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Table 3 Clinical data of 60 cases with normal karyotype but pathogenic microdeletion/duplication

From: Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis

Pathogenic microdeletion/duplication

(n)

Termination of pregnancy (n)

Continued pregnancy(n)

Pregnancy outcomes

Xp22.31 deletion

X-linked ichthyosis

17

6

11

3 female fetuses, 2 of which continued pregnancy, and 1 of which terminated due to severe type thalassaemia.

14 male fetuses, 9 of which continued pregnancy, and 5 of which terminated.

22q11.21 deletion

Digeorge syndrome

7

6

1

The pregnant women have mild mental retardation, fetus had right aortic arch, maternal derived 22q11.21 microdeletion, the couple chose to continue pregnancy

Xp21.1 deletion

Duchenne muscular dystrophy

1

1

0

Male fetus, the couple chose to terminate the pregnancy。

Xp21.1 duplication

Duchenne muscular dystrophy

1

0

1

Female fetus, the couple chose to continue the pregnancy。

Other pathogenic autosomal microdeletion/duplication

34

30

4

2 cases of 17p12 deletion (1 case was maternal origin), 1 case of 1q21.1-q21.2 deletion (maternal origin), 22q11.2 microduplication (paternal origin), the couple chose to continue the pregnancy.

Total

60

44

16