Prenatal diagnosis · 2026
Variation in the Genetic Workup of Polyhydramnios: An International and Inter-Specialty Survey.
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Zemet Roni, Yaron Yuval, Sagi-Dain Lena
Аннотация
OBJECTIVE: To evaluate international and interprofessional variability in the definition and genetic evaluation of polyhydramnios, and to identify factors influencing clinical decision-making.
METHOD: An international electronic survey was distributed to healthcare professionals, addressing definitions of polyhydramnios, criteria for recommending invasive diagnostic prenatal testing, and preferred genetic testing strategies. Responses were analyzed by geographic region and professional specialty.
RESULTS: A total of 154 clinicians from diverse regions completed the survey. Most defined polyhydramnios using absolute ultrasound values rather than percentiles. While 17.8% recommended invasive diagnostic testing for any pregnancy with polyhydramnios, 41.8% did so only when additional anomalies were present. Maternal-fetal medicine specialists were less likely to recommend invasive diagnostic testing (e.g., amniocentesis), particularly for mild isolated cases, whereas geneticists and genetic counselors were more likely to recommend prenatal genetic testing. US-based respondents were more likely to recommend only fetal chromosome analysis, whereas Israeli respondents tended to recommend advanced molecular diagnostics even in isolated cases.
CONCLUSION: Substantial variability was noted in the genetic evaluation of polyhydramnios, driven by specialty and geographic factors. These findings highlight the absence of a consistent evidence base and underscore the need for studies defining diagnostic yield by clinical scenario and testing modality to inform evidence-based decision-making, while recognizing that practice patterns also reflect local resources and healthcare systems.
METHOD: An international electronic survey was distributed to healthcare professionals, addressing definitions of polyhydramnios, criteria for recommending invasive diagnostic prenatal testing, and preferred genetic testing strategies. Responses were analyzed by geographic region and professional specialty.
RESULTS: A total of 154 clinicians from diverse regions completed the survey. Most defined polyhydramnios using absolute ultrasound values rather than percentiles. While 17.8% recommended invasive diagnostic testing for any pregnancy with polyhydramnios, 41.8% did so only when additional anomalies were present. Maternal-fetal medicine specialists were less likely to recommend invasive diagnostic testing (e.g., amniocentesis), particularly for mild isolated cases, whereas geneticists and genetic counselors were more likely to recommend prenatal genetic testing. US-based respondents were more likely to recommend only fetal chromosome analysis, whereas Israeli respondents tended to recommend advanced molecular diagnostics even in isolated cases.
CONCLUSION: Substantial variability was noted in the genetic evaluation of polyhydramnios, driven by specialty and geographic factors. These findings highlight the absence of a consistent evidence base and underscore the need for studies defining diagnostic yield by clinical scenario and testing modality to inform evidence-based decision-making, while recognizing that practice patterns also reflect local resources and healthcare systems.