Wolf-Hirschhorn综合征胎儿的产前诊断及家系分析  

Prenatal diagnosis and family analysis of Wolf-Hirschhorn syndrome

作　　者：蔡美娇 张剑[1] 陈佳燕 葛运生 CAI Meijiao;ZHANG Jian;CHEN Jiayan;GE Yunsheng(Women and Children's Hospital Affiliated to Xiamen University,Central Laboratory of Xiamen Maternal and Child Health Care Hospital,Xiamen,Fujian 361003,China)

机构地区：[1]厦门大学附属妇女儿童医院/厦门市妇幼保健院中心实验室,福建厦门361003

出　　处：《中国优生与遗传杂志》2021年第12期1710-1712,共3页Chinese Journal of Birth Health & Heredity

基　　金：医疗卫生科技项目(3502Z20194070)。

摘　　要：目的对产前Wolf-Hirschhorn综合征(WHS)胎儿及家系进行细胞分子遗传学诊断,为产前遗传咨询提供依据。方法对G显带染色体核型分析和单核苷酸微阵列芯片(SNP-array)发现的4例WHS胎儿的产前诊断指征、超声影像表现、亲代验证以及妊娠结局进行回顾,并结合文献资料综合分析。结果在9437例介入性产前诊断的胎儿中共诊断出4例WHS,经父母遗传分析发现均为新发变异,其中3例(1、2和4号胎儿)核型最终确定为46,XN,del(4)(p16.1)dn,另1例(3号胎儿)核型最终确定为46,XN,del(4)(p15.2)dn,SNP-array进一步明确了缺失的区域和大小。产前超声显示其中3例胎儿孕中/晚期异常,包括胎儿生长受限(FGR)2例、肾发育异常2例、鼻骨发育异常3例等。经遗传咨询和知情同意后,其均选择终止妊娠。结论联合应用核型分析和SNP-array技术,有助于提高对产前WHS胎儿诊断准确性,并明确缺失的类型及来源,有助于有效的产前诊断和遗传咨询。除胎儿生长受限外,肾发育异常和鼻骨发育异常可能也是WHS早期表现之一。Objective To provide evidence for prenatal genetic, cytogenetic and molecular genetic test were performed on fetuses and their parents with Wolf-Hirschhorn syndrome. Methods We summarized and analyzed the prenatal diagnostic indications, ultrasound findings, and pregnancy outcomes of four WHS fetuses detected by conventional G-band karyotype analysis and single nucleotide array(SNP-array) based on the literature. Results Four cases of WHS fetuses were diagnosed from 9437 prenatal diagnosis cases. After parental genetic analysis, the karyotype of three of the four fetuses were identified as 46,XN,del(4)(p16.1)dn(fetus 1, 2 and 4), and the other was 46,XN,del(4)(p15.2)dn(fetus 3). SNP-array further identified the deletion area and size. Three of them were abnormal in prenatal sonographic screening in the second/third trimester of pregnancy, including 2 cases of fetal growth restriction(FGR), 2 cases of renal dysplasia, 3 cases of nasal bone dysplasia and so on. After genetic counseling and informed consent, these four pregnant women decided to terminate the pregnancy. Conclusion In prenatal diagnosis, the combined application of karyotype analysis and SNP-array is helpful to identify the type and source of WHS, which can provide useful information for genetic counseling and risk assessment of recurrence.In addition to fetal growth restriction, renal and nasal bone dysplasia may also be early manifestations of WHS.

关 键 词：Wolf-Hirschhorn综合征 核型分析 单核苷酸微阵列芯片 

分 类 号：R714.5[医药卫生—妇产科学]