title: Detection of complex deletions in chromosomes 13 and 21 in a fetus by noninvasive prenatal testing.
abstract: BACKGROUND
  To detect complex fetal subchromosomal abnormalities by noninvasive prenatal testing (NIPT).
  
  
  METHODS
  After routine prenatal serum screening, the plasma of high-risk pregnant women were tested via NIPT, and the NIPT results were further validated by fetal karyotype analysis and array-based comparative genomic hybridization (aCGH) through amniocentesis. In addition, the chromosome karyotypes of the parents were also analyzed. NIPT results indicated subchromosomal abnormalities in chromosomes 13 and 21; aCGH results showed 22 Mb and 16 Mb deletions in 13 q31.3 - q34 and 21q11.1 - q21.3, respectively; and the fetal karyotype was 45,XX, der(13),-21. The maternal karyotype 46,XX,inv(9)(p12q13),t(13;21)(q31.3;q21.3) was abnormal, while the paternal karyotype showed no obvious abnormality.
  
  
  CONCLUSIONS
  In this study, we successfully detected complex deletions in chromosomes 13 and 21 in a fetus using NIPT, and NIPT can provide effective genetic information for the detection of fetal subchromosomal abnormalities.
authors.affiliation: Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu 215002 China.
authors.forename: Ting
authors.initials: T
authors.lastname: Wang
authors.affiliation: Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu 215002 China.
authors.forename: Chengying
authors.initials: C
authors.lastname: Duan
authors.affiliation: Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu 215002 China.
authors.forename: Cong
authors.initials: C
authors.lastname: Shen
authors.affiliation: Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu 215002 China.
authors.forename: Jingjing
authors.initials: J
authors.lastname: Xiang
authors.affiliation: Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu 215002 China.
authors.forename: Quanze
authors.initials: Q
authors.lastname: He
authors.affiliation: Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu 215002 China.
authors.forename: Jie
authors.initials: J
authors.lastname: Ding
authors.affiliation: Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu 215002 China.
authors.forename: Ping
authors.initials: P
authors.lastname: Wen
authors.affiliation: Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu 215002 China.
authors.forename: Qin
authors.initials: Q
authors.lastname: Zhang
authors.affiliation: Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu 215002 China.
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.affiliation: Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu 215002 China.
authors.forename: Minjuan
authors.initials: M
authors.lastname: Liu
authors.affiliation: Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu 215002 China.
authors.forename: Hong
authors.initials: H
authors.lastname: Li
authors.affiliation: Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu 215002 China.
authors.forename: Haibo
authors.initials: H
authors.lastname: Li
authors.affiliation: Center for Medical Ultrasound, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu China.
authors.forename: Lili
authors.initials: L
authors.lastname: Zhang
keywords: Array-based comparative genomic hybridization; Karyotype analysis; Noninvasive prenatal testing; Subchromosomal abnormalities