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目的：了解河南地区群体染色体异常情况，进而探讨可能与染色体异常有关的因素。方法：综合运用多种现代细胞遗传学技术对３０６８例新生儿进行染色体核型分析，并对染色体异常者进行家系分析和病例对照研究。结果：新生儿染色体异常８４例，异常发生率为２７４％。其中只有１１例（１３１％）由上代遗传，７３例（８６９％）为新突变所致。父母高龄、母亲妊娠期间有致畸因素暴露史、母亲有异常妊娠史及宫内发育迟缓等是新生儿染色体异常的危险因素。结论：河南地区新生儿染色体异常发生率较高，进一步开展产前诊断工作具有重要的优生学意义。
OBJECTIVE: To understand the chromosomal abnormalities in Henan population and to explore the possible factors related to chromosomal abnormalities. Methods: Using a variety of modern cytogenetic techniques in 3068 cases of neonatal chromosome karyotype analysis, and chromosomal abnormalities for pedigree analysis and case-control study. Results: Neonatal chromosomal abnormalities in 84 cases, the abnormal incidence was 274%. Only 11 (13.1%) were inherited from the previous generation and 73 (86.9%) were new mutations. Elderly parents, mothers have teratogenic factors during pregnancy, history of pregnancy, abnormal pregnancy history and intrauterine growth retardation are neonatal chromosomal abnormalities risk factors. Conclusion: There is a high incidence of chromosomal abnormalities in neonates in Henan Province, and further prenatal diagnosis has important eugenics significance.