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Table 6 Comparison of abnormal results from CMA and karyotyping in 321 fetuses

From: Is an analysis of copy number variants necessary for various types of kidney ultrasound anomalies in fetuses?

Abnormal results

n

Detected with karyotyping

Detected with CMA

n (%)

n (%)

Chromosomal abnormalities (≥10 Mb) a

10

10 (100)

9 (90.0)

Aneuploidy

6

6 (100)

6 (100)

 45, X

2

2

2

 47, XXX

1

1

1

 47, XY, + 21

1

1

1

 47, XY, + 13

1

1

1

 45, X[18]/46, X, Yqh-[19]

1

1

1

Segmental deletion/duplication

3

3 (100)

3 (100)

 46, XY, der(22)t(Y;22)(q11;q13.3)

1

1

1

 46, XY, der(9)t(2;9)(q37;q34)

1

1

1

 47, XY, +mar[8]/46,XY[30] b

1

1

1

Balanced inversion

1

1 (100)

0

 46, XY, inv.(20) (p13q13.1) mat

1

1

0

Clinically significant CNVs (< 10 Mb) c

15

1 (6.7)

15 (100)

VOUS (< 10 Mb) c

14

0

14 (100)

AOH (≥10 Mb) d

6

0

6 (100)

Total

45

11 (24.4)

44 (97.8)

  1. CMA chromosomal microarray analysis, CNVs copy number variants, VOUS variants of uncertain significance, AOH absence of heterozygosity
  2. aDescribed based on karyotype results
  3. bCMA showed a mosaic duplication with a size of 20.98 Mb: arr[hg19] 2p11.2q12.1(83611838_1045 94,881) × 2.46
  4. c2 fetuses that did not undergo karyotyping were excluded
  5. d1 fetus that failed karyotyping was excluded
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Molecular Cytogenetics

ISSN: 1755-8166