198例颈部透明层增厚胎儿的染色体核型分析  

Karyotype analysis of 198 fetuses with increased nuchal translucency

作　　者：郑文婷[1] 尹志军[1] 梁映亮[1] 陈慧[1] 陈渊博[1] 

机构地区：[1]南方医科大学附属小榄医院检验科,广东中山528415

出　　处：《中国优生与遗传杂志》2017年第2期54-55,83,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨早孕期胎儿颈部透明层(nuchal translucency,NT)增厚在筛查胎儿染色体非整倍体数目异常中的临床价值。方法对198例早孕期超声检查发现胎儿NT增厚的孕妇行绒毛或羊水核型分析,比较单纯性NT增厚胎儿的染色体异常检出率与NT增厚合并其他超声异常胎儿的染色体异常检出率的差别。结果 NT增厚的胎儿染色体异常检出率为27.3%(54/198),以21三体和18三体为主。单纯性NT增厚的胎儿染色体异常检出率为16.7%(25/150);NT增厚合并其他超声异常的胎儿染色体异常检出率为60.4%(29/48),明显高于单纯性NT增厚的胎儿(χ~2=35.091,P<0.05)。结论 NT增厚对筛查胎儿染色体非整倍体数目异常具有重要的临床价值,尤其是当NT增厚合并全身皮肤水肿、心脏畸形、鼻骨缺失、颈部淋巴水囊瘤、静脉导管a波倒置、胎儿宫内发育迟缓等一项或多项超声异常时,胎儿染色体异常检出率大大提高。Objective：To discuss the clinical value of ultrasonic detection of fetal increased nuchal translucency（NT）in screening fetal chromosomal aneuploidy numerical abnormality during the first trimester. Methods：198 fetuses with increased NT detected by ultrasound during the first trimester were performed karyotype analysis using villi or amniotic fluid samples. The detection rate of fetal chromosomal abnormalities between fetuses with simple increased NT and fetuses with increased NT and other ultrasonic abnormalities were compared. Results：The detection rate of chromosomal abnormalities of fetuses with increased NT was 27.3%（54/198）,the main abnormal karyotypes were trisomy 21 and trisomy 18. The detection rate of chromosomal abnormalities of fetuses with simple increased NT was 16.7%（25/150）,that of fetuses with increased NT and other ultrasound abnormalities was 60.4%（29/48）. The detection rate of chromosomal abnormalities of fetuses with increased NT and other ultrasound abnormalities was apparently higher than that of fetuses with simple increased NT（χ^2=35.091,P〈0.05）. Conclusions：Increased NT has important clinical value in screening fetal chromosomal aneuploidy numerical abnormality. The detection rate of chromosomal abnormalities of fetuses can be greatly improved when the fetuses have increased NT and one or more other ultrasound abnormalities,such as the whole body skin edema,cardiac abnormalities,absence of nasal bone,neck lymphatic hygroma,a wave inversion of venous catheter and fetal growth restriction.

关 键 词：颈部透明层 增厚 核型分析 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]