医药前沿
醫藥前沿
의약전연
YIAYAO QIANYAN
2014年
20期
29-30
,共2页
王海燕%陈熙%周莉君%刘云
王海燕%陳熙%週莉君%劉雲
왕해연%진희%주리군%류운
唐氏筛查%染色体病%产前诊断%唐氏综合征
唐氏篩查%染色體病%產前診斷%唐氏綜閤徵
당씨사사%염색체병%산전진단%당씨종합정
Down’s%Syndrome%Screening%Chromosome%Disease%Prenatal%Diagnosis
目的:探讨孕妇孕中期进行唐氏筛查的临床应用价值。方法使用全自动时间荧光免疫分辨仪对3236例孕中期(14~20+6周)妇女进行血清标记物血清甲胎蛋白(AFP)、游离雌三醇(uE3)和绒毛膜促性腺激素Free-β-亚基(Free-β-HCG)三项指标进行检测,使用软件计算风险值,对高风险和单项值异常的孕妇进行B超和羊水染色体检查。结果:其中唐氏筛查高风险和单项值异常的孕妇共980例,通过B超和羊水检查,或出生后确诊胎儿患唐氏综合征或各类染色体疾病的共有14例,占1.4%。筛查结果为低风险的孕妇共2256例,通过B超或出生后诊断胎儿患先天性疾病的有8例,占0.4%。结论:对孕中期的孕妇进行唐氏筛查不仅检查出唐氏综合征胎儿,还可以筛查出患有其他染色体疾病或神经管缺陷的胎儿,对降低出生缺陷发生率具有重要的意义。
目的:探討孕婦孕中期進行唐氏篩查的臨床應用價值。方法使用全自動時間熒光免疫分辨儀對3236例孕中期(14~20+6週)婦女進行血清標記物血清甲胎蛋白(AFP)、遊離雌三醇(uE3)和絨毛膜促性腺激素Free-β-亞基(Free-β-HCG)三項指標進行檢測,使用軟件計算風險值,對高風險和單項值異常的孕婦進行B超和羊水染色體檢查。結果:其中唐氏篩查高風險和單項值異常的孕婦共980例,通過B超和羊水檢查,或齣生後確診胎兒患唐氏綜閤徵或各類染色體疾病的共有14例,佔1.4%。篩查結果為低風險的孕婦共2256例,通過B超或齣生後診斷胎兒患先天性疾病的有8例,佔0.4%。結論:對孕中期的孕婦進行唐氏篩查不僅檢查齣唐氏綜閤徵胎兒,還可以篩查齣患有其他染色體疾病或神經管缺陷的胎兒,對降低齣生缺陷髮生率具有重要的意義。
목적:탐토잉부잉중기진행당씨사사적림상응용개치。방법사용전자동시간형광면역분변의대3236례잉중기(14~20+6주)부녀진행혈청표기물혈청갑태단백(AFP)、유리자삼순(uE3)화융모막촉성선격소Free-β-아기(Free-β-HCG)삼항지표진행검측,사용연건계산풍험치,대고풍험화단항치이상적잉부진행B초화양수염색체검사。결과:기중당씨사사고풍험화단항치이상적잉부공980례,통과B초화양수검사,혹출생후학진태인환당씨종합정혹각류염색체질병적공유14례,점1.4%。사사결과위저풍험적잉부공2256례,통과B초혹출생후진단태인환선천성질병적유8례,점0.4%。결론:대잉중기적잉부진행당씨사사불부검사출당씨종합정태인,환가이사사출환유기타염색체질병혹신경관결함적태인,대강저출생결함발생솔구유중요적의의。
Objective To investigate the clinical value of Second Prenatal Trimester Screening in 3236 Cases for Down’s Syndrome. Methods Applicate time-resolved fluorescence immunoassay on 3236 cases of second trimester (14-20+6weeks) women with three targets labeled testing of serum markers AFP, uE3and Free-β-HCG.Calculate the risk of Down’s Syndrome risk by using software.For these pregnant women who is with high risk of Down’s syndrome, use Amniocentesis and B scan to find fetal karyotype .Results There are 980 pragnant women with abnormal individual value or high risk of Down’s syndrome.Make the diagnosis by B-ultrasound ,amniocentesis,and examinating the newbirth baby ,there are 14 (1.4%) fetus and fetalor postnatal diagnosis of Down syndrome and Chromosomal disease .There are 2256 pragnant women with low risk of Down’s syndrome.And among which,there are 8(0.4%) fetalor postnatal diagnosis of congenital disease.Conclusion The value of Second Prenatal Trimester Screening for screening Chromosomal disease and reducing birth defects in children born is significant.