连云港地区1234例羊水细胞染色体核型分析

目的分析连云港地区1234例孕中期羊水细胞染色体核型结果,探讨染色体异常核型在各产前诊断指征下发生的频率、类型及其之间的关系。方法根据产前诊断的不同指征,将染色体核型结果分组,分析染色体异常核型的检出率及分布。结果 1234例羊水细胞染色体核型中,母血清学产前筛查高风险900例（3.11%）;高龄（≥35岁）235例（2.13%）;超声提示胎儿异常62例（11.29%）;不良孕史24例（4.17%）;无创产前DNA检测提示异常7例（85.71%）,共检出异常核型48例（3.89%）。异常核型中染色体易位6例,5例遗传自亲代,1例为新发突变;染色体倒位6例,均遗传自亲代;性染色体异常7例,21三体15例,18三体4例,13三体1例,三倍体1例。结论羊水细胞染色体核型分析是临床产前诊断的经典方法之一。超声检查提示异常以及高龄孕妇应注意胎儿染色体异常的可能性。对于无创产前DNA检测的结果要进行羊水细胞染色体核型分析的验证。

The karyotypes analysis of amniotic fluid cell in 1234 cases in Lianyungang Region

Objective：To analyze the chromosome nuclear types of amniotic fluid cell from 1234 women at intermediate stage of pregncy,and investigate the relationship between the detection rates,types of chromosomal abnormalities and different indications for prenatal diagnosis. Methods：The amniotic fluid samples were obtained under the ultrasound localization and cultured for the analyze of chromosome nuclear types. The detection rate of the chromosomal abnormality was compared in different groups. Results：In 1234 cases,900 cases were the high-risk result by maternal serum prenatal screening and the detection rate of chromosome abnormality was 3.11%;235 cases were advanced age（elder than 35 years old）and the rate was 2.13%;ultrasound indicated fetal abnormality in 62 cases and the rate was 11.29%;24 cases had adverse pregnancy history and the rate was 4.17%;noninvasive prenatal DNA testing indicated abnormality in 7 cases and the rate was 85.71%. The total number of abnormal karyotype cases was 48 and the rate was 3.89%. 6 cases in abnormal karyotype were chromosome translocation,in which 5 cases inherited from the parent and 1 case was the new mutation;6 cases were inversion of chromosomes,all of which inherited from the parent;7 cases were sex chromosome abnormalities;15 cases were trisomy 21;4 cases were trisomy 18;1 case was trisomy 13;1 case was triploid. Conclusion：The karyotypes analysis of amniotic fluid cell is the classic method for prenatal diagnosis. The maternal should pay attention to the fetal chromosomal abnormality when they met the case of ultrasound abnormality and advanced age. The result of the noninvasive prenatal DNA testing should be tested by the karyotypes analysis of amniotic fluid cell.