2q13微缺失胎儿超声表现及出生后随访结果  

Intrauterine ultrasound manifestations and postnatal follow-up analysis of fetuses with 2q13 microdeletion

作　　者：何淑凤 崔玉[1] 杨岚[1] 刘俊[2] 赵丽[1] 赵馨[1] 邱婷[3] 施楠 He Shufeng;Cui Yu;Yang Lan;Liu Jun;Zhao Li;Zhao Xin;Qiu Ting;Shi Nan(Department of Medical Genetics and Prenatal Diagnostic,Wuxi Maternity and Child Health Care Hospital,Wuxi 214000,China;Department of Diagnostic Ultrasonography,Wuxi Maternity and Child Health Care Hospital,Wuxi 214000,China;Children and Health Care,Wuxi Maternity and Child Health Care Hospital,Wuxi 214000,China)

机构地区：[1]无锡市妇幼保健院医学遗传与产前诊断科,无锡214000 [2]无锡市妇幼保健院超声诊断科,无锡214000 [3]无锡市妇幼保健院儿保科,无锡214000

出　　处：《中华围产医学杂志》2024年第5期387-393,共7页Chinese Journal of Perinatal Medicine

基　　金：无锡市医学创新团队项目(围产医学)(CXTD2021016)。

摘　　要：目的分析2q13微缺失胎儿超声表现及生后随访结果。方法回顾性选择2018年1月1日至2022年9月1日在无锡市妇幼保健院通过羊膜腔穿刺行羊水染色体核型及单核苷酸多态性微阵列(single nucleotide polymorphism-array,SNP-array)分析确诊的23例2q13微缺失胎儿。采用描述性统计分析这些胎儿的产前诊断指征、宫内超声表现、产前诊断结果及生后随访结果。结果(1)23例2q13微缺失病例产前诊断指征分别为7例(30.4%)血清学筛查高风险,6例(26.1%)胎儿颈项透明层(nuchal translucency,NT)增厚,2例(8.7%)胎儿心脏畸形,2例(8.7%)孕母高龄,2例(8.7%)胎儿脉络丛囊肿(其中1例同时合并血清学筛查高风险),1例(4.3%)胎儿鼻骨部分融合欠佳,1例(4.3%)无创产前检测提示性染色体异常,1例(4.3%)胎儿梗阻性多囊肾,1例(4.3%)胎儿室管膜下囊肿,1例(4.3%)胎儿生长受限。(2)胎儿宫内超声表现:6例(26.1%)NT增厚,4例(17.4%)胎儿生长受限,2例(8.7%)心脏畸形,2例(8.7%)脉络丛囊肿,1例(4.3%)羊水过少,1例(4.3%)鼻骨部分融合欠佳,1例(4.3%)长骨偏短,1例(4.3%)羊水多伴腹围大,1例(4.3%)腹围大、长骨短、脑室室管膜下囊肿,1例(4.3%)梗阻性多囊肾;余6例(26.1%)未见异常超声表现。(3)产前诊断结果及溯源:3例染色体结构异常,1例性染色体数目异常,余19例未见异常。羊水SNP-array结果提示缺失范围为104~1745 kb。10例行亲本验证,证实4例遗传自母亲,5例遗传自父亲,1例新发变异。(4)妊娠结局及随访:4例(17.4%)引产终止妊娠,19例(82.6%)活产分娩。19例活产儿均进行电话及儿童保健随访,中位随访年龄为3岁(9~58.8月龄),除2例出生后未行新生儿先天性心脏病筛查,余17例存活新生儿均进行筛查且未见异常。5例随访发现生长发育异常:1例1岁6月龄轻度语言发育迟缓,1例3岁26日龄轻度语言发育迟缓,1例1岁6月龄语言发育迟缓,1例3岁散光,1例2岁6月龄双眼屈光不正;余14例婴幼�Objective To analyze the intrauterine ultrasound manifestations and postnatal follow-up outcomes of fetuses with 2q13 microdeletion.Methods This retrospective study involved 23 cases of 2q13 microdeletion,diagnosed via amniotic fluid chromosome karyotyping and single nucleotide polymorphism-array(SNP-array)following amniocentesis,between January 1,2018,and September 1,2022,at Wuxi Maternity and Child Health Care Hospital.Descriptive statistical analysis was applied to prenatal diagnostic indications,intrauterine ultrasound findings,prenatal diagnosis results,and postnatal follow-up outcomes.Results(1)The prenatal diagnostic indications for the 23 cases of 2q13 microdeletion included seven cases(30.4%)of high-risk serological screening,six cases(26.1%)of increased nuchal translucency(NT),two cases(8.7%)of fetal heart defects,two cases(8.7%)of advanced maternal age,two cases(8.7%)of fetal choroid plexus cysts(one of which was also associated with high-risk serological screening),one case(4.3%)of suboptimal fetal nasal bone fusion,one case(4.3%)of non-invasive prenatal testing suggesting chromosomal abnormalities,one case(4.3%)of fetal obstructive polycystic kidneys,one case(4.3%)of fetal subependymal cysts,and one case(4.3%)of fetal growth restriction.(2)Intrauterine ultrasound findings included six cases(26.1%)of NT thickening,four cases(17.4%)of intrauterine growth restriction,two cases(8.7%)of fetal heart defects,two cases(8.7%)of choroid plexus cysts,one case(4.3%)of oligohydramnios,one case(4.3%)of suboptimal fetal nasal bone fusion,one case(4.3%)of short long bones in the fetus,one case(4.3%)of polyhydramnios with large fetal abdominal circumference,one case(4.3%)of large fetal abdominal circumference,short long bones,and subependymal cysts of the brain ventricles,and one case(4.3%)of fetal obstructive polycystic kidneys;the remaining six cases(26.1%)showed no abnormal ultrasound findings.(3)Chromosome karyotyping revealed three cases of chromosomal structural abnormalities,one case of sex chromosome numerica

关 键 词：2q13微缺失 超声检查 产前 产前诊断 单核苷酸多态性微阵列 随访研究 

分 类 号：R714.5[医药卫生—妇产科学]