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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