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- Title
Rapid Detection of Aneuploidy and Unbalanced Chromosomal Rearrangements by Subtelomeric Multiplex Ligation-Dependent Probe Amplification in Fetuses with Congenital Heart Disease.
- Authors
Wang, Jing; Liu, Zhen; Liu, Hongqian; Li, Nana; Li, Shengli; Chen, Xinlin; Lin, Yuan; Wang, He; Zhu, Jun; Liu, Shanling
- Abstract
Objective: To validate multiplex ligation-dependent probe amplification (MLPA) with subtelomeric probe mixes as a tool for diagnosis of aneuploidy and unbalanced terminal chromosomal rearrangements in fetuses with congenital heart disease. Methods: A prospective study of 117 fetuses found to have structural heart defects by ultrasound at 17-40 weeks' gestation. MLPA with P036E and P070B probe mixes was performed and compared to traditional karyotyping by cell culture and to findings of quantitative fluorescence-polymerase chain reaction (QF-PCR). Results: MLPA was able to define the fetal karyotype in 99% of cases whereas cell culture only defined the karyotype in 64% of cases. Consequently, the overall number of chromosomal abnormalities that were detected increased. The majority of these affected chromosomes, 21, 18, 13, X or Y, were also confirmed by QF-PCR. Two (5%) cases had atypical aneuploidy that was confirmed by MLPA but not by QF-PCR. In 4 cases, structural rearrangements or mosaicism were not detected by MLPA. Conclusions: Subtelomeric MLPA may be a valuable adjunct to QF-PCR and/or conventional cytogenetics for the investigation of chromosomal abnormalities in fetuses with congenital heart disease. Copyright © 2013 S. Karger AG, Basel
- Subjects
ANEUPLOIDY; CHROMOSOMAL rearrangement; LIGATURE (Surgery); DNA probes; CONGENITAL heart disease; FETAL diseases; GENE amplification
- Publication
Fetal Diagnosis & Therapy, 2013, Vol 34, Issue 2, p110
- ISSN
1015-3837
- Publication type
Article
- DOI
10.1159/000350272