Abstract: Objective To report a case of prenatal genetic diagnosis for severe ventriculomegaly and to review the literatures. Methods The woman was 30-year-old. Fetal severe bilateral ventriculomegaly was found by ultrasound at 32 gestational weeks. The width of the left lateral ventricle was 17 mm and that of right was 19 mm. There were no other abnormity to be found by ultrasound. The previous antenatal examination showed nothing abnormal detected. The cordocentesis was performed and cord blood cells were sampled for karyptyping and single nucleotide polymorphism array (SNP array) analysis. Results The karyotype of the cord blood cells showed no abnormal results. The SNP array demonstrated arr 9q31.3(113,431,222-113,552,613)x3,14q11.2(20,512,609-22,641,623)x1-2, showing a duplication of 121 kb at 9q31.3 and a deletion of 2.129 Mb at 14q11.2 in 28% of the cells. The partial deletion at 14q11.2 was a mosaicism. Interphase fluoresence in situ hybridization (FISH) demonstrated that the deletion at 14q11.2 existed in 13% of the cells, verifying the accuracy of SNP array. After the genetic counseling, the pregnant woman and her family opted to terminate the pregnancy. Induction of labor by rivanol was performed at 34 gestational weeks, and a dead female fetus was delivered. the pregnant woman and her family refused autopsy. Conclusions Genetic diagnosis should be offered to the cases of isolated severe ventriculomegaly detected by ultrasound. SNP array is useful in prenatal diagnosis of de novo alterations of small fragments of the chromosome. FISH is the effective technique to confirm the diagnosis of mosaicism.
戚庆炜 郝娜 刘俊涛 边旭明. 产前遗传学诊断胎儿重度侧脑室增宽1例及文献复习[J]. 发育医学电子杂志, 2016, 4(4): 235-239.
QI Qing-wei, HAO Na, LIU Jun-tao, et al. Prenatal genetic diagnosis of severe ventriculomegaly: a case report and literature review. Journal of Developmental Medicine(Electronic Version), 2016, 4(4): 235-239.
2016, Vol. 4 
