Table 1 Diagnostic yields in 1023 prenatal samples by chromosomal microarray (CMA) and low-pass genome sequencing (GS)

From: Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis

Sample type

Sample numbers

Low-pass GSa

CMAa

Aneuploidies

P/LP CNVs

Overall

Aneuploidies

P/LP CNVs

Overall

Amniotic fluid

885

62 (7.0%, 5.5 to 8.9)

43 (4.9%, 3.6 to 6.5)

103 (11.6%, 9.7 to 13.9)b

62 (7.0%, 5.5 to 8.9)

31 (3.5%, 2.5 to 4.9)

91 (10.3%, 8.5 to 12.5)b

Chorionic villi

120

25 (20.8%, 14.5 to 28.9)

9 (7.5%, 4.0 to 13.6)

33 (27.5%, 20.3 to 36.1)c

25 (20.8%, 14.5 to 28.9)

6 (5%, 2.3 to 10.5)

30 (25%, 18.1 to 33.4)c

Cord blood

18

0 (0%, 0 to 17.6)

2 (11.1%, 3.1 to 32.8)

2 (11.1%, 3.1 to 32.8)

0 (0%, 0 to 17.6)

0 (0%, 0 to 17.6)

0 (0%, 0 to 17.6)

Total

1023

87 (8.5%, 6.9 to 10.4)

54 (5.3%, 4.1 to 6.8)

138 (13.5%, 11.5 to 15.7)b,c

87 (8.5%, 6.9 to 10.4)

37 (3.6%, 2.6 to 5.0)

121 (11.8%, 10.0 to 14.0)b,c

  1. The data in each bracket refer to the detection rate and 95% confidence interval. Percentage shows the frequency of samples with aneuploidy or pathogenic or likely pathogenic copy-number variants (P/LP CNVs).
  2. aDiagnostic yields were calculated based on the number of cases detected with numerical disorders or P/LP CNVs.
  3. bTwo cases with aneuploidy and P/LP CNVs.
  4. cOne case with aneuploidy and P/LP CNVs.
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