Understanding a Positive or Abnormal NIPT Result | Genetic Counselor Explains

Kendra Schaa, a board-certified genetic counselor who specializes in prenatal care, explains the meaning of a positive or abnormal noninvasive prenatal test (NIPT). This episode will review the limitations of NIPT, what to ask your healthcare provider, and next steps to learn more about your baby’s health. To schedule a 1-on-1 virtual genetic counseling appointment with Kendra, visit app.profi.io/book/allaylife. Check out our digital workbook created for those who receive abnormal genetic test results - allay-life.com/product/finding-your-way-workbook/ Disclaimer: This video is for general informational purposes only and does not constitute the practice of medicine or other professional healthcare services. The use of this information and the materials linked to this video is at the user's own risk. The content in this video is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Users should not disregard or delay in obtaining medical advice for any medical condition they have, and they should seek the assistance of their healthcare professionals for any such conditions. Knowledge about genetics is constantly evolving. This information may become out of date. 00:00 - Intro 1:11 - What is NIPT? 2:06 - Common conditions NIPT screens for 2:50 - NIPT results are not always accurate 3:05 - Age of the egg affects chances of result being a true positive 3:33 - Positive Predictive Value (PPV) explained 4:20 - Abnormal ultrasound AND abnormal NIPT result? 4:40 - PPV versus other percentages 5:00 - Other testing available 5:20 - Using ultrasound for more information 5:56 - What is a diagnostic test? 6:19 - Chorionic Villus Sampling (CVS) and amniocentesis 6:55 - Risks of CVS and amniocentesis 7:18 - Reasons for false positive/abnormal NIPT result 9:05 - I am here for you 9:28 - Closing Thank you for watching. Check out the links below for more information: To find a genetic counselor near you in the United States or in Canada, visit findageneticcounselor.nsgc.org/ For support resources and to learn more about Allay Life, please visit www.allay-life.com. With love and light, see you next time. References: In regard to the vanishing twin/twin demise phenomenon, the following research was referenced: Chen M, Su F, Wang J, Zhou L, Liu Q, Chai X, Yuan Y, Cen M, Wu Y, Wang Y, Chen F, Zhang Y, Chen D, Gao Y. Temporal persistence of residual fetal cell-free DNA from a deceased cotwin after selective fetal reduction in dichorionic diamniotic twin pregnancies. Prenat Diagn. 2021 Nov;41(12):1602-1610. doi: 10.1002/pd.5898. E In regard to the fetal fraction in naturally conceived pregnancies versus pregnancies conceived by IVF, the following research was referenced: Lee TJ, Rolnik DL, Menezes MA, McLennan AC, da Silva Costa F. Cell-free fetal DNA testing in singleton IVF conceptions. Hum Reprod. 2018 Apr 1;33(4):572-578. Music courtesy of Pixabay. Keywords: NIPT, pregnancy, test results, genetic counselor, noninvasive prenatal testing, cell-free fetal DNA screening, Panorama, Prequel, MaterniT21 Produced by Gabby Estlund Website: gabbyestlund.com Contact: [email protected]

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