title: The Integration of Noninvasive Prenatal Screening into the Existing Prenatal Paradigm: a Survey of Current Genetic Counseling Practice.
abstract: Since its introduction four years ago, noninvasive prenatal screening for fetal aneuploidy (NIPS) has been widely adopted as a screening tool for women at a high risk for fetal aneuploidy. As use expands into the general population, questions arise concerning the integration of NIPS into preexisting screening paradigms. This study aims to examine the use of NIPS in current practice among prenatal counselors, predominantly in the United States, in order to inform strategies for the optimal use of both new and existing screening techniques. We electronically surveyed 208 members of the National Society of Genetic Counselors to ascertain how NIPS is currently being used. Genetic counselors were also queried as to the advantages and disadvantages of offering NIPS to all patients regardless of a priori risk. Results indicate substantial variation in practice regarding which patients are offered NIPS and how counselors have incorporated this technology into existing screening routines. The majority of participants report offering NIPS in conjunction with another method of screening for fetal aneuploidy, indicating that NIPS is being used as an addition rather than as a replacement. These screening methods primarily include nuchal translucency (NT) (45.1 %, n = 78) and first trimester serum screening, with or without an NT (19.7 %, n = 34). Furthermore, the majority report that they would be concerned about losing the clinical value of an NT in a complete transition to NIPS (85.4 %, n = 164). Counselors are evenly split on the merits of expanding the use of NIPS to the general population (con: 55.3 %, n = 105; pro: 44.7 %, n = 85). The lack of consensus suggests that updated practice guidelines might benefit counselors. In addition, respondents emphasized the need to better educate patients and providers about the risks, benefits, and limitations of the test.
authors.affiliation: Department of Obstetrics & Gynecology and Women's Health, Albert Einstein College of Medicine and Montefiore Medical Center, 1695 Eastchester Road, Suite 301, Bronx, New York, NY, 10461, USA. esuskin@gm.slc.edu.
authors.forename: Emily
authors.initials: E
authors.lastname: Suskin
authors.affiliation: The Joan H. Marks Graduate Program in Human Genetics, Sarah Lawrence College, Bronxville, Bronxville, NY, USA.
authors.forename: Laura
authors.initials: L
authors.lastname: Hercher
authors.affiliation: Department of Obstetrics & Gynecology and Women's Health, Albert Einstein College of Medicine and Montefiore Medical Center, 1695 Eastchester Road, Suite 301, Bronx, New York, NY, 10461, USA.
authors.forename: Kathleen Erskine
authors.initials: KE
authors.lastname: Aaron
authors.affiliation: Department of Obstetrics & Gynecology and Women's Health, Albert Einstein College of Medicine and Montefiore Medical Center, 1695 Eastchester Road, Suite 301, Bronx, New York, NY, 10461, USA.|Jacobi Medical Center, New York City Health + Hospitals, New York, NY, USA.
authors.forename: Komal
authors.initials: K
authors.lastname: Bajaj
mesh_terms: D000782:Aneuploidy; D000072117:Counselors; D005260:Female; D005333:Fetus; D005817:Genetic Counseling; D005820:Genetic Testing / Q000706:statistics & numerical data*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011795:Surveys and Questionnaires
keywords: Aneuploidy; Cell-free DNA; Genetic counseling; Non-invasive prenatal testing; Noninvasive prenatal screening; Prenatal screening