Shen Huaxiang, Li Suping, Jin Yuxia
Jiaxing Maternal and Child Health Care Hospital, Jiaxing College, Jiaxing, Zhejiang 314050,China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Dec 10;37(12):1387-1390. doi: 10.3760/cma.j.cn511374-20200303-00123.
To carry out prenatal diagnose for a fetus with ultrasonography abnormalities using multiple genetic techniques.
Routine G-banding chromosomal analysis and single nucleotide polymorphism array (SNP-array) were applied in conjunction for the prenatal diagnosis of the fetus. The result was confirmed by fluorescence in situ hybridization (FISH).
SNP-array detected that the fetus has carried a hemizygous 5.1 Mb deletion at 22q13.31q13.33, which is associated with Phelan-McDermid syndrome, and a hemizygous 4.5 Mb deletion at 21q21.1q21.2. FISH analysis of the fetus and its parents suggested that both deletions were de novo in origin.
The hemizygous deletions on 21q21.1q21.2 and 22q13.31q13.33 probably underlay the abnormal phenotype of the fetus. Genetic analysis can provide crucial information for the prenatal diagnosis and genetic counseling.
运用多种基因技术对一名超声检查异常的胎儿进行产前诊断。
联合应用常规G显带染色体分析和单核苷酸多态性芯片（SNP芯片）对该胎儿进行产前诊断。结果通过荧光原位杂交（FISH）得以证实。
SNP芯片检测发现该胎儿在22q13.31q13.33区域存在一个5.1 Mb的半合子缺失，这与费兰 - 麦克德米德综合征相关，同时在21q21.1q21.2区域存在一个4.5 Mb的半合子缺失。对胎儿及其父母进行的FISH分析表明，这两个缺失均为新发突变。
21q21.1q21.2和22q13.31q13.33区域的半合子缺失可能是胎儿异常表型的原因。基因分析可为产前诊断和遗传咨询提供关键信息。
