Cross-Sectional Survey of 22q11.2 NIPT Screening: A Study of Provider Knowledge
Year: 2025
Type: article
Study design: Observational Study
Abstract: Purpose: Our study’s primary objective is to assess the knowledge and attitudes regarding non-invasive prenatal testing (NIPT) to screen for 22q11.2 deletion syndrome in healthcare providers caring for obstetrical patients. Introduction: 22q11.2 deletion syndrome is a clinically significant microdeletion syndrome associated with substantial morbidity and mortality. Non-invasive prenatal testing (NIPT) has revolutionized prenatal screening, offering a non-invasive method to detect various genetic abnormalities, including 22q11.2 deletion. Despite its potential benefits, the integration of NIPT for 22q11.2 deletion into clinical practice remains inconsistent. This study aims to assess the knowledge and attitudes of healthcare providers towards NIPT for 22q11.2 deletion, shedding light on current practices and identifying gaps in provider education and confidence in patient counseling. By understanding these factors, we can better inform future clinical guidelines and educational initiatives to enhance the utilization of NIPT in prenatal care. Methods: A cross-sectional survey using an online multiple-choice format was conducted among healthcare providers in OB/GYN departments and Maternal-Fetal Medicine divisions at an academic medical center and a large referral center-community hospital system in Northwest Ohio. Participants included trainees, staff, and faculty members, who accessed the anonymous survey via a link or QR code. The survey, administered using QuestionPro software, is comprised of 18 multiple-choice questions covering demographics, clinical use of carrier and NIPT screening, and knowledge and attitudes towards NIPT for 22q11.2 deletion syndrome. The Delphi method was employed to achieve consensus on the final question list. Data collection began on April 23, 2024 and was completed on June 5, 2024. Results: Thirteen physicians completed the survey: five OB/GYN residents, six OB/GYN generalists, and two Maternal-Fetal Medicine specialists. All non-trainee respondents had at least five years of practice experience. All physicians reported using NIPT for fetal aneuploidies (Trisomies 21, 18, and 13), and 92% offered carrier screening. The initial data indicated variability in the use of NIPT based on years in practice. None of the residents reported using NIPT for sex chromosome aneuploidies or microdeletion syndromes, including 22q11.2 deletion. Conversely, all experienced physicians used expanded NIPT panels, with 50% selecting 22q11.2 screening as an add-on. 63% of experienced physicians screened all obstetric patients for 22q11.2 deletion, whereas the other physicians in our sample selected screening only for patients who presented with a detected fetal congenital anomaly or family history of aneuploidy or other genetic disorder. Additionally, 88% of experienced physicians offered multiple NIPT options, compared to 100% of residents who offered a single option which excludes 22q11.2 screening. Regarding provider knowledge, 15% (two experienced OB/GYN physicians) incorrectly equated screening sensitivities for 22q11.2 deletion and common Trisomies. Only 46% of respondents, including both Maternal-Fetal Medicine specialists, felt adequately informed to counsel patients on 22q11.2 deletion screening. However, 77% indicated confidence in managing positive screening results. Conclusions: Given the significant morbidity and mortality associated with 22q11.2 deletion syndrome, early intervention via expanded NIPT is clinically beneficial. However, the performance of NIPT for 22q11.2 deletion lags behind that of the common Trisomies, with an 83% sensitivity reported. Insufficient research exists on how clinicians utilize this information for patient counseling. Our study highlights that only trained physicians use NIPT for 22q11.2 deletion, with limited confidence in counseling. These findings underscore the need for enhanced education during residency to ensure comprehensive patient counseling. Continued recruitment aims to expand these initial findings to inform future clinical recommendations and standardize counseling guidelines.
DOI: 10.54053/001c.132362
Authors: Juliana Simon, Nabila Azeem, James Van Hook, Dani Zoorob, Hind Moussa
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4409654640