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目的探讨羊水细胞培养、检出染色体异常核型胎儿,防止染色体病患儿出生的意义。方法 1946例妊娠18-23周的孕妇在超声引导下进行羊膜腔穿刺,并细胞培养及染色体核型分析。结果检出异常核型144例,异常检出率为7.40%,其中常染色体数目异常26例占异常核型的18.06%,常染色体结构异常107例(含正常变异的倒位和异染色质增加等多态性变异)占异常核型的74.30%,性染色体数目异常9例,占异常核型的6.12%,性染色体结构异常2例,占异常核型的1.36%。结论通过进行产前诊断,发现胎儿染色体核型异常时,在患者自愿的情况下,采取相应的措施,防止先天缺陷儿的出生。
Objective To investigate the significance of amniotic fluid cell culture to detect chromosomal abnormality karyotype fetus and prevent the birth of chromosome children. Methods 1946 pregnancies of 18-23 weeks of gestation were subjected to amniocentesis under the guidance of ultrasound and cell culture and karyotype analysis. Results There were 144 cases with abnormal karyotype detected, the rate of abnormality was 7.40%. Among them, 26 cases had abnormal autosomal number accounting for 18.06% of abnormal karyotypes and 107 cases of autosomal abnormalities (including the variation of normal variation and heterochromatin ) Accounted for 74.30% of abnormal karyotypes, 9 cases of abnormal sex chromosome number, 6.12% of abnormal karyotypes, 2 cases of sex chromosome abnormalities, accounting for 1.36% of abnormal karyotypes. Conclusions Through prenatal diagnosis, we found that when the fetal karyotype is abnormal, we should take appropriate measures to prevent the birth of children with congenital defects.