title: Rapid detection of aneuploidy and unbalanced chromosomal rearrangements by subtelomeric multiplex ligation-dependent probe amplification in fetuses with congenital heart disease.
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.
authors.affiliation: Laboratory of Genetics, West China Institute of Women and Children's Health, West China Second Hospital of Sichuan University, Chengdu, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.forename: Zhen
authors.initials: Z
authors.lastname: Liu
authors.forename: Hongqian
authors.initials: H
authors.lastname: Liu
authors.forename: Nana
authors.initials: N
authors.lastname: Li
authors.forename: Shengli
authors.initials: S
authors.lastname: Li
authors.forename: Xinlin
authors.initials: X
authors.lastname: Chen
authors.forename: Yuan
authors.initials: Y
authors.lastname: Lin
authors.forename: He
authors.initials: H
authors.lastname: Wang
authors.forename: Jun
authors.initials: J
authors.lastname: Zhu
authors.forename: Shanling
authors.initials: S
authors.lastname: Liu
mesh_terms: D000782:Aneuploidy; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000150:complications / Q000175:diagnosis*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics*; D006801:Humans; D007621:Karyotyping / Q000379:methods; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D011446:Prospective Studies