广西地区15 413例产前诊断中异常核型的分析性研究

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。

Abnormal Karyotypes in 15 413 Cases with Prenatal Diagnosis in Guangxi Province,China: a Retrospective Study

Objective: To analyze retrospectively the abnormal karyotypes, and the indications of prenatal diagnosis, and to follow-up survey those fetuses with abnormal karyotypes, so as to provide references for genetic counseling. Methods: Chromosomal karyotype analysis was performed in 15 413 cases with the indications of prenatal diagnosis, using fetal samples by amniocentesis or umbilical cord puncture with the informed consent. Total 220 pairs with abnormal karyotype fetuses were surveyed follow-up by phone, and their child were checked chromosomal karyotypes using peripheral blood samples. Results: Total success rate of cell culture was 99.6% （15 349/15 413）, including 99.76%（11 299/11 326） in amniotic fluid samples and 99.1%（4 050/4 087） in umbilical cord blood samples. The rate of chromosomal abnormalities was 11.20% (1 719/15 349), including 8.70% （1 335/15 349） normal polymorphism, 1.72% （264/15 349） abnormal number of chromosomes and 0.79% （121/15 349） structural abnormalities of chromosomes. Classified according to the indications of prenatal diagnosis, the rates of chromosomal abnormalities were as follows, 10.67% （879/8 236） Down′s syndrome, 9.76% （128/1 312） elderly pregnant women, 12.27%（138/1 125） history of adverse pregnancy, 11.40%（124/1 087） abnormality found by B-ultrasound, 23.91%（132/552） abortion due to fetal malformation. In those chromosomal abnormalities, 108 abnormal karyotypes were from mothers, 69 from fathers, 43 from spontaneous abnormalities. Conclusions: The prenatal diagnosis and chromosomal analysis in those high-risk pregnant women are helpful to reduce birth defects.