中国产前诊断杂志（电子版）
中國產前診斷雜誌（電子版）
중국산전진단잡지（전자판）
CHINESE JOURNAL OF PRENATAL DIAGNOSIS(ELECTRONIC VERSION)
2014年
1期
22-26
,共5页
胎儿心脏畸形%唐氏筛查%高风险
胎兒心髒畸形%唐氏篩查%高風險
태인심장기형%당씨사사%고풍험
congenital heart disease%Down syndrome screening%high risk
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。
目的：探討胎兒心髒畸形與唐氏篩查風險值之間的關繫。方法以本院2011年1月至2012年12月行產前超聲診斷髮現胎兒有心髒畸形的250例胎兒作為病例組，隨機抽取同期250例無任何畸形的胎兒作為對照組，在本院遺傳科產前篩查數據庫分彆查找齣此500例胎兒的唐氏篩查21三體風險值，按風險值分組為高風險（≥1/270）、中風險（＜1/270，≥1/1000）和低風險（＜1/1000）3組，分彆比較不同組其唐氏風險分佈不同的意義。結果高風險的分佈在正常胎兒組與閤併其他繫統畸形的 CHD胎兒組之間（χ2＝20．41，P＜0．0167）、單純CHD胎兒組與閤併其他繫統畸形的CHD胎兒組之間（χ2＝15．34，P＜0．0167）分佈不同是有意義的，在閤併其他繫統畸形的CHD胎兒組比例高；中風險在正常胎兒組與閤併其他繫統畸形的CHD胎兒組之間（χ2＝6．76，P＜0．0167）的分佈不同是有意義的，在後者中比例高。結論①閤併多繫統畸形的胎兒唐氏篩查高風險比率高；②唐氏高風險胎兒在排除染色體異常後仍需實施超聲繫統篩查以排除胎兒先天性髮育異常；③單純性先天性心髒病唐氏高風險率與正常胎兒無差異，提示可能與唐氏高風險無關。
목적：탐토태인심장기형여당씨사사풍험치지간적관계。방법이본원2011년1월지2012년12월행산전초성진단발현태인유심장기형적250례태인작위병례조，수궤추취동기250례무임하기형적태인작위대조조，재본원유전과산전사사수거고분별사조출차500례태인적당씨사사21삼체풍험치，안풍험치분조위고풍험（≥1/270）、중풍험（＜1/270，≥1/1000）화저풍험（＜1/1000）3조，분별비교불동조기당씨풍험분포불동적의의。결과고풍험적분포재정상태인조여합병기타계통기형적 CHD태인조지간（χ2＝20．41，P＜0．0167）、단순CHD태인조여합병기타계통기형적CHD태인조지간（χ2＝15．34，P＜0．0167）분포불동시유의의적，재합병기타계통기형적CHD태인조비례고；중풍험재정상태인조여합병기타계통기형적CHD태인조지간（χ2＝6．76，P＜0．0167）적분포불동시유의의적，재후자중비례고。결론①합병다계통기형적태인당씨사사고풍험비솔고；②당씨고풍험태인재배제염색체이상후잉수실시초성계통사사이배제태인선천성발육이상；③단순성선천성심장병당씨고풍험솔여정상태인무차이，제시가능여당씨고풍험무관。
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 divid-ed 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 fe-tus and CHD with multiple system malformation fetus(χ2= 15.34,P<0.0167)are significant.The pro-portion of CHD with multiple system malformation fetus’high value-at-risk are higher.The different dis-tribution 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 Con-genital Heart Disease and high value-at-risk of Down syndrome screening.
