120例胎儿发育异常的染色体异常情况分析

目的：探讨胎儿发育异常与染色体异常的关系。方法采用彩色多普勒对孕12～40周行胎儿超声系统检查，对其中120例产前超声诊断胎儿发育异常，并在广东省清远市人民医院引产的胎儿进行羊水或脐带血染色体检查，并经分娩后随访证实的资料进行回顾性分析。结果染色体数目及结构异常20例，以21-三体、18-三体、45，XO、新发生易位、环状及嵌合体染色体异常多见，总检出率为16．7％（20/120）；其中17例为多发畸形，3例为单发畸形，多发畸形的染色体异常率高于单发畸形，两者差异具有统计学意义（χ^2＝15．15，P＜0．05）；另有5例多态性，其余95例未见异常。结论胎儿发育异常时，染色体异常的机率较高；多发畸形时，染色体异常的机率更高；而特定的单发畸形，其染色体异常的机率也较高。

Correlation analysis of fetal maldevelopmemt and chromosomal abnormalities in 120 cases

Objective To investigate the relationship between fetal maldevelopment and chromosomal abnormalities .Methods Color Doppler imaging was done on fetus of 12-40 gestational weeks .Amniocentesis or percutaneous umbilical blood sampling were performed on 120 cases diagnosed with fetal abnormalities and delivered in Qingyuan People ’ s Hospital in Guangdong Province .They were confirmed by follow-up.The data of them were retrospectively analyzed .Results Totally 20 cases were found with chromosomal abnormalities , and the major abnormalities were trisomies 21, trisomies 18, 45,XO, new translocation, ring chromosome abnormality and chimeric chromosomal abnormality.The total detection rate was 16.7% （20/120）.There were 17 cases of multiple malformations and 3 cases of single malformation.The chromosomal abnormality rate of multiple malformations was higher than that of single malformation , and the difference was significant （χ^2 =15.15, P〈0.05）.There were 5 cases of polymorphism, and the rest 95 were normal.Conclusion When fetal abnormalities occur , the probability of chromosomal abnormalities is relatively high .When multiple malformations occur , the probability of chromosomal abnormalities is higher .The probability of chromosomal abnormalities is high when specific single malformation is found .