title: [Application of combined chromosome karyotype analysis and multiplex ligation probe amplification technique for the prenatal diagnosis of fetal abnormalities].
abstract: OBJECTIVE
  To assess the value of combined chromosome karyotype analysis and multiplex ligation probe amplification (MLPA) assay for the prenatal diagnosis of fetuses with abnormalities detected by ultrasonography.
  
  
  METHODS
  With informed consent obtained, 72 pregnant women with ultrasound detected fetal structural abnormalities underwent percutaneous umbilical cord blood sampling. Routine karyotype analysis and MLPA assay were used to detect potential chromosomal deletions and duplications.
  
  
  RESULTS
  Five cases were found with an abnormal karyotype. In addition, the MLPA has detected 2 chromosomal microdeletions and 1 microduplication. Together the two methods have yielded a detection rate of 11.11%.
  
  
  CONCLUSIONS
  For fetal abnormalities revealed by ultrasonography, combined karyotype analysis and MLPA assay can provide a better option for its efficiency and simplicity.
authors.affiliation: Genetic Testing Center, Qingdao Women & Children's Hospital, Qingdao, Shandong 266034, China. dongyi_yu@163.com.
authors.forename: Nan
authors.initials: N
authors.lastname: Jiang
authors.forename: Dongyi
authors.initials: D
authors.lastname: Yu
mesh_terms: D000328:Adult; D002875:Chromosomes / Q000235:genetics*; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D007621:Karyotyping / Q000379:methods; D008026:Ligation / Q000379:methods; D008875:Middle Aged; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D055815:Young Adult