Cross-sectional survey of obstetrical providers’ knowledge, attitudes, and use of non-invasive prenatal testing for 22q11.2 deletion

Objective This study’s primary objective was to characterize obstetrical providers’ knowledge and utilization of non-invasive prenatal testing (NIPT) for 22q11.2 deletion screening. Study Design A one-time survey was distributed to physicians, nurse practitioners, and midwives. Participants answered eighteen multiple choice questions pertaining to demographic information, clinical use of carrier and NIPT screening, 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 OB/GYN resident physicians, ten 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 screening, 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 is necessary to improve provider knowledge on 22q11.2 deletion screening, information regarding test ordering, and counseling procedures.