摘要
目的探讨染色体微阵列分析(chromosome microarray analysis,CMA)对颈项透明层(nuchal translucency,NT)增厚胎儿染色体异常的检出效率及胎儿结局.方法回顾性分析2014年7月至2018年2月因胎儿NT增厚行CMA产前诊断的病例247例,按NT增厚(NT大于测量时所在孕周的第95百分位)是否合并其他异常分为4组,A组(168例):单纯NT增厚;B组(20例):NT增厚合并单纯淋巴水囊瘤;C组(12例):NT增厚合并水肿;D组(47例):NT增厚合并其他异常.电话随访胎儿结局.结果染色体异常率31.6%(78/247),其中非整倍体66例,拷贝数变异(copy number variation,CNV)12例.在单纯NT增厚胎儿中,CNV占其总异常的31.4%(11/35),而在非单纯NT增厚胎儿中,CNV仅占其总异常的2.3%(1/43).3例CMA正常胎儿出生后存在发育迟缓等问题,其中2例经全外显子检测诊断为单基因病.结论在单纯NT增厚胎儿中,CMA对染色体亚显微结构异常检出率较高.NT增厚但CMA未见异常的胎儿,不能排除不良结局的可能.
Objective To determine the frequency of chromosomal abnormalities and outcome of pregnancy for fetuses with increased nuchal translucency(NT).Methods Between July 2014 and February 2018,247 fetuses with increased NT(>95th centile)were analyzed by chromosome microarray analysis(CMA).The fetuses were divided into ones with isolated increased NT(168 cases),increased NT with cystic hygroma(20 cases),increased NT with edema(12 cases)or increased NT with other abnormalities(47 cases).All couples were followed up by telephone calls.Results The rate of chromosomal abnormalities was 31.6%(78/247),which included 66 cases with chromosomal aneuploidies and 12 with copy number variants(CNVs).CNVs accounted for 31.4%(11/35)of total abnormalities among fetuses with isolated increased NT,whilst only 2.3%(1/43)of the total abnormalities among fetuses with non-isolated increased NT.Three fetuses with a normal CMA result had mental and physical retardation.Two of them were diagnosed with single gene disorders by whole exome sequencing.Conclusion CMA can detect more chromosomal microdeletion/microduplications among fetuses with isolated increased NT.Furthermore,fetuses with increased NT and anegative CMA result during pregnancy cannot exclude all adverse outcomes.
作者
倪梦瑶
李洁
朱湘玉
朱雨捷
顾雷雷
吴星
杨滢
Ni Mengyao;Li Jie;Zhu Xiangyu;Zhu Yujie;Gu Leilei;Wu Xing;Yang Ying(Department of Obstetrics and Gynecology,Nanjing Drum Tower Hospital,Clinical College of Nanjing Medical University,Nanjing,Jiangsu 210008,China;Prenatal Diagnosis Center,Nanjing Drum Tower Hospital,Nanjing Jiangsu 210008,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第10期970-974,共5页
Chinese Journal of Medical Genetics
基金
江苏省妇幼保健重点学科一产前诊断学(FXK201747)
江苏省青年医学人才(QNRC2016030).
关键词
颈项透明层
染色体微阵列分析
产前诊断
拷贝数异常
Nuchal translucency
Chromosomal microarray analysis
Prenatal diagnosis
Copy number variant
