当代医学
噹代醫學
당대의학
CHINA CONTEMPORARY MEDICINE
2013年
29期
26-28
,共3页
翦薇%于滨%陈小兵%潘悦健%陈敦金
翦薇%于濱%陳小兵%潘悅健%陳敦金
전미%우빈%진소병%반열건%진돈금
心内强回声灶%唐氏综合征%软指标%产前超声检查%产前诊断
心內彊迴聲竈%唐氏綜閤徵%軟指標%產前超聲檢查%產前診斷
심내강회성조%당씨종합정%연지표%산전초성검사%산전진단
echogenic intracardiac focus%Down syndrom%soft makers%prenatal sonography%prenatal diagnosis
目的：评价胎儿心内强回声灶的检出是否会增加胎儿唐氏综合征的综合发病风险。方法对2008年1月-2011年12月四年内系统超声检查发现的胎儿心内强回声灶病例进行回顾性分析，根据孕妇的年龄将其分为＜35岁低龄组与≥35岁高龄组；根据强回声灶是否孤立存在分成孤立组与合并存在组。所有胎儿染色体核型均通过实验室检查得到明确诊断，分别计算灵敏度、特异度、阳性似然比，阴性似然比、阳性预测值及阴性预测值。结果心内强回声灶937例，检出率3.2%。高龄组112人中检出21三体4例，阳性似然比为5.6；低龄组825人中检出21三体3例，阳性似然比为0.55；孤立存在组883人中检出21三体4例，阳性似然比为0.69；合并组54人中检出21三体3例，阳性似然比为8.9（P值=0.01）。组间数据差异有统计学意义。结论孤立存在的心内强回声灶作为超声检查的遗传学软指标，不会增加35岁以下孕妇胎儿罹患唐氏综合征的综合风险；高龄孕妇的年龄背景风险已经是胎儿染色体检查的明确指证，心内强回声灶的检出只是进一步增加了胎儿21三体的发病综合风险，从而强调这一部分高龄孕妇进行产前胎儿染色体检查的必要性。
目的：評價胎兒心內彊迴聲竈的檢齣是否會增加胎兒唐氏綜閤徵的綜閤髮病風險。方法對2008年1月-2011年12月四年內繫統超聲檢查髮現的胎兒心內彊迴聲竈病例進行迴顧性分析，根據孕婦的年齡將其分為＜35歲低齡組與≥35歲高齡組；根據彊迴聲竈是否孤立存在分成孤立組與閤併存在組。所有胎兒染色體覈型均通過實驗室檢查得到明確診斷，分彆計算靈敏度、特異度、暘性似然比，陰性似然比、暘性預測值及陰性預測值。結果心內彊迴聲竈937例，檢齣率3.2%。高齡組112人中檢齣21三體4例，暘性似然比為5.6；低齡組825人中檢齣21三體3例，暘性似然比為0.55；孤立存在組883人中檢齣21三體4例，暘性似然比為0.69；閤併組54人中檢齣21三體3例，暘性似然比為8.9（P值=0.01）。組間數據差異有統計學意義。結論孤立存在的心內彊迴聲竈作為超聲檢查的遺傳學軟指標，不會增加35歲以下孕婦胎兒罹患唐氏綜閤徵的綜閤風險；高齡孕婦的年齡揹景風險已經是胎兒染色體檢查的明確指證，心內彊迴聲竈的檢齣隻是進一步增加瞭胎兒21三體的髮病綜閤風險，從而彊調這一部分高齡孕婦進行產前胎兒染色體檢查的必要性。
목적：평개태인심내강회성조적검출시부회증가태인당씨종합정적종합발병풍험。방법대2008년1월-2011년12월사년내계통초성검사발현적태인심내강회성조병례진행회고성분석，근거잉부적년령장기분위＜35세저령조여≥35세고령조；근거강회성조시부고립존재분성고립조여합병존재조。소유태인염색체핵형균통과실험실검사득도명학진단，분별계산령민도、특이도、양성사연비，음성사연비、양성예측치급음성예측치。결과심내강회성조937례，검출솔3.2%。고령조112인중검출21삼체4례，양성사연비위5.6；저령조825인중검출21삼체3례，양성사연비위0.55；고립존재조883인중검출21삼체4례，양성사연비위0.69；합병조54인중검출21삼체3례，양성사연비위8.9（P치=0.01）。조간수거차이유통계학의의。결론고립존재적심내강회성조작위초성검사적유전학연지표，불회증가35세이하잉부태인리환당씨종합정적종합풍험；고령잉부적년령배경풍험이경시태인염색체검사적명학지증，심내강회성조적검출지시진일보증가료태인21삼체적발병종합풍험，종이강조저일부분고령잉부진행산전태인염색체검사적필요성。
Objective To evaluate the impact of an echogenic intracardiac focus on the risk for fetal trisomy 21 in populations with differing prevalence of trisomy 21. Methods A retrospective cohort study of pregnancies to our prenatal ultrasound department who were detected echogenic intracardiac focus over 4 years(2008-2011). All pregnancies were divided into four groups as older than 35 years(≥35 ys) and younger than 35 years(<35 ys);isolated group and combined group. Fetal karyotypes were conifrmed either by prenatal chromosomal analysis or postnatal examination. Results Echogenic intracardiac foci were found in 29090 of 937 pregnancies (3.2%). There were 4 trisomy 21 in pregnancies older than 35 years(positive likelihood ratio[LR+],5.6;negative likelihood ratio[LR-], 0.91);There were 3 trisomy 21 in pregnancies younger than 35 years([LR+],0.55;[LR-], 1.07);4 trisomy 21 were found in pregnancies of isolated group ([LR+],0.69;[LR-], 1.06);3 trisomy 21 were found in pregnancies of combined group([LR+],8.9;[LR-], 0.93);(P<0.05).Conclusion An isolated echogenic intracardiac focus on prenatal sonography does not signiifcantly increase the risk for trisomy 21 in pregnancies younger than 35 years(<35 ys) . For those pregnancies older than 35 years(≥35 ys) , if the echogenic intracardiac focus was found, or pregnancies who were detected not only with echogenic intracardiac focus,but also with other soft makers, the risk for trisomy 21 was signiifcantly increased. We suggested these pregnancies to accept prenatal chromosomal analysis.
