Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations

Abstract excerpt

OBJECTIVE: To report five cases of major congenital malformations associated with common aneuploidies detected by rapid aneuploidy diagnosis. CASE REPORTS: The fetus in the first case presented cebocephaly, semilobar holoprosencephaly, and tetralogy of Fallot on ultrasound at 25 gestational weeks. Cordocentesis using multiplex ligation-dependent probe amplification to detect aneuploidies of chromosomes X, Y, 13,...

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