The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision-making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and molecular therapies. Early diagnosis benefits both prenatal and postnatal care by guiding prenatal interventions, or selecting cases that might benefit from postnatal preparedness (when early postnatal treatment alters outcomes), and informing counseling (when it significantly influences pregnancy decision-making) and reproductive planning. The integration of artificial intelligence into prenatal care holds the promise of end-to-end solutions that streamline diagnosis, counseling, and access to both standard and experimental in utero interventions. However, significant ethical and social challenges remain, including equity in access to testing and care, incidental findings, variants of uncertain significance, incomplete penetrance and uncertain phenotype prediction of rare variants and disorders. These complexities raise important questions about reproductive autonomy and justice and responsible use of emerging technologies. This review emphasizes the intimate interplay between early genetic testing and in utero interventions, while highlighting the need for equitable, precise, and community-informed practices in prenatal genomic research and care.

Duke Scholars

Author Jennifer L. Cohen Pediatrics, Medical Genetics