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目的:分析羊水细胞染色体核型,探讨胎儿染色体异常特点及临床高危因素,进一步提高胎儿异常染色体核型的检出率。方法:选取818例妊娠16～23周的孕妇,通过羊水细胞培养、制片及G显带技术进行染色体分析。结果:共检出46例异常染色体核型,包括染色体数目异常21例和结构异常25例。以超声异常及夫妇一方染色体异常为指征的异常染色体检出率明显高于高龄妊娠及21三体高风险(P<0.05),21三体高风险与高龄妊娠的异常染色体检出率差异无统计学意义(P>0.05)。结论:血清学筛查高风险及高龄孕妇都有进行产前诊断的必要性。对于超声提示胎儿异常者及夫妇一方为染色体异常者应警惕胎儿染色体异常。
OBJECTIVE: To analyze the karyotype of amniotic fluid cell chromosomes, investigate the characteristics of fetal chromosomal abnormalities and clinical risk factors, and to further improve the detection rate of fetal abnormal chromosome karyotypes. Methods: A total of 818 pregnant women with gestational age from 16 to 23 weeks were enrolled in this study. Chromosome analysis was performed by amniotic fluid cell culture, preparation and G-banding technique. Results: A total of 46 abnormal karyotypes were detected, including 21 cases with abnormal chromosome number and 25 cases with abnormal structure. The detection rate of abnormal chromosomes indicated by abnormal ultrasound and chromosomal abnormality on the one side of the couple was significantly higher than that of the advanced pregnancies and the high trisomy 21 (P <0.05). There was no significant difference in the detection rate of abnormal chromosome between trisomy 21 and advanced pregnancy Significance (P> 0.05). Conclusion: Serological screening of high-risk pregnant women and have the necessity of prenatal diagnosis. Fetal chromosomal abnormalities should be observed for those who have an ultrasound abnormality that indicates a fetal abnormality and a couple who is abnormal chromosomal.