Fu Fang, Li Ru, Dang Xiao, Yu Qiuxia, Xu Ke, Gu Weiyue, Wang Dan, Yang Xin, Pan Min, Zhen Li, Zhang Yongling, Li Fatao, Jing Xiangyi, Li Fucheng, Li Dongzhi, Liao Can
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, China.
Guangzhou Medical University, Guangzhou, China.
Front Genet. 2022 Sep 15;13:951829. doi: 10.3389/fgene.2022.951829. eCollection 2022.
Balanced chromosomal abnormalities (BCAs) are the most common chromosomal abnormalities and the frequency of congenital abnormalities is approximately twice as high in newborns with a BCA, but a prenatal diagnosis based on BCAs is subject to evaluation. To detect translocation breakpoints and conduct a prenatal diagnosis, we performed whole-genome sequencing (WGS) in 21 subjects who were found BCAs, 19 balanced chromosome translocations and two inversions, in prenatal screening. In 16 BCAs on non-N-masked regions (non-NMRs), WGS detected 13 (81.2%, 13/16) BCAs, including all the inversions. All the breakpoints of 12 (12/14) cases of sufficient DNA were confirmed by Sanger sequencing. In 13 interrupted genes, (in case 12) and (in case 17) are known causative and was found in subject (case 11) with situs inversus for the first time. Case 12 with abnormal ultrasound reached a definitive genetic diagnosis of -disease, while exon deletion has never been found causative in patients. WGS provides the possibility of prenatal diagnosis in fetuses with BCAs, and its clinical significance also lies in providing data for postnatal diagnosis.
平衡性染色体异常（BCAs）是最常见的染色体异常，患有BCA的新生儿先天性异常的发生率大约是正常新生儿的两倍，但基于BCAs的产前诊断仍有待评估。为了检测易位断点并进行产前诊断，我们对21名在产前筛查中被发现患有BCAs的受试者进行了全基因组测序（WGS），其中19例为平衡性染色体易位，2例为倒位。在16个非N掩码区域（non-NMRs）的BCAs中，WGS检测到13个（81.2%，13/16）BCAs，包括所有倒位。12例（12/14）有足够DNA的病例的所有断点均通过桑格测序得到确认。在13个中断基因中，（病例12）和（病例17）是已知的致病基因，而（基因）首次在患有内脏反位的受试者（病例11）中被发现。超声异常的病例12最终确诊为-疾病，而外显子缺失在患者中从未被发现具有致病性。WGS为患有BCAs的胎儿提供了产前诊断的可能性，其临床意义还在于为产后诊断提供数据。
