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Evaluation of genetic variants using chromosomal microarray analysis for fetuses with polyhydramnios.

Xiaoqing Wu1,2,3, Ying Li1,2, Na Lin1,2

  • 1Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, No. 18 Daoshan Road, Fuzhou City, 350001, Fujian Province, China.

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Chromosomal microarray analysis (CMA) in pregnancies with non-isolated polyhydramnios identified significant chromosomal aberrations. CMA is not recommended for isolated polyhydramnios due to limited diagnostic yield.

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Area of Science:

  • Prenatal diagnostics
  • Genetics
  • Maternal-fetal medicine

Background:

  • Polyhydramnios, excessive amniotic fluid, increases the risk of abnormal fetal karyotype.
  • Limited studies exist on chromosomal microarray analysis (CMA) for polyhydramnios pregnancies.
  • This study evaluates CMA's utility in polyhydramnios cases.

Purpose of the Study:

  • To assess the diagnostic yield of CMA in pregnancies complicated by polyhydramnios.
  • To compare CMA findings in isolated versus non-isolated polyhydramnios.
  • To determine the clinical significance of CMA in detecting chromosomal aberrations.

Main Methods:

  • Retrospective review of 131 singleton and 17 twin pregnancies with polyhydramnios undergoing prenatal CMA.
  • Cases classified into isolated polyhydramnios (N=39) and non-isolated polyhydramnios (N=111).
  • Non-isolated group further divided into subgroups with soft markers (n=59) and without soft markers (n=52).

Main Results:

  • CMA detected clinically significant chromosomal aberrations in 6.7% of fetuses (10 cases).
  • Four of six microdeletion/microduplication syndromes involved chromosome 17.
  • The incremental yield of CMA was 8.1% for non-isolated polyhydramnios, 5.1% with soft markers, and 11.5% without soft markers.

Conclusions:

  • Non-isolated polyhydramnios is linked to microdeletion/microduplication syndromes in both singleton and twin pregnancies.
  • Current evidence does not support routine CMA use in isolated polyhydramnios.
  • CMA is valuable for non-isolated polyhydramnios, especially when soft markers are absent.