27例胎儿15q11.2 BP1-BP2微缺失综合征孕妇的产前诊断及胎儿生后随访结果  

Prenatal diagnosis and postnatal follow-up of 27 cases with 15q11.2 BP1-BP2 microdeletion syndrome

作　　者：崔玉[1] 肖建平[1] 杨岚[1] 孙敏雅[1] 赵丽[1] 郭彩琴[1] 赵馨[1] 章恒[2] Yu Cui;Jianping Xiao;Lan Yang;Minya Sun;Li Zhao;Caiqin Guo;Xin Zhao;Heng Zhang(Prenatal Diagnostic Center,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]无锡市妇幼保健院产前诊断中心,无锡214000 [2]无锡市妇幼保健院儿保科,无锡214000

出　　处：《中华围产医学杂志》2022年第4期271-277,共7页Chinese Journal of Perinatal Medicine

基　　金：无锡市科技发展资金(WX18IIAN028)。

摘　　要：目的总结15q11.2 BP1-BP2微缺失综合征(Burnside-Butler syndrome, BBS)的产前诊断及生后随访结果, 以指导BBS的产前诊断及生后随访工作。方法回顾性纳入2017年1月至2021年9月在无锡市妇幼保健院通过羊膜腔穿刺羊水单核苷酸多态性微阵列(single nucleotide polymorphism array, SNP array)分析确诊胎儿BBS的单胎妊娠孕妇27例。总结其产前诊断指征、血清学筛查结果、产前胎儿超声特点、SNP array结果及胎儿出生后的生长发育情况。采用描述性统计分析。结果 (1)27例的产前诊断指征主要是产前超声异常14例(颈项透明层增厚8例, 唇裂伴腭裂/牙槽突裂2例, 胎儿多关节挛缩综合征、胎儿右侧膈疝+单脐动脉、胎儿十二指肠闭锁可能和鼻骨缺失各1例), 血清学筛查唐氏综合征高风险6例, 既往不良孕产史6例, 高龄1例。(2)27例BBS胎儿的羊水染色体核型分析均未见异常, 羊水SNP array结果提示缺失范围为311.8~855.3 kb。23例病例行亲本验证, 证实新发变异1例, 遗传自父亲7例, 遗传自母亲15例。(3)妊娠结局:5例中孕期引产终止妊娠, 余22例活产分娩。(4)子代情况:22例活产新生儿随访至中位年龄1岁8个月(0.5个月~4岁3个月):低体重和/或生长迟缓6例, 低体重合并语言发育迟缓、低体重且生长迟缓合并多动行为、语言发育迟缓合并左耳附耳各1例, 2例分别因腭裂伴十二指肠闭锁和唇裂伴牙槽突裂+腭裂外科手术治疗后发育未见明显异常;余11例生长发育未见明显异常。结论 BBS胎儿超声检出异常的比例较高, 但特异性较低;生后生长发育/行为问题的潜在风险较高, 需要持续的生长发育监测。Objective:To summarize the prenatal diagnosis and postnatal follow-up of 15q11.2 BP1-BP2 microdeletion syndrome(Burnside-Butler syndrome,BBS),and provide a reference for the management of BBS.Methods:A retrospective analysis was performed on 27 singleton pregnancies with fetal BBS that were prenatally diagnosed by single nucleotide polymorphism(SNP)array of amniotic fluid in Wuxi Maternity and Child Health Care Hospital from January 2017 to September 2021.Prenatal diagnosis indications,serological screening,prenatal ultrasound features,SNP array results,and postnatal growth and development were described and summarized.Results:(1)Of the 27 cases,the indications of prenatal diagnosis in 14 cases were abnormal sonographic findings,including eight cases with increased nuchal translucency,two with cleft lip and palate/alveolar process cleft,one with fetal multiple joint contracture syndrome,one with fetal right diaphragmatic hernia and single umbilical artery,one with suspected fetal duodenal atresia and one with nasal bone absence.Other indications included high risk of Down syndrome by serological screening in six cases,history of adverse pregnancy in six cases,and advanced age in one case.(2)Karyotyping of amniotic fluid in these 27 BBS fetuses showed normal results and SNP array indicated the deletion range of 311.8-855.3 kb.Parental verification of 23 cases confirmed one was a new mutation,seven were inherited from the father and 15 from the mother.(3)Five pregnancies were terminated in the second trimester and the remaining 22 cases were live births.(4)The median follow-up of the 22 children was 1 year 8 months(range 0.5 months to 4 years 3 months),which found low body weight and/or growth retardation in six cases,low body weight with language retardation in one case,low body weight with growth retardation and hyperactive behavior in one case,language retardation with left ear appendage in one case,cleft palate accompanied by duodenum/cleft lip and alveolar cleft in two cases without abnormal development after

关 键 词：染色体 人 15对 染色体畸变 智力障碍 产前诊断 生长和发育 随访研究 

分 类 号：R714.5[医药卫生—妇产科学]