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Abstract
Objective: To assess the effetiveness of BACs-on-Beads (BoBs) method for detecting chromosome microdeletion syndromes and aneuploidy of fetus with cardiac anomalities.
Method: For 100 women with singleton pregnancy and their fetus with cardiovascular system anomalities were indicated prenatal diagnosis by karyotyping and BoBs from their amnionic fluid samples.
Results: 28/100 pregnancies have chromosomal aberration in which eight cases are associated with microdiletion or microduplication syndromes. By BoBs, syndromes of DiGeorge, Cri-du-chat, Prader Willi/Anggelman, microduplication 18 (q22.1q22.2) were detected, but karyotyping were not. 20 cases with aneuploidy were successfully detected by both BoBs and karyotyping, including 10 cases of trisomy 21, 9 cases of trisomy 18, 1 case of trisomy 13.
Conclusion: For pregnant women with cardiovascular abnormalities, both techniques (karyotyping and BoBs) should be used simultaneously to increase the detection rate of fetal chromosomal abnormalities including microdiletion, microduplications and aneuploidy.
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