胎儿心脏畸形与唐氏筛查风险值关系的探讨 [中文引用][英文引用]

目的 探讨胎儿心脏畸形与唐氏筛查风险值之间的关系。方法 以本院2011年1月至2012年12月行产前超声诊断发现胎儿有心脏畸形的250例胎儿作为病例组，随机抽取同期250例无任何畸形的胎儿作为对照组，在本院遗传科产前筛查数据库分别查找出此500例胎儿的唐氏筛查21三体风险值，按风险值分组为高风险（≥1/270）、中风险（＜1/270，≥1/1000）和低风险（＜1/1000）3组，分别比较不同组其唐氏风险分布不同的意义。结果 高风险的分布在正常胎儿组与合并其他系统畸形的CHD胎儿组之间（χ²=20.41，P＜0.0167）、单纯CHD胎儿组与合并其他系统畸形的CHD胎儿组之间（χ²=15.34，P＜0.0167）分布不同是有意义的，在合并其他系统畸形的CHD胎儿组比例高；中风险在正常胎儿组与合并其他系统畸形的CHD胎儿组之间（χ²=6.76，P＜0.0167）的分布不同是有意义的，在后者中比例高。结论 ①合并多系统畸形的胎儿唐氏筛查高风险比率高；②唐氏高风险胎儿在排除染色体异常后仍需实施超声系统筛查以排除胎儿先天性发育异常；③单纯性先天性心脏病唐氏高风险率与正常胎儿无差异，提示可能与唐氏高风险无关。

Objective To explore the relationship between fetal Congenital Heart Disease and the value-at-risk of Down syndrome screening. Method Select 250 fetus with Congenital Heart Disease at random as case group, which diagnosed by prenatal ultrasound screening during January 2011 - December 2012 in our hospital , and 250 normal fetus during the same time as control group. Find out the value-at-risk of each fetus’ in the prenatal screening database of Pediatric Genetics of our hospital. Three groups are divided according to the value-at-risk of Down syndrome screening: high risk group (≥1/270), medium risk group (＜1/270,≥1/1000), low risk group (＜1/1000). Compare the different distribution of the value-at-risk in three groups. Results The different distribution of the high value-at-risk between normal fetus and CHD with multiple system malformation fetus（χ²=20.41，P＜0.0167),Congenital Heart Disease fetus and CHD with multiple system malformation fetus（χ²=15.34，P＜0.0167）are significant. The proportion of CHD with multiple system malformation fetus’ high value-at-risk are higher. The different distribution of the medium value-at-risk between normal fetus and CHD with multiple system malformation fetus（χ²=6.76，P＜0.0167）are significant. The proportion of CHD with multiple system malformation fetus’ high value-at-risk are higher. Conclusions ①Fetus with multiple system malformation have high ratio of high value-at-risk of Down syndrome screening . ②Fetus with high value-at-risk of Down syndrome screening should take a systematic ultrasound screening to exclude the congenital dysplasia after exclusion of chromosomal abnormalities. ③The rate of high value-at-risk of Down syndrome screening are similar between normal fetus and Congenital Heart Disease fetus，so there might be no relationship between Congenital Heart Disease and high value-at-risk of Down syndrome screening.