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

• Main Authors: Chih-Ping Chen (Author), Yi-Ning Su (Author), Shin-Yu Lin (Author), Chih-Long Chang (Author), Yeou-Lih Wang (Author), Jiau-Pei Huang (Author), Chen-Yu Chen (Author), Fang-Yu Hung (Author), Yi-Yung Chen (Author), Pei-Chen Wu (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2011-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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. C...