Yiqing Yu, Xiaoli Wang, Tingting Song, Na Hao, Yan Lü
Obstetricians in Xinjiang showed favorable attitudes toward prenatal WES but limited self-perceived competence in counseling and interpretation. These findings highlight a gap between the expanding use of genomic testing and clinicians' perceived preparedness, emphasizing the need for targeted education and clearer clinical guidance.
INTRODUCTION: As prenatal whole-exome sequencing (WES) becomes increasingly available, general obstetricians need to identify appropriate candidates for referral, while maternal-fetal medicine (MFM) specialists are involved in WES-related counseling, testing decisions, and pregnancy management. This study assessed obstetricians' self-reported competence and attitudes toward prenatal WES and explored MFM specialists' perspectives in Xinjiang, a geographically vast and resource-limited region in northwestern China.
METHODS: A two-stage cross-sectional survey was conducted between April 2025 and February 2026 using self-administered questionnaires. In the first-stage survey, 849 questionnaires were collected from obstetricians providing antenatal care across Xinjiang, of which 666 were valid and included. The second-stage survey was completed by 36 of 71 eligible MFM specialists. The surveys evaluated self-perceived competence, attitudes toward WES indications, and MFM specialists' perspectives on testing strategies, timing, and result disclosure. Group comparisons used non-parametric tests, and multivariable binary logistic regression identified factors associated with self-reported competence.
RESULTS: Among 666 obstetricians, self-perceived competence was lowest for WES and single-gene disorders across different technologies and genetic disorders, respectively. MFM specialization was the factor most consistently associated with higher self-reported competence (OR range: 3.07-6.36; all P < 0.001). Most obstetricians supported WES for fetal structural anomalies (89.2%) and adverse reproductive or family history (89.3%). Among 36 MFM specialists, 44.4% had independently provided WES counseling, and 13.9% were very confident in interpreting WES results. Most favored individualized testing strategies (52.8%) and rejected strict gestational age limits (80.6%). Variants of uncertain significance and incidental findings were considered difficult to interpret, but most specialists supported disclosure in some form.
CONCLUSION: Obstetricians in Xinjiang showed favorable attitudes toward prenatal WES but limited self-perceived competence in counseling and interpretation. These findings highlight a gap between the expanding use of genomic testing and clinicians' perceived preparedness, emphasizing the need for targeted education and clearer clinical guidance.