Genomic abnormalities in apparently isolated polyhydramnios and the role of confirmed fetal phenotype: a systematic review and meta-analysis.

Am J Obstet Gynecol MFM

Second Department of Obstetrics and Gynecology, Faculty of Medicine, School of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece (Tsakmaki, Chatzakis, and Sotiriadis). Electronic address:

Published: October 2024

Objective: The aim of this systematic review and meta-analysis was to assess the rate of genomic abnormalities detected in pregnancies with apparently isolated hydramnios and to explore the role of confirmed fetal phenotype.

Data Sources: The PubMed, Cochrane Library, Google Scholar, and Scopus databases were searched up to May 4, 2024.

Study Eligibility Criteria: Observational studies that were published after the year 2000, written in a European language, and that reported the genomic outcomes of pregnancies complicated by prenatally diagnosed isolated polyhydramnios were included in this meta-analysis.

Methods: The main outcome was the incidence of genomic abnormalities, defined as chromosomal numerical or structural anomalies or monogenic syndromes, that were diagnosed prenatally or postnatally in neonates from pregnancies complicated by isolated polyhydramnios. Additional outcomes included the incidence of chromosomal abnormalities, including both numerical and structural aberrations of the chromosomes (detected by karyotype or chromosomal microarray), monogenic abnormalities (detected by next-generation sequencing or clinical genetic examination after the result of a normal karyotype or chromosomal microarray), genetic syndromes in general (diagnosed clinically with or without genetic confirmation), and structural abnormalities detected postnatally. Pooled proportions were calculated for each outcome.

Results: A total of 12 studies (2561 pregnancies complicated by isolated hydramnios) were included in the meta-analysis. The pooled prevalence of genomic anomalies in fetuses with apparently isolated polyhydramnios (12 studies, 2634 fetuses) was 4.5% (95% confidence interval, 2.6-7.6). The pooled prevalence of chromosomal abnormalities (11 studies, 2427 fetuses) was 2.1% (95% confidence interval, 1.1-3.7). The proportion of major structural defects detected postnatally (9 studies, 1731 fetuses) was 2.9% (95% confidence interval, 1.5-5.4); in this particular subgroup (4 studies, 14 fetuses), the pooled prevalence of genomic anomalies was 29.8% (95% confidence interval, 11.3-58.6). A meta-regression analysis indicated that the rate of genomic anomalies was positively associated with the severity of hydramnios. In addition, the pooled rate of monogenic anomalies was 5.6% (95% confidence interval, 2-5; I=58%) in the 2 studies that used next-generation sequencing for genomic diagnosis.

Conclusion: This meta-analysis showed that the rate of genomic anomalies in apparently isolated polyhydramnios is 4.5%; approximately half of them are chromosomal abnormalities and the other half are nonchromosomal genomic anomalies. From a clinical standpoint, chromosomal microarray analysis and possibly next-generation sequencing could be considered even in cases of apparently isolated polyhydramnios; this may be even more important in cases with incomplete fetal phenotype. Further studies using next-generation sequencing and addressing cost-effectiveness issues would fine-tune such recommendations.

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Source
http://dx.doi.org/10.1016/j.ajogmf.2024.101469DOI Listing

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