構造上正常な胎児を持つ妊娠における標的型次世代シーケンシングの役割：産科ケアの進歩

This study aimed to establish a targeted fetal next-generation sequencing (NGS) panel and evaluate its diagnostic yield in sonographically normal fetuses.

A retrospective analysis was conducted on 1,820 cases of sonographically normal fetuses who underwent fetal NGS targeted panel testing, based on parental requests, between June 2021 and June 2023.

Among the 1,820 cases analyzed, 833 cases (45.8%) showed no anomalies, 893 cases (49.1%) were identified with abnormal carrier statuses, and 94 cases (5.2%) exhibited pathogenic condition. The most frequently identified condition was glucose-6-phosphate dehydrogenase (G6PD) deficiency, with hemizygous mutations observed in 35 cases. This was followed by homozygous pathogenic variants in the GJB2 gene, identified in 19 cases. Additionally, 83 cases exhibited G6PD gene mutations, and 344 cases were identified as carriers of GJB2 gene variants. Other notable findings included 15 cases of familial hypercholesterolemia, 5 cases of Noonan syndrome, and 2 cases of osteogenesis imperfecta. Rare disorders identified were Wilson's disease, cystic fibrosis, Cockayne syndrome, and ototoxic hearing loss, each occurring in a single case.

The study demonstrated that the fetal NGS targeted panel yielded critical findings in 5.16% of sonographically normal fetuses, emphasizing its potential in prenatal diagnostics. Effective screening requires careful variant selection and detailed pre- and post-test genetic counseling to ensure clinical relevance and informed decision-making for parents.