Huang Min-Hui, Lee Cagge, Chang Jia-Shyuhn, Wang Han-Chow, Lai Hui-Ling, Chang Chu-Chu, Chen Tzu-Wang, Li Yu-Fen, Lin Ting-Tse, Yang Chih-Yun, Ho Shu-Peng
Department of Veterinary Medicine, National Chung Hsing University, Taichung, Taiwan; Youthgene Medical Laboratory, Taipei, Taiwan; Dr. Lee Woman Clinic, Taipei, Taiwan.
Youthgene Medical Laboratory, Taipei, Taiwan; Dr. Lee Woman Clinic, Taipei, Taiwan.
Taiwan J Obstet Gynecol. 2019 Jan;58(1):139-144. doi: 10.1016/j.tjog.2018.11.026.
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.
本研究回顾性评估了台湾某实验室在产前诊断中微小额外标记染色体（sSMC）的发生率，并通过阵列比较基因组杂交（CGH）检测出致病性拷贝数变异增加的情况。
我们回顾性检索并分析了2004年至2015年间在青年基因医学实验室产前诊断期间检测到的sSMC病例，并使用阵列CGH成功分析了47例，XN，+mar或47，XN + mar/46，XN中的45例。
共分析了68087例羊膜穿刺术病例，其中59例被鉴定为sSMC。sSMC的总体发生率为0.087%，45例sSMC中有7例被鉴定为致病性拷贝数变异（CNV）增加。
阵列CGH提供了有用的工具，可用于在产前诊断中检测染色体异常的小片段和sSMC的起源。在本研究中，我们成功地使用阵列CGH在45例sSMC中检测出7例，这些病例被鉴定为致病性CNV增加。
