摘要
目的分析胎儿羊水细胞染色体核型,探讨各种产前诊断指征下染色体异常的检出率。方法对有产前诊断指征的孕中、晚期孕妇进行细胞遗传学产前诊断,比较在各种产前诊断指征下,胎儿染色体异常的检出率。结果羊水细胞培养成功率为95%(562/591),发现异常核型为33例,染色体异常的检出率为5.9%(33/562),三体综合征为15例(45.5%);其中,唐氏综合征为8例,18三体综合征为4例,16三体综合征为1例。在双亲之一携带染色体异常患者中,胎儿异常核型的检出率为50%。超声检查提示,本组胎儿发育异常率为10%(孕妇年龄超过或等于35岁为5.6%),血清学产前筛查高风险为2.6%。结论夫妇一方为染色体异常携带者、超声提示胎儿发育异常、孕妇高龄、血清学产前筛查高风险,是最主要的细胞遗传学产前诊断指征。
Objectives To analyze the chromosomal karyotypes of fetus, and discuss the detection rates of chromosomal abnormalities under different indications for prenatal diagnosis. Methods Cytogenetic prenatal diagnosis were performed on a cohort of pregnant women with different indications in the second- or third-trimester. Detection rates of fetal chromosomal abnormalities under each indication were compared. Results The success rate of amniotic fluid cell culture was 95.1% （562/591）, and 33 cases of abnormal karyotypes were found. The detection rate of abnormality was 5. 9% （33/562）, including 15 cases of triploid syndromes （45.4%）, 8 cases of Down＇s syndrome, 4 cases of 18-trisomy, and 1 case of 16-trisomy syndrome. The detection rate of abnormal karyotypes was 50~/40 in the pregnant women who or which couple was a carrier of constitutional chromosome abnormality, 10% of the fetuses with abnormal ultrasound founding, 5.6% of pregnant women elder than 35 years old, and 2.6% in high risk pregnancy by serum prenatal screening. Conclusion A carrier of chromosomal abnormality of one of the couple, fetal abnormalities found by ultrasound, elder maternal age, and a high risk result by serum prenatal screening are the most important genetic indications for prenatal diagnosis.
出处
《中华妇幼临床医学杂志（电子版）》
CAS
2007年第6期304-307,共4页
Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)
基金
云南省自然科学基金重点资助项目(2003C0018Z)
关键词
产前诊断
染色体
核型分析
指征
prenatal diagnosis
chromosome
karyotype analysis
indications
