title: [Combined G-banded karyotyping and multiplex ligation-dependent probe amplification for the detection of chromosomal abnormalities in fetuses with congenital heart defects].
abstract: OBJECTIVE
  To assess the value of G-banded karyotyping in combination with multiplex ligation-dependent probe amplification (MLPA) as a tool for the detection of chromosomal abnormalities in fetuses with congenital heart defects.
  
  
  METHODS
  The combined method was used to analyze 104 fetuses with heart malformations identified by ultrasonography. Abnormal findings were confirmed with chromosomal microarray analysis (CMA).
  
  
  RESULTS
  Nineteen (18%) fetuses were found to harbor chromosomal aberrations by G-banded karyotyping and MLPA. For 93 cases, CMA has detected abnormalities in 14 cases including 10 pathogenic copy number variations (CNVs) and 4 CNVs of uncertain significance (VOUS). MLPA was able to detect all of the pathogenic CNVs and 1 VOUS CNV.
  
  
  CONCLUSIONS
  Combined use of G-banded karyotyping and MLPA is a rapid, low-cost and effective method to detect chromosomal abnormalities in fetuses with various heart malformations.
authors.affiliation: Center for Prenatal Diagnosis, Shenzhen Maternity and Child Healthcare Hospital Affiliated to Southern Medical University, Shenzhen, Guangdong 518017, China. jsxieszmch@aliyun.com.
authors.forename: Yang
authors.initials: Y
authors.lastname: Liu
authors.forename: Jiansheng
authors.initials: J
authors.lastname: Xie
authors.forename: Qian
authors.initials: Q
authors.lastname: Geng
authors.forename: Zhiyong
authors.initials: Z
authors.lastname: Xu
authors.forename: Weiqin
authors.initials: W
authors.lastname: Wu
authors.forename: Fuwei
authors.initials: F
authors.lastname: Luo
authors.forename: Suli
authors.initials: S
authors.lastname: Li
authors.forename: Qin
authors.initials: Q
authors.lastname: Wang
authors.forename: Wubin
authors.initials: W
authors.lastname: Chen
authors.forename: Hongxi
authors.initials: H
authors.lastname: Tan
authors.forename: Hu
authors.initials: H
authors.lastname: Zhang
mesh_terms: D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D056915:DNA Copy Number Variations; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007621:Karyotyping / Q000379:methods; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity