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 |