title: [Prenatal diagnosis of chromosome abnormalities and nine microdeletion syndromes using both traditional karyotyping and BoBs].
abstract: OBJECTIVE
  To evaluate a new prenatal diagnosis model of chromosomal abnormalities and nine microdeletion syndromes by using both traditional karyotyping and a newly-developed rapid prenatal diagnosis technology, BACs-on-Beads (BoBs) technique.
  
  
  METHODS
  From June 2012 to December 2014, 807 pregnant women with high risk after screening or with other indicators, were performed amniocentesis. Traditional karyotyping and BoBs were employed simultaneously for prenatal diagnosis.
  
  
  RESULTS
  Thirty-two cases with chromosome aneupoidies were successfully detected both by BoBs and karyotyping, including 18 cases of trisomy 21, 6 cases of trisomy 18, 1 case of trisomy 13, and 7 cases with sex chromosome abnormality. All 8 fetuses with chromosome structural abnormalities detected by karyotyping were missed by BoBs; while BoBs contributed more in detection of five microdeletion syndrome cases, including 3 cases of DiGeorge syndromes (two with microduplication and one with microdeletion), one case of Miller-Dieker syndrome, and one case of Wolf-Hirschhorn syndrome.
  
  
  CONCLUSIONS
  Combined use of traditional karyotyping and BoBs, is a rapid and effective prenatal diagnosis model that may enlarge our horizon on chromosomal diseases and should be widely used in future clinical service.
authors.affiliation: Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, the Affiliated Hospital of Kunming University of Science and Technology, Kunming 650032, China.
authors.forename: X H
authors.initials: XH
authors.lastname: Tang
authors.forename: B C
authors.initials: BC
authors.lastname: Yang
authors.forename: S
authors.initials: S
authors.lastname: Zhu
authors.forename: J
authors.initials: J
authors.lastname: Su
authors.forename: J M
authors.initials: JM
authors.lastname: Zhang
authors.forename: Y F
authors.initials: YF
authors.lastname: Yin
authors.forename: Y
authors.initials: Y
authors.lastname: Feng
authors.forename: D M
authors.initials: DM
authors.lastname: Li
authors.forename: Q F
authors.initials: QF
authors.lastname: Zhao
authors.forename: R
authors.initials: R
authors.lastname: Yu
authors.forename: B S
authors.initials: BS
authors.lastname: Zhu
mesh_terms: D000649:Amniocentesis / Q000379:methods*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D020732:Cytogenetic Analysis / Q000379:methods*; D004314:Down Syndrome; D005260:Female; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014314:Trisomy; D000073839:Trisomy 13 Syndrome