Retrospectively investigating the 12-year experience of prenatal diagnosis of small supernumerary marker chromosomes through array comparative genomic hybridization.

Research paper by Min-Hui MH Huang, Cagge C Lee, Jia-Shyuhn JS Chang, Han-Chow HC Wang, Hui-Ling HL Lai, Chu-Chu CC Chang, Tzu-Wang TW Chen, Yu-Fen YF Li, Ting-Tse TT Lin, Chih-Yun CY Yang, Shu-Peng SP Ho

Indexed on: 15 Jan '19Published on: 15 Jan '19Published in: Taiwanese Journal of Obstetrics & Gynecology


This study retrospectively evaluated the incidences of small supernumerary marker chromosomes (sSMCs) in prenatal diagnoses and detected with gain of pathogenic copy number variation through array comparative genomic hybridization (CGH) in a laboratory in Taiwan. We retrospectively searched and reviewed the sSMC cases detected during prenatal diagnoses in the Youthgene medical laboratory, between 2004 and 2015 and used array CGH to successfully analyze 45 of 47,XN,+mar or 47,XN + mar/46,XN. A total of 68,087 cases of amniocentesis were analyzed, of which 59 were identified as sSMCs. The overall frequency of sSMCs was 0.087%, and 7 of 45 sSMCs were identified with gain of pathogenic copy number variation (CNV). Array CGH offers useful tools that can be used to detect small fragments of chromosomal abnormalities and sSMC origins in prenatal diagnosis. In this study, we successfully used array CGH to detect 7 out of 45 sSMCs, which were identified with gain in pathogenic CNV. Copyright © 2018. Published by Elsevier B.V.