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Updated: Jun 30, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Cross-Sectional Survey of Obstetrical Providers' Knowledge, Attitudes, and Use of Noninvasive Prenatal Testing for
Juliana Simon1, James W Van Hook1, Nabila Azeem2
1Department of Obstetrics and GynecologyThe University of Toledo College of Medicine and Life SciencesToledoOhioUnited States.
Abstract:
Objective This study's primary objective was to characterize obstetrical providers' knowledge and utilization of noninvasive prenatal testing (NIPT) for 22q11.2 deletion screening. Study Design A one-time survey was distributed to physicians, nurse practitioners, and midwives. Participants answered 18 multiple-choice questions pertaining to demographic information, clinical use of carrier and NIPT, and knowledge regarding use of NIPT for 22q11.2 deletion syndrome. Responses were descriptively analyzed based on years of clinical experience and provider subspecialty. Results Twenty-two providers responded to the survey: six Obstetrics and Gynecology (OB/GYN) resident physicians, 10 OB/GYN generalist physicians, three Maternal-Fetal Medicine physicians, two nurse practitioners, and one midwife. All resident physicians reported never ordering 22q11.2 deletion NIPT, despite using a Trisomy screening panel, which includes 22q11.2 deletion as an opt out. Conversely, all experienced physicians ( n = 13) reported using expanded panels and screening for 22q11.2 deletion. Only half of our sample who completed the survey ( n = 10) felt adequately informed to counsel patients on screening results and procedures. Conclusion Our findings demonstrate an association between years in practice and the utilization of 22q11.2 deletion NIPT screening. Enhanced educational initiatives beginning during residency are necessary to improve provider knowledge on 22q11.2 deletion screening, information regarding test ordering, and counseling procedures.

