四川医学
四川醫學
사천의학
SICHUAN MEDICAL JOURNAL
2014年
12期
1535-1538
,共4页
秦胜芳%李运星%陈春%魏萍%曾兰%汪雪雁%席娜%唐书琴%叶梦玲%伍志灵%邓艺
秦勝芳%李運星%陳春%魏萍%曾蘭%汪雪雁%席娜%唐書琴%葉夢玲%伍誌靈%鄧藝
진성방%리운성%진춘%위평%증란%왕설안%석나%당서금%협몽령%오지령%산예
产前筛查%产前诊断%21-三体综合征
產前篩查%產前診斷%21-三體綜閤徵
산전사사%산전진단%21-삼체종합정
prenatal screening%prenatal diagnosis%21-trisome syndrome
目的：通过临床对21-三体的诊断，初步观察产前筛查和产前诊断工作对现行的降低21-三体综合征患儿出生的有效性。方法采用羊水培养和脐血培养与 G 显带法以及 FISH 技术对6059例孕妇进行产前诊断；对174例出生后智力低下、发育迟缓和畸形患者的外周血培养与 G 显带进行核型分析和回顾性随访。结果5年来，产前诊断出21-三体胎儿49例，外周血检出48例21-三体综合征患者。结论产前诊断采用综合性措施将对降低21-三体综合征患儿的出生率起到非常重要的作用，现行的产前筛查和产前诊断工作还需进一步巩固和加强。
目的：通過臨床對21-三體的診斷，初步觀察產前篩查和產前診斷工作對現行的降低21-三體綜閤徵患兒齣生的有效性。方法採用羊水培養和臍血培養與 G 顯帶法以及 FISH 技術對6059例孕婦進行產前診斷；對174例齣生後智力低下、髮育遲緩和畸形患者的外週血培養與 G 顯帶進行覈型分析和迴顧性隨訪。結果5年來，產前診斷齣21-三體胎兒49例，外週血檢齣48例21-三體綜閤徵患者。結論產前診斷採用綜閤性措施將對降低21-三體綜閤徵患兒的齣生率起到非常重要的作用，現行的產前篩查和產前診斷工作還需進一步鞏固和加彊。
목적：통과림상대21-삼체적진단，초보관찰산전사사화산전진단공작대현행적강저21-삼체종합정환인출생적유효성。방법채용양수배양화제혈배양여 G 현대법이급 FISH 기술대6059례잉부진행산전진단；대174례출생후지력저하、발육지완화기형환자적외주혈배양여 G 현대진행핵형분석화회고성수방。결과5년래，산전진단출21-삼체태인49례，외주혈검출48례21-삼체종합정환자。결론산전진단채용종합성조시장대강저21-삼체종합정환인적출생솔기도비상중요적작용，현행적산전사사화산전진단공작환수진일보공고화가강。
Objective To observe the elementary validity of the prenatal screening and diagnosis in reducing the birth rate of 21-trisome syndrome fetuses after diagnosis of the 21-trisome in clinic. Methods In prenatal diagnosis,chromosome karyo-type of amniotic fluid cell or cord blood cell was analyzed after culturing and G-banding,and FISH technology to detect uncultured cell of amniotic fluid in 6059 pregnant women;In the detection of postnatal patients,peripheral blood chromosome karyotype was analyzed after culturing and G-banding in 174 patients who suffered from mental retardation or body growth slowly or malformation, and carried out follow-up investigation retrospectively. Results 49 cases of 21-trisome fetuses were diagnosed in the prenatal diag-nosis pregnant women,and 48 cases of 21-trisome syndromes were detected in peripheral blood in the five past years. Conclusion Comprehensive measures play a very important role in reducing the birth rate of the 21-trisome syndrome. The work of prenatal screening and prenatal diagnosis is still to strengthen in Sichuan Province.
