Abstract
Non-invasive prenatal testing (NIPT) for select fetal trisomies became clinically available\r in 2011. When it was introduced, there were no formal recommendations regarding how\r healthcare providers should incorporate NIPT into the prenatal genetic counseling setting.\r We sought to identify how genetic counselors have incorporated NIPT, how they obtain\r informed consent from their patients, and their opinions regarding the informed consent\r process for NIPT. We distributed an anonymous online survey to NSGC members\r through an e-blast to the NSGC listerv. We directed our recruitment toward prenatal\r genetic counselors in late October 2012, which was approximately one year after NIPT\r became clinically available. Two hundred and six prenatal genetic counselors responded\r to the survey, and 181 indicated they had incorporated NIPT into their practice with the\r majority offering this testing to patients whose pregnancies are high risk. Respondents\r indicated that genetic counselors, as well as other healthcare providers, obtain informed\r consent from patients, and most do so verbally. Most respondents indicated that there\r should be a separate informed consent form for NIPT and that a discussion about NIPT\r with a patient should highlight that it is a screening test, it has a detection rate superior to\r that of maternal serum screening, an explanation of the specific conditions that NIPT\r screens for, and recommendations for invasive testing following a positive NIPT result.\r Following data collection for our study, the American College of Obstetricians and\r Gynecologists (ACOG), the National Society of Genetic Counselors (NSGC), and the\r American College of Medical Genetics and Genomics (ACMG) released practice\r guidelines for offering NIPT. Our results demonstrate that most genetic counselors have\r been offering NIPT in a manner consistent with the guidelines that the major governing\r bodies in prenatal genetics have since published. Future research should investigate\r patient understanding following NIPT to determine the best method for obtaining\r informed consent.