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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