Detection of complex deletions in chromosomes 13 and 21 in a fetus by noninvasive prenatal testing

Ting Wang; Chengying Duan; Cong Shen; Jingjing Xiang; Quanze He; Jie Ding; Ping Wen; Qin Zhang; Wei Wang; Minjuan Liu; Hong Li; Haibo Li; Lili Zhang

doi:10.1186/s13039-016-0213-4

Detection of complex deletions in chromosomes 13 and 21 in a fetus by noninvasive prenatal testing

Mol Cytogenet. 2016 Jan 12:9:3. doi: 10.1186/s13039-016-0213-4. eCollection 2016.

Authors

Ting Wang^#¹, Chengying Duan^#¹, Cong Shen¹, Jingjing Xiang¹, Quanze He¹, Jie Ding¹, Ping Wen¹, Qin Zhang¹, Wei Wang¹, Minjuan Liu¹, Hong Li¹, Haibo Li¹, Lili Zhang²

Affiliations

¹ Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu 215002 China.
² Center for Medical Ultrasound, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu China.

^# Contributed equally.

Abstract

Background: To detect complex fetal subchromosomal abnormalities by noninvasive prenatal testing (NIPT).

Case presentation: 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.

Conclusion: 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.

Keywords: Array-based comparative genomic hybridization; Karyotype analysis; Noninvasive prenatal testing; Subchromosomal abnormalities.

Publication types

Case Reports