回顾性分析产前诊断胎儿Apert综合征2例及孕母再生育情况追踪  

Retrospective analysis of 2 cases of prenatal diagnosis of fetal Apert syndrome and follow-up of the next birth

作　　者：张闻 王敏 卢莎 张艳珍 ZHANG Wen;WANG Min;LU Sha;ZHANG Yanzhen(Hangzhou Women’s Hospital,Hangzhou,Zhejiang 310008,China)

机构地区：[1]杭州市妇产科医院,浙江杭州310008

出　　处：《中国优生与遗传杂志》2023年第7期1449-1453,共5页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析2例Apert综合征胎儿的产前超声表现、产前诊断方法,并对孕母的再生育情况进行追踪。方法回顾性总结分析2例产前超声筛查异常,临床高度怀疑胎儿Apert综合征的孕妇,其中一例进行MRI检查,取得其羊水或脐血标本进行染色体核型分析、全基因组单核苷酸多态性微阵列(SNP-array)芯片检测及全外显子组测序,并对其孕母再生育的情况进行追踪了解。结果2例胎儿检查结果均提示头颅及手指形态异常,羊水或脐血染色体核型分析结果分析及SNP-array检测的结果均未提示明显异常;全外显子组基因测序均提示FGFR2 c.755C>G新发杂合错异变异,为致病性变异,诊断为Apert综合征并实施引产,其孕母后续均再生育一健康婴儿。结论产前超声发现胎儿头颅形态异常合并手(趾)形态异常是提示Apert综合征的重要线索,全外显子组测序是诊断Apert综合征的有效方法,对下一胎的生育可能没有影响。Objective To investigate the prenatal ultrasound findings,prenatal diagnosis of 2 fetuses with Apert syndrome,and follow-up of the next birth.Methods Two fetuses with prenatal ultrasound abnormalities,one of them also underwent MRI examination,were sampled from amniotic fluid or cord blood for karyotype analysis,single nucleotide polymorphism microarray(SNP array)and prenatal whole exome sequencing(WES).We also followed up on the situation of mothers’next birth.Results Two case showed abnormal morphology of the head and fingers by ultrasonography.The karyotype and SNP array of amniotic fluid of two cases were normal.The WES results of both indicated that FGFR2 c.755C>G is a new pathogenic mutation.Both fetuses were diagnosed with Apert syndrome and their pregnancy was terminated.Their mothers subsequently gave birth to another healthy baby.Conclusion Prenatal ultrasound findings of abnormal morphology of the head and fingers were important clues to indicate Apert syndrome,and WES is an effective method to diagnose Apert syndrome.However,it may not affect the fertility of the next child.

关 键 词：APERT综合征 FGFR2 基因突变 再生育 

分 类 号：R714.5[医药卫生—妇产科学]