猫叫综合征的产前诊断:11例临床分析  

Prenatal diagnosis of Cri-du-chat syndrome: analysis of 11 cases

作　　者：崔玉[1] 刘俊[2] 肖建平[1] 郭彩琴[1] 王峻峰[1] 杨岚[1] 唐叶[1] Cui Yu;Liu Jun;Xiao Jianping;Guo Caiqin;Wang Junfeng;Yang Lan;Tang Ye(Prenatal Diagnostic Center,Wuxi Maternal and Child Health Care Hospital,Wuxi 214000,China;Department of Ultrasonography,Wuxi Maternal and Child Health Care Hospital,Wuxi 214000,China)

机构地区：[1]无锡市妇幼保健院产前诊断中心,无锡214000 [2]无锡市妇幼保健院超声科,无锡214000

出　　处：《中华围产医学杂志》2022年第3期205-210,共6页Chinese Journal of Perinatal Medicine

摘　　要：目的探讨猫叫综合征(Cri-du-chat syndrome, CDCS)的胎儿期超声和遗传学特点。方法回顾性分析2004年至2021年间在无锡市妇幼保健院确诊、资料完整的11例CDCS病例。收集并分析纳入病例的孕期血清学筛查、无创产前检测(non-invasive prenatal testing, NIPT)、产前超声结果和遗传学检查结果及妊娠结局。对数据资料采用描述性统计方法进行分析。结果 11例中, 7例为产前诊断, 4例为生后诊断。7例行血清学筛查者中5例异常, 其中2例NIPT提示5p-。11例中的8例产前超声表现小脑横径小于-2SD, 其中4例为小脑发育不良(cerebellar hypoplasia, CH), 2例为胎儿生长受限, 2例头颅各径线和小脑横径均小于-2SD;1例颈项透明层增厚伴双侧侧脑室脉络丛囊肿、永存左上腔静脉可能;2例未见明显异常。4例患儿经外周血染色体核型分析确诊。7例胎儿经羊水染色体核型分析确诊, 其中6例胎儿进一步行单核苷酸多态性微阵列(single nucleotide polymorphism array, SNP array), 亲本验证均为新生变异, 1例拒绝亲本验证。细胞水平分析发现断裂点位于5p13、5p14和5p15者分别为5、3和3例。产前诊断的7例病例均在孕中期引产。生后诊断的4例患儿随访至3周岁, 表型均符合CDCS。结论当产前超声发现胎儿CH时, 要考虑CDCS的可能, 但CH与CDCS的相关性需进一步研究。SNP array的基因定位有助于表型谱的分析及遗传咨询。Objective:To investigate the ultrasonographic and genetic features of Cri-du-chat syndrome(CDCS).Methods:In this retrospective study,cases with CDCS diagnosed in Wuxi Maternal and Child Health Care Hospital from 2004 to 2021 and with complete data were reviewed to describe and analyze the maternal serum prenatal screening,non-invasive prenatal testing(NIPT),ultrasound,genetic examination data,and pregnancy outcomes.Results:All cases were diagnosed by karyotype analysis,seven of them were diagnosed prenatally through amniotic fluid,and four were diagnosed after birth through peripheral blood.Five of the seven cases diagnosed prenatally had an abnormal serological screening,including two cases with 5p-indicated by NIPT.Of the 11 cases,prenatal ultrasonography showed cerebellar transverse diameter less than-2 SD in eight cases,including four with cerebellar hypoplasia(CH),two with fetal growth restriction,and two with cranial diameters less than-2 SD.One case was shown with an increased nuchal translucency,accompanying bilateral choroid plexus cysts of the lateral ventricles,and suspected persistent left superior vena cava.No obvious ultrasound abnormality was observed in the remaining two cases.Among the seven cases diagnosed prenatally,excluding one case that refused parental verification,further single nucleotide polymorphism array(SNP array)showed that all six cases inherited the de novo mutations from the parents.The cytogenetic analysis found the breakpoints at 5p13,5p14,and 5p15 in five,three,and three cases.All seven pregnancies were terminated in the second trimester.Four children diagnosed postnatally presented with CDCS phenotype during the follow-up at three years old.Conclusions:Fetal CDCS should be considered with CH detected by prenatal ultrasonography,though the correlation between CH and CDCS still needs further investigation.Gene mapping with an SNP array is helpful for phenotypic profiling and genetic counseling.

关 键 词：猫叫综合征 超声检查 产前 小脑 发育障碍 多态性 单核苷酸 微阵列分析 

分 类 号：R714.5[医药卫生—妇产科学]