Readiness for Prenatal Genomic Medicine: A Cross-Sectional Survey of Obstetricians' Competence and Attitudes Toward Whole-Exome Sequencing in Xinjiang, China.

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.