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目的:分析产前诊断中异常核型与指征的关系及异常核型胎儿的调查随访,为遗传咨询提供可靠的依据。方法:对15 413例具有产前诊断指征的妊娠妇女在知情同意的情况下,经B型超声引导行羊膜腔穿刺或脐带血穿刺,经培养处理后进行染色体核型分析。有220对胎儿核型异常的父母在知情同意的情况下进行外周血染色体核型分析,之后进行电话随访。结果:细胞培养成功率为99.6%(15 349/15 413),其中羊水细胞培养成功率99.76%(11 299/11 326),脐带血细胞培养成功率99.1%(4 050/4 087)。培养成功者染色体异常占11.20%(1 719/15 349),其中正常多态性占8.70%(1 335/15 349),染色体数目异常占1.72%(264/15 349),结构异常占0.79%(121/15 349)。按产前诊断指征分布筛查高危的核型异常率,唐氏综合征为10.67%(879/8 236),高龄妊娠为9.76%(128/1 312),不良孕产史为12.27%(138/1 125),超声异常为11.41%(124/1 087),胎儿畸形引产为23.91%(132/552)。异常核型的胎儿中有108例来自母亲,69例来自父亲,43例为新发生。结论:高危妊娠妇女行产前诊断染色体分析有助于减少出生缺陷。
OBJECTIVE: To analyze the relationship between abnormal karyotypes and indications in prenatal diagnosis and the follow-up of abnormal karyotype fetuses so as to provide a reliable basis for genetic counseling. Methods: A total of 15 413 pregnant women with prenatal diagnosis indications were subjected to amniocentesis or cord blood puncture with type B ultrasound with informed consent. Chromosome karyotype analysis was performed after culture. There were 220 pairs of fetal karyotype abnormalities of parents with informed consent of the peripheral blood chromosome karyotype analysis, followed by telephone follow-up. Results: The success rate of cell culture was 99.6% (15 349/15 413). The success rate of amniotic fluid cell culture was 99.76% (11 299/11 326) and that of cord blood cell culture was 99.1% (4050/4087). The chromosomal abnormalities accounted for 11.20% (1 719/15 349). Among them, the normal polymorphism accounted for 8.70% (1 335/15 349), the number of chromosomal abnormalities accounted for 1.72% (264/15 349), the structural abnormalities accounted for 0.79% (121/15 349). According to the prenatal diagnostic indications, the high-risk abnormalities of karyotype were screened. Down syndrome was 10.67% (879/8 236), advanced pregnancy was 9.76% (128/1 312) and unhealthy pregnancy history was 12.27% 138/1 125), sonographic abnormality was 11.41% (124/1 087) and fetus malformation induced labor was 23.91% (132/552). Of the abnormal karyotypes, 108 were from mothers, 69 from fathers and 43 were new. Conclusion: Prenatal diagnosis of chromosomes in high-risk pregnant women may help reduce birth defects.