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Table 2 Distribution of clinically significant CMA findings in fetuses with isolated and non-isolated polyhydramnios

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

  Karyotype-detectable CMA-detectable only Total (%)
T21 (%) T18 (%) CNVs (P + LP) (%) LOH (%)
Isolated (N = 39) 0, 0.0 0, 0.0 1, 2.6 0, 0.0 1, 2.6
Non-isolated(N = 111) 3, 2.7 3, 2.7 8, 7.2 1, 0.9 15, 13.5
soft markers (n = 59) 1, 1.7 0, 0.0 3, 5.1 0, 0.0 4, 6.8
Non-soft markers (n = 52) 2, 3.8 2, 3.8 5, 9.6 1, 1.9 10, 19.2
Total 3, 2.0 3, 2.0 9, 6.0 1, 0.7 16, 6.7
  1. T21, trisomy 21; T18, trisomy 18; CNVs, copy number variants; P, pathogenic; LP, likely pathogenic; LOH, loss of heterozygosity