CAJ | 학술논문

目的:探讨产前诊断指征在胎儿染色体异常诊断中的价值及其对妊娠结局的指导意义.方法:对439例有产前诊断指征的孕妇,在超声引导下经腹羊膜腔穿刺抽取羊水检查染色体核型,比较不同产前诊断指征的胎儿染色体异常检出率,分析各组染色体异常类型与妊娠结局的关系.结果:①胎儿染色体异常检出15例,总的异常检出率3.42%.夫妇平衡易位组胎儿染色体异常检出率最高为66.67%,与高龄组、唐氏高危组、不良孕产史(夫妇染色体检查正常)组比较,差异有统计学意义(P<0.05);而高龄组、唐氏高危组、不良孕产史组和超声检查异常组的胎儿染色体异常检出率分别为5.22%、2.28%、1.54%、16.67%、,组间两两比较差异均无统计学意义(P>0.05).②15例染色体异常中.高龄组占40.00%,唐氏高危组占33.33%.染色体数目异常6例,5例行孕中期引产;结构异常7例,1例行孕中期引产,1例流产;嵌合体2例均行孕中期引产;余6例足月分娩.结论:对具有产前诊断指征的孕妇进行羊水细胞培养及染色体核型分析,不仅能及时发现胎儿染色体异常,为孕妇是否继续妊娠提供科学依据,而且有利于降低出生缺陷发生率.
목적:탐토산전진단지정재태인염색체이상진단중적개치급기대임신결국적지도의의.방법:대439례유산전진단지정적잉부,재초성인도하경복양막강천자추취양수검사염색체핵형,비교불동산전진단지정적태인염색체이상검출솔,분석각조염색체이상류형여임신결국적관계.결과:①태인염색체이상검출15례,총적이상검출솔3.42%.부부평형역위조태인염색체이상검출솔최고위66.67%,여고령조、당씨고위조、불량잉산사(부부염색체검사정상)조비교,차이유통계학의의(P<0.05);이고령조、당씨고위조、불량잉산사조화초성검사이상조적태인염색체이상검출솔분별위5.22%、2.28%、1.54%、16.67%、,조간량량비교차이균무통계학의의(P>0.05).②15례염색체이상중.고령조점40.00%,당씨고위조점33.33%.염색체수목이상6례,5례행잉중기인산;결구이상7례,1례행잉중기인산,1례유산;감합체2례균행잉중기인산;여6례족월분면.결론:대구유산전진단지정적잉부진행양수세포배양급염색체핵형분석,불부능급시발현태인염색체이상,위잉부시부계속임신제공과학의거,이차유리우강저출생결함발생솔.
Objective:To investigate the relationship between the prenatal diagnosis indication and fetal chromosomal abnormalities, and assess the value in pregnancy outcomes. Methods: Percutaneous ultrasound-monitored amniocentesis was performed in 439 pregnant women with antenatal diagnosis indications to detect the karyotype of the fetus. The detection rate of the chromosomal abnormality was compared in different group.The relationship between the type of chromosomal abnormality and pregnancy outcome was analyzed in different groups. Results:①The detectionrate of the chromosomal abnormality in 439 cases was 3.42% (15 cases) .The detection rate of chromosomal abnormality in balanced translocation couples was 66.67%, which was significant difference compared with elder group, Down syndrome high risk group and abnormal history of reproduction group (the chromosomal detection in couples was normal) ( P<0.05). The detection rate of chromosomal anomaly was 5.22%, 2.28%,1.54%, 16.67% in elder group, high risk of Down Syndrome group,abnormal history of reproduction, abnormal Ultrasound finding, respectively. There was no significant difference between each of them( P>0.05) .②Among 15 cases with abnormal karyotype, 6 cases were chromosome number abnormal (5 induced labor in the second trimester) ,7 cases were aberrations of chromosomal structure( 1 induced labor in the second trimester, 1 abortion) ,2 cases were chimera (2 induced labor), the other 6 cases were term labor.Conclusions: Amnbtic cell culture and chromosome karyotype analysis should be done in the cases with prenatal diagnosis indications. Prenatal diagnosis has not only detected fetal abnormal chromosome in time, but also provided a scientific basis for pregnant women who made a choice, and re duced the incidence of child birth defects.