CAJ | 학술논문

[摘要]:目的:探讨孕中期产前筛查和产前诊断在临床中的应用和意义.方法:应用时间分辨法,以血清AFP、β-HCG作为指标,对4760例在孕15~20+6周孕妇进行产前筛查,对筛查为高风险的孕妇进行一对一的遗传咨询和产前诊断,并在产后3月内对其分娩结局进行随访观察.结果:随访中发现有不同程度畸形、流产、死胎等不良妊娠共29例:高风险者6例,低风险者23例.其中羊水染色体异常2例、超声检查检出各种畸形(开放性神经管畸形如脊柱裂、小头畸形、脑膨出等)6例、内脏畸形(如先心病、肾发育不良、胎儿宫内发育异常等)5例.不明原因死胎、晚期流产3例,21-三体新生儿1例(产前筛查唐氏高风险而拒绝羊水穿刺细胞学检查所致).结论:孕中期产前筛查和产前诊断可降低出生缺陷的发生.
[적요]:목적:탐토잉중기산전사사화산전진단재림상중적응용화의의.방법:응용시간분변법,이혈청AFP、β-HCG작위지표,대4760례재잉15~20+6주잉부진행산전사사,대사사위고풍험적잉부진행일대일적유전자순화산전진단,병재산후3월내대기분면결국진행수방관찰.결과:수방중발현유불동정도기형、유산、사태등불량임신공29례:고풍험자6례,저풍험자23례.기중양수염색체이상2례、초성검사검출각충기형(개방성신경관기형여척주렬、소두기형、뇌팽출등)6례、내장기형(여선심병、신발육불량、태인궁내발육이상등)5례.불명원인사태、만기유산3례,21-삼체신생인1례(산전사사당씨고풍험이거절양수천자세포학검사소치).결론:잉중기산전사사화산전진단가강저출생결함적발생.
@@@@Objective: To explore clinical application and significance of prenatal screening and diagnosis. Methods: Time-resolved method was used with serum AFP,β-HCG as indicators in 4 760 pregnant women with pregnancy15-20+6weeks for prenatal screening. For high risk pregnant women, genetic counseling and prenatal diagnosis were provided, and in the postpartum period, the delivery outcome follow-up observation was done. Results:In the follow-up, we found 29 cases of varying degrees of deformity, abortion, stillbirth and other adverse pregnancy outcomes. 6 cases were of high risk; 23 were of low risk. The amniotic fluid chromosome abnormalities existed in 2 cases; ultrasonic examination in detection of various malformations: open neural tube defects such as spina bifida, microcephaly, encephaloc in 6 cases;visceral malformations such as congenital heart disease, renal dysplasia, intrauterine fetal growth abnormalities in 5 cases; an unexplained stillbirth, late abortion in 3 cases. 21- trisomy 1 newborn in 1 case (prenatal screening for Down's risk to the amniotic fluid puncture cytology). Conclusion:Prenatal screening and prenatal diagnosis can decrease the incidence of birth defects.