Expanding prenatal diagnosis: clinical utility of prenatal whole-exome sequencing in a Romanian case series with fetal anomalies
Abstract
The prenatal diagnostic field is rapidly expanding internationally, creating a growing need for guidelines and for a better understanding of the clinical utility of new tests across different clinical settings. This study aimed to investigate the diagnostic yield of prenatal whole exome sequencing (WES) and to assess its clinical utility and impact on outcomes among families with high-risk pregnancies and the multidisciplinary teams supervising the cases. We retrospectively reviewed indications, fetal phenotypes, results, turnaround time, and the clinical impact of WES in 10 pregnancies from the Romanian population, investigated in a private clinical diagnostic laboratory between January 2024 and March 2026. The diagnostic yield of prenatal WES was 50% in this case series of Romanian pregnancies with ultrasound-detected malformations and a previous negative microarray result. Seven out of ten patients opted for medical termination of pregnancy. Our findings are consistent with those of other national and international studies, while highlighting the need for improved clinical pathways and guidelines to support appropriate test selection and prenatal management. The multidisciplinary team considered prenatal WES an efficient tool for prenatal diagnosis, with potential to inform pregnancy management, including the choice of maternity hospital level, delivery planning, and personalized neonatal care.
How strong is the evidence?
Evidence Hub reads this as a case series, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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