Application of next-generation sequencing in nonimmune hydrops fetalis and its impact on pregnancy decisions.

NGS application to etiological diagnosis of NIHF and impact on pregnancy management decisions

This single-center retrospective study of 121 pregnancies with nonimmune hydrops fetalis (NIHF) evaluates NGS contribution for identifying chromosomal and monogenic etiologies. NGS identifies a genetic cause in a substantial proportion of cases, improving pregnancy management and prenatal counseling.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

NIHF remains one of the prenatal indications where NGS adds most value: multiple etiologies, diagnosis often impossible without sequencing. These real-world data confirm the value of systematic genomic workup in unexplained fetal hydrops.

Clinical impact: 2/3 · Evidence strength: 3/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 0/1 → Total: 7/10