Duan Hong-Lei, Zhu Xiang-Yu, Zhu Yu-Jie, Wu Xing, Zhao Guang-Feng, Wang Wan-Jun, Li Jie
Department of Obstetrics and Gynecology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, China.
Department of Obstetrics and Gynecology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, China.
Taiwan J Obstet Gynecol. 2019 Mar;58(2):251-254. doi: 10.1016/j.tjog.2019.01.015.
To investigate the clinical value of chromosomal microarray analysis (CMA) in the prenatal diagnosis of genetic abnormalities in fetal isolated mild ventriculomegaly.
This retrospective study reviewed 101 fetuses with isolated mild ventriculomegaly who had undergone invasive prenatal diagnosis at our hospital. CMA was performed in all cases to detect chromosomal aneuploidy as well as copy number variations (CNVs) that are too small to be detected by conventional karyotyping. Real time quantitative PCR (qPCR) or multiplex ligation dependent probe amplification (MLPA) was used to confirm all fetal CNVs <400 Kb.
Except for three cases of chromosomal aneuploidy, CMA revealed pathogenic copy number variations (CNVs) in 3.0% (3/101) of the fetuses; these cases demonstrated involvement in the chromosomal regions 15q11.2, 1q21.1 and Xq27.3q28. Furthermore, we detected three likely pathogenic (3.0%) and two variants of uncertain significance (2.0%) among 101 fetuses diagnosed as isolated mild ventriculomegaly on ultrasound examination.
Our study suggests that CNVs could aid in the risk assessment and genetic counseling in fetuses with isolated ventriculomegaly.
探讨染色体微阵列分析（CMA）在胎儿孤立性轻度脑室扩大遗传异常产前诊断中的临床价值。
本回顾性研究对我院101例接受侵入性产前诊断的孤立性轻度脑室扩大胎儿进行了分析。所有病例均进行CMA检测染色体非整倍体以及传统核型分析无法检测到的拷贝数变异（CNV）。采用实时定量PCR（qPCR）或多重连接依赖探针扩增（MLPA）对所有<400 Kb的胎儿CNV进行确认。
除3例染色体非整倍体外，CMA在3.0%（3/101）的胎儿中发现了致病性拷贝数变异（CNV）；这些病例显示涉及染色体区域15q11.2、1q21.1和Xq27.3q28。此外，在101例超声检查诊断为孤立性轻度脑室扩大的胎儿中，我们检测到3例可能致病（3.0%）和2例意义不明确的变异（2.0%）。
我们的研究表明，CNV有助于孤立性脑室扩大胎儿的风险评估和遗传咨询。
