ArticleBMC pregnancy and childbirth2026
Application of next-generation sequencing in nonimmune hydrops fetalis and its impact on pregnancy decisions.
Article in BMC pregnancy and childbirth, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors.
Funding
Abstract
backgroundNonimmune hydrops fetalis (NIHF) has a highly heterogeneous etiology, with genetic factors contributing substantially to its pathogenesis. This study aimed to investigate the chromosomal and monogenic etiologies of NIHF.
methodsThis single-center retrospective cohort study included 121 pregnancies complicated by NIHF evaluated at a tertiary referral center between August 2020 and August 2023. All cases underwent copy number variation sequencing (CNV-seq), and 95 additionally underwent whole-exome sequencing (WES), both assays were based on next-generation sequencing (NGS) technology. Cases were stratified according to gestational age at diagnosis, maternal age, conception method, and whether NIHF was isolated or non-isolated. Genetic findings and pregnancy outcomes were analyzed and compared across subgroups, with longitudinal follow-up of pregnancy outcomes.
resultsAmong the 121 NIHF cases, pathogenic or likely pathogenic genetic findings were identified in 62 cases, yielding an overall positivity rate of 51.2% (62/121). CNV-seq detected pathogenic abnormalities in 49 cases (40.5%, 49/121), including 38 numerical chromosomal abnormalities and 11 structural chromosomal abnormalities. Among the 95 fetuses that underwent WES, 14 had pathogenic or likely pathogenic variants, corresponding to a positivity rate of 14.7% (14/95). RASopathies (RIT1, RAF1, and BRAF) and skeletal disorders (FGFR2, COL1A1, and HSPG2) were the most frequently identified monogenic conditions. The overall genetic positivity rate was significantly higher in cases diagnosed at ≤ 13
conclusionNIHF is associated with a broad spectrum of genetic abnormalities, including aneuploidies, pathogenic structural chromosomal abnormalities, and single-gene disorders. After excluding aneuploidy, the diagnostic yields of pathogenic CNVs and WES were comparable across clinical subgroups. These findings suggest that expanded genomic testing may be valuable across the spectrum of NIHF and may help inform genetic counseling and future pregnancy planning.
Indexed as
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.