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目的通过对有产前诊断指征的中期妊娠孕妇自愿进行羊水细胞遗传学分析,检出染色体异常核型胎儿,从而减少异常缺陷儿的出生。方法采用我室的改良羊水细胞原位培养方法进行培养和G显带染色体核型分析。结果在6085例羊水细胞培养中。发现染色体异常核型359例。异常检出率为5.90%,其中常染色体数目异常72例占异常核型的20.06%,常染色体结构异常237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66.02%,性染色体数目异常39例,占异常核型的10.86%。性染色体结构异常11例,占异常核型的3.06%。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 detect the chromosomal aberrant karyotype fetus by voluntary amniotic fluid cytogenetic analysis of pregnant women with interim pregnant women with prenatal diagnosis indications to reduce the birth of abnormal children. Methods The method of in situ culture with modified amniotic fluid in situ cell culture and G-banding karyotype analysis were used. Results in 6085 cases of amniotic fluid cell culture. Found in 359 cases of chromosomal abnormal karyotype. The detection rate of anomaly was 5.90%, of which 72 cases accounted for 20.06% of anomalous karyotype, and 237 cases of an autosomal abnormality (including polymorphic variation of normal variation and heterochromatin) accounted for abnormal nuclei. Type 66.02%, abnormal number of chromosomal 39 cases, accounting for 10.86% of abnormal karyotype. 11 cases of abnormal sex chromosome structure, accounting for 3.06% of abnormal karyotype. 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.