NIPT: Current utilization and implications for the future of prenatal genetic counseling

Amanda Buchanan, Amy Sachs, Tomi Toler, Judith Tsipis

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


Background: Non-invasive prenatal testing (NIPT) for select fetal trisomies became clinically available in 2011. When it was introduced, there were no recommendations from the major governing bodies in prenatal genetics regarding its incorporation. Purpose: We sought to determine how genetic counselors have incorporated NIPT into clinical practice and how NIPT has changed the informed consent process. Methods: We distributed an anonymous, online survey to National Society of Genetic Counselors (NSGC) members in October 2012. Results: There were 181 respondents who indicated they incorporated NIPT into their practice with the majority (94.1%) offering it to patients with high risk pregnancies. Of the respondents, 45.1% indicated that there should be a separate informed consent form for NIPT. Respondents indicated that a discussion about NIPT with a patient should highlight that it is a screening test, the detection rate is superior to that of maternal serum screening, it screens for specific conditions, and a positive NIPT result should be confirmed with a diagnostic test. Conclusion: Following data collection, the American Congress of Obstetricians and Gynecologists, the American College of Medical Genetics, and NSGC released practice guidelines surrounding NIPT. Our results demonstrate that most genetic counselors have been offering NIPT consistent with these guidelines.

Original languageEnglish
Pages (from-to)850-857
Number of pages8
JournalPrenatal Diagnosis
Issue number9
StatePublished - Sep 2014


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