摘要
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。
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. Reaults：（1）The detection rate 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）.（2）Among 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：Amniotic 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 reduced the incidence of child birth defects.
出处
《实用妇产科杂志》
CAS
CSCD
北大核心
2009年第12期724-726,共3页
Journal of Practical Obstetrics and Gynecology
关键词
产前诊断指征
羊水细胞培养
染色体异常
妊娠结局
Indication of antenatal diagnosis
Amniotic cell culture
Chromosomal abnormality
Pregnancy Outcome
