/National Human Genomics Research Institutes (NHGRI).In this episode, Dr. Thomas centers the experiences of pregnant Black women with sickle cell disease, who, despite advances in medicine, genetics and reproductive technology, have been neglected by research communities due to intersecting marginalized identities despite high mortality during pregnancy and childbirth. Dr. Thomas walks us through what non-invasive prenatal testing (NIPT) is and how it relates to sickle cell disease specifically. Her work comes to life by illustrating the converging effects of colonialism, racism, bias and stigmatization through moving real-world stories. Her research sheds light on the lived experiences of patients who are left to integrate complex information from multiple specialists to interpret meanings for themselves, their families, their finances and their communities in the setting of collective and individual trauma. She describes the importance of using qualitative research methods to explore a range of experiences within groups rather than treating groups as a monolith. She also acknowledges the heaviness of this type of qualitative work and the importance of dissemination of findings to spark action.Dr. Thomas connected the long history of research abuses in the US to current-day research practices that continue to disrespect Black women. For example, recent sickle cell disease NIPT research was conducted without incorporating the unique lived experiences of the affected women to understand whether and how to incorporate these technologies into practice. She emphasized the urgent need for the development and implementation of more comprehensive ethical guidelines in the field of reproductive health. These guidelines should specifically address the ethical dimensions of research on sickle cell disease and the burgeoning field of genetic technology, ensuring that the rights, dignity, and well-being of those affected particularly within marginalized communities. Finally, Dr. Thomas called for more robust advocacy efforts aimed at amplifying the voices of Black women and other marginalized groups in the creation of healthcare policies and research priorities. Such advocacy must not only challenge existing inequities but also ensure that affected communities have the power and agency to influence decisions that impact their lives, fostering a healthcare system that is equitable, inclusive, and just.Read Dr. Thomas's work here:Thomas SP, Fletcher FE, Willard R, Ranson TM, Bonham VL. Patient Perceptions on the Advancement of Noninvasive Prenatal Testing for Sickle Cell Disease among Black Women in the United States. AJOB Empir Bioeth. 2024 Apr-Jun;15(2):154-163. doi: 10.1080/23294515.2024.2302996. Epub 2024 Feb 13. PMID: 38349128.Thomas SP. Trust Also Means Centering Black Women's Reproductive Health Narratives. Hastings Cent Rep. 2022 Mar;52 Suppl 1:S18-S21. doi: 10.1002/hast.1362. PMID: 35470876.Fletcher F, Thomas SP, Lapite FC, Ray K. Bioethics Must Exemplify a Clear Path toward Justice: A Call to Action. Am J Bioeth. 2022 Jan;22(1):14-16. doi: 10.1080/15265161.2021.2001113. PMID: 34962203; PMCID: PMC9302876.

Last episode we learned about non-invasive prenatal testing (NIPT) for recessive conditions through BillionToOne's UNITY Screen. Jen Hoskovec, Senior Director of Medical Affairs at BillionToOne, is back for this episode where we are exploring NIPT for fetal antigen. Jen is BillionToOne's Senior Director of Medical Affairs.Jennifer Hoskovec, MS, CGC, joined BillionToOne as the Senior Director of Medical Affairs in July 2020. As a certified genetic counselor with over 17 years of clinical experience, Jen is committed to ensuring patients and providers are supported and educated about the options and utility of prenatal testing. Jen joined BillionToOne after 17 years as a prenatal genetic counselor at UTHealth where she led a team of genetic counselors providing patient care in MFM clinics across the city of Houston. Jen has extensive volunteer and leadership experience within national societies such as American College of Obstetrics and Gynecology and National Society of Genetic Counselors. She served as president of NSGC in 2014. Jen earned her MS in genetic counseling from the University of Texas Health Science Center in Houston and her Bachelor of Science in Biology with a minor in Chemistry from Truman State University.On This Episode We Discuss:AntigensWhich antigens are screened for in UNITYAlloimmunization and who is at riskWhy learning fetal antigens is useful during a pregnancyPrevalence of and risks associated with HDFNHemolytic Disease of the Fetus and Newborn Sensitivity and specificity of UNITY Screen's NIPT for fetal antigenThe minimum gestational week blood for this test can be collectedHow providers can order both the UNITY for recessive conditions and fetal antigenThe average turnaround time for these testsLearn more about UNITY Screen's novel fetal antigen NIPT and the genetic conditions and fetal antigens on UNITY Screen NIPT at these links.To stay up to date with the latest developments at BillionToOne, follow them on Twitter, facebook and LinkedIn. You can also connect with our guest, Jen Hoskovec on Twitter. Stay tuned for the next new episode of DNA Today on March 3rd, 2023! New episodes are released every Friday. In the meantime, you can binge over 224 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. If you've been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I'm drinking is from Four Sigmatic. I'm really picky about my coffee, it's got to be bold, not watery. And I've been really happy with Four Sigmatic. Here's the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don't taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that's FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode with PerkinElmer Genomics on here, DNA Today! You can visit perkinelmergenomics.com for more information, the link is also available in the show notes and on our website DNAtoday.com. (Sponsored)Which drug do you prescribe for your HER2+ cancer patients? For the first time in history TruGene Diagnostics (formerly Blueprint Diagnostics) informs you which of the 3 leading cancer drugs your patient is sensitive to and resistant to. TruGene Diagnostics knows the functional effect of EVERY mutation in the TK region of HER2 Gene. And knows the functional effect with and without the 3 most common drugs present. Thus allowing you to match the best drug to the patient. Unlock the best drug for your patients with HER2+ cancer using TruGene Diagnostics. Check it out at TruGeneDiagnostics.com. Stay tuned for our interview with them! (Sponsored)

In this episode we are learning about UNITY Screen non-invasive prenatal testing (NIPT) for recessive conditions. Joining our host Kira Dineen are two experts from BillionToOne, the CEO Oguzhan Atay and the Senior Director of Medical Affairs, Jen Hoskovec. Stay tuned for our part two about their new fetal antigen NIPT! Oguzhan Atay, PhD, BillionToOne co-founder, has led the company since its inception and raised more than $200M in funding including from venture capital funds and investors who previously invested in tech companies such as SpaceX, Box, Spotify, Palantir, Braintree, and biotech companies such as Counsyl, WebMD, and Omada Health! Oguzhan received his PhD from Stanford University, where his work was published on the Cover of Cell Systems. He graduated summa cum laude and Phi Beta Kappa from Princeton University with a bachelor's in molecular biology and minors in physics, computer science, and applied mathematics.Jennifer Hoskovec, MS, CGC, joined BillionToOne as the Senior Director of Medical Affairs in July 2020. As a certified genetic counselor with over 17 years of clinical experience, Jen is committed to ensuring patients and providers are supported and educated about the options and utility of prenatal testing. Jen joined BillionToOne after 17 years as a prenatal genetic counselor at UTHealth where she led a team of genetic counselors providing patient care in MFM clinics across the city of Houston. Jen has extensive volunteer and leadership experience within national societies such as American College of Obstetrics and Gynecology and National Society of Genetic Counselors. She served as president of NSGC in 2014. Jen earned her MS in genetic counseling from the University of Texas Health Science Center in Houston and her Bachelor of Science in Biology with a minor in Chemistry from Truman State University.On this episode we discuss:Noninvasive prenatal testing (NIPT)What is UNITY Screen and why the name UNITY?Recessive conditions included in UNITY ScreenInformation included in a UNITY NIPT reportTest specificity and sensitivity differences between ethnicitiesHow typical carrier screening flows work differently with UNITYWhy it is helpful to have information regarding the chance a pregnancy is affected by a recessive conditionBillionToOne's plans to include more recessive conditions in UNITY ScreenTo stay up to date with the latest developments at BillionToOne, follow them on Twitter, facebook and LinkedIn. You can also connect with our guest, Jen Hoskovec on Twitter. Stay tuned for the next new episode of DNA Today on February 24th, 2023 where we continue this NIPT discussion with Jen Hoskovec focusing on screening for antigens. New episodes are released every Friday. In the meantime, you can binge over 220 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. If you've been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I'm drinking is from Four Sigmatic. I'm really picky about my coffee, it's got to be bold, not watery. And I've been really happy with Four Sigmatic. Here's the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don't taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that's FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)Which drug do you prescribe for your HER2+ cancer patients? For the first time in history TruGene Diagnostics (formerly Blueprint Diagnostics) informs you which of the 3 leading cancer drugs your patient is sensitive to and resistant to. TruGene Diagnostics knows the functional effect of EVERY mutation in the TK region of HER2 Gene. And knows the functional effect with and without the 3 most common drugs present. Thus allowing you to match the best drug to the patient. Unlock the best drug for your patients with HER2+ cancer using TruGene Diagnostics. Check it out at TruGeneDiagnostics.com. Stay tuned for our interview with them! (Sponsored)

In this episode, our hosts review how the screening for Down syndrome and other chromosome abnormalities has changed over the last few decades.  They go in depth about the latest technology such as SNP*-based technology tests which deliver the most accurate non-invasive prenatal testing available.  This is often referred to as (Non-invasive perinatal testing) NIPT or (Non-invasive perinatal screening) NIPS.     As always, we'd love to hear from you! Please get in touch with us on our website at TrueBirthPodcast.com or reach out on any of our social channels.  Integrative OBSTETRICS Social Facebook https://www.facebook.com/IntegrativeOB Instagram @integrativeobgyn Maternal Resources Social Facebook: https://www.facebook.com/maternalresourceshackensack |nstagram: @maternalresources Subscribe to the podcast on Apple Podcasts, Spotify, Google Podcasts, & Stitcher and leave a review!

Chelsea Castonguay is a mother with a 3 year old son who has Klinefelter syndrome. Noah was diagnosed in utero after Chelsea felt like something was off around 13 weeks and requested Noninvasive Prenatal Testing. Chelsea talks about how she was devastated learning her son would have Klinefelter syndrome 47 XXY. After Noah was born she talks about how they were fearful about telling family. At a visit with a specialist, they were told to "never tell their son he had XXY". Confused about what they were told Chelsea talks about how this consultation lead to their decision to overcome fear and open up about Noahs diagnosis. Opening up created a network of support they never had. Chelsea said she doesn't want anyone to feel alone and wants to support others just like those who supported her.

In this episode, we discuss the latest guidance about screening for fetal abnormalities with cell-free DNA testing, the COVID 19 vaccine for breastfeeding and lactating women, and some true and not so true ways to determine fetal gender. 

Non-invasive prenatal testing based on cell-free DNA is now a widely used technique. However, quality control materials that have properties identical to clinical samples and that are applicable to a wide range of procedures are not available to support assay development, internal or external quality control, and proficiency testing. The June 2019 issue of Clinical Chemistry includes a study describing the development of such quality control materials that comprise simulated human plasma and mixtures of mother cell line derived cell-free DNA based on DNA fragmentation factor digestion.

Researchers have developed approaches for the noninvasive prenatal testing of single gene diseases.

Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies Diana W. Bianchi, MD; Darya Chudova, PhD; Amy J. Sehnert, MD; Sucheta Bhatt, MD; Kathryn Murray, MS; Tracy L. Prosen, MD; Judy E. Garber, MD; Louise Wilkins-Haug, MD, PhD; Neeta L. Vora, MD; Stephen Warsof, MD; James Goldberg, MD; Tina Ziainia, MD; Meredith Halks-Miller, MD JAMA. 2015;314(2):162-169. doi:10.1001/jama.2015.7120 Importance: Understanding the relationship between aneuploidy detection on noninvasive prenatal testing (NIPT) and occult maternal malignancies may explain results that are discordant with the fetal karyotype and improve maternal clinical care. Objective: To evaluate massively parallel sequencing data for patterns of copy-number variations that might prospectively identify occult maternal malignancies. Design, Setting, and Participants: Case series identified from 125 426 samples submitted between February 15, 2012, and September 30, 2014, from asymptomatic pregnant women who underwent plasma cell-free DNA sequencing for clinical prenatal aneuploidy screening. Analyses were conducted in a clinical laboratory that performs DNA sequencing. Among the clinical samples, abnormal results were detected in 3757 (3%); these were reported to the ordering physician with recommendations for further evaluation. Exposures: NIPT ...

Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies Diana W. Bianchi, MD; Darya Chudova, PhD; Amy J. Sehnert, MD; Sucheta Bhatt, MD; Kathryn Murray, MS; Tracy L. Prosen, MD; Judy E. Garber, MD; Louise Wilkins-Haug, MD, PhD; Neeta L. Vora, MD; Stephen Warsof, MD; James Goldberg, MD; Tina Ziainia, MD; Meredith Halks-Miller, MD JAMA. 2015;314(2):162-169. doi:10.1001/jama.2015.7120 Importance: Understanding the relationship between aneuploidy detection on noninvasive prenatal testing (NIPT) and occult maternal malignancies may explain results that are discordant with the fetal karyotype and improve maternal clinical care. Objective: To evaluate massively parallel sequencing data for patterns of copy-number variations that might prospectively identify occult maternal malignancies. Design, Setting, and Participants: Case series identified from 125 426 samples submitted between February 15, 2012, and September 30, 2014, from asymptomatic pregnant women who underwent plasma cell-free DNA sequencing for clinical prenatal aneuploidy screening. Analyses were conducted in a clinical laboratory that performs DNA sequencing. Among the clinical samples, abnormal results were detected in 3757 (3%); these were reported to the ordering physician with recommendations for further evaluation. Exposures: NIPT ...

Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies Diana W. Bianchi, MD; Darya Chudova, PhD; Amy J. Sehnert, MD; Sucheta Bhatt, MD; Kathryn Murray, MS; Tracy L. Prosen, MD; Judy E. Garber, MD; Louise Wilkins-Haug, MD, PhD; Neeta L. Vora, MD; Stephen Warsof, MD; James Goldberg, MD; Tina Ziainia, MD; Meredith Halks-Miller, MD JAMA. 2015;314(2):162-169. doi:10.1001/jama.2015.7120 Importance: Understanding the relationship between aneuploidy detection on noninvasive prenatal testing (NIPT) and occult maternal malignancies may explain results that are discordant with the fetal karyotype and improve maternal clinical care. Objective: To evaluate massively parallel sequencing data for patterns of copy-number variations that might prospectively identify occult maternal malignancies. Design, Setting, and Participants: Case series identified from 125 426 samples submitted between February 15, 2012, and September 30, 2014, from asymptomatic pregnant women who underwent plasma cell-free DNA sequencing for clinical prenatal aneuploidy screening. Analyses were conducted in a clinical laboratory that performs DNA sequencing. Among the clinical samples, abnormal results were detected in 3757 (3%); these were reported to the ordering physician with recommendations for further evaluation. Exposures: NIPT ...

Interview with Diana W. Bianchi, MD, author of Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies

Prenatal testing using blood specimens rather than more invasive sampling has been successfully used for common chromosome disorders and for clinically significant copy number variations . H owever , detecting single gene disorders which are caused by mutations remains an analytical challenge.

Thieme Verlagamrican perinatly0:00Sat, 27 Dec 2014 00:00:00 GMT

Thieme Verlagamrican perinatly0:00Sat, 27 Dec 2014 00:00:00 GMT

Dr. Michael Greene is the Chief of Obstetrics at Massachusetts General Hospital and a Professor of Obstetrics, Gynecology, and Reproductive Biology at Harvard Medical School. Stephen Morrissey, the interviewer, is the Managing Editor of the Journal. S. Morain, M.F. Greene, and M.M. Mello. A New Era in Noninvasive Prenatal Testing. N Engl J Med 2013;369:499-501.