2026 Agenda

Clinical applications of prenatal exome sequencing: Exome sequencing can pinpoint the genetic causes of fetal anomalies that are unexplained by standard tests (karyotype, microarray), providing definitive diagnoses for conditions detected on prenatal ultrasound. This genomics-driven insight allows more targeted counselling and tailored perinatal care planning for affected pregnancies. 

Diagnostic yield & decision-making: Introducing prenatal exome sequencing significantly increases diagnostic yield – by ~8.5–10% overall (up to ~15–18% in cases with multiple anomalies) beyond conventional prenatal genetics. Importantly, obtaining a molecular diagnosis can empower parents in making informed decisions about pregnancy management and neonatal planning. 

Integration into fetal medicine practice: Effective integration of fetal exome sequencing requires a specialised multidisciplinary team and appropriate training. Obstetricians, clinical geneticists, genetic counsellors, and other specialists must collaborate on interpretation, while rapid sequencing pipelines (now achieving approximately 2–3 week turnaround) and comprehensive pre- and post-test counselling ensure this innovation is adopted responsibly in routine Fetal Medicine care.