Chromosomal aberrations in idiopathic polyhydramnios: A systematic review and meta-analysis

Eur J Med Genet. 2015 Aug;58(8):409-15. doi: 10.1016/j.ejmg.2015.06.010. Epub 2015 Jul 14.

Abstract

The objective of this meta-analysis was to summarize the existing literature examining the risk of chromosomal aberrations in idiopathic polyhydramnios. Search was conducted by a research librarian in five databases. Language and time restrictions were not applied. By independent screening of titles and abstracts, two investigators selected original researches examining the risk of chromosomal aberrations in idiopathic polyhydramnios. Twenty articles were included, encompassing a total of 1729 pregnancies with idiopathic polyhydramnios. The average rate of chromosomal aberrations in these cases was 2.8 ± 3.7%, ranging between 0% and 13.8%. No studies were found examining the relative risk for chromosomal abnormalities in low-risk women with idiopathic polyhydramnios. An analysis of seven case-control trials, including women at high risk for aneuploidy, yielded a relative risk of 3.09 (95% confidence interval 1.92-4.97) for chromosomal aberration. Overall quality of evidence was rated as very low using Grading of Recommendations Assessment, Development and Evaluation criteria. In conclusion, the suboptimal quality of the evidence precludes from drawing any solid recommendations regarding routine karyotype testing in idiopathic polyhydramnios cases, especially in women at low risk for chromosomal aberrations. Future high-quality trials addressing the discussed methodological shortcomings should be conducted to assess this important issue.

Keywords: Chromosomal aberrations; Idiopathic polyhydramnios.

Publication types

  • Meta-Analysis
  • Review
  • Systematic Review

MeSH terms

  • Amniotic Fluid
  • Chromosome Aberrations*
  • Female
  • Humans
  • Karyotyping
  • Polyhydramnios / diagnosis*
  • Polyhydramnios / genetics*
  • Polyhydramnios / pathology
  • Pregnancy
  • Retrospective Studies
  • Risk Factors