产前胎儿羊水细胞染色体核型分析3363例

Karyotype analysis of amniotic fluid in 3363 prenatal fetuses

目的 了解武汉市产前胎儿羊水染色体异常核型检出情况,探讨羊水染色体异常核型种类分布及不同产前诊断指征的异常核型检出率。方法 纳入2017年7月至2023年12月在华中科技大学同济医学院附属协和医院产前诊断中心行羊膜腔穿刺术的3363例孕妇资料进行统计分析。结果 3363例羊水样本检出368例异常核型和161例多态性变异,异常核型检出率为10.94%,包括241例数目异常、107例结构异常、20例嵌合体。羊水染色体异常核型检出率由高到低的产前诊断指征分别是:无创DNA高风险、父/母染色体异常、两项及以上异常、NT增厚、B超异常、高龄(≥35岁)、其他、不良孕产史、血清学筛查高风险。随着孕妇年龄的增长,羊水染色体核型异常的风险越高。结论 产前诊断指征中无创DNA高风险和父/母染色体异常的羊水核型异常率最高。对所有符合产前诊断指征的孕妇进行羊水染色体核型检查可以有效避免染色体异常患儿的出生。

Objective To investigate the abnormal karyotype of fetal amniotic fluid in Wuhan,and to explore the dis-tribution of abnormal karyotype of amniotic fluid and the detection rate of abnormal karyotype with different prenatal diagno-sis indications.Methods The data of 3363 pregnant women who underwent amniocentesis in the Prenatal Diagnosis Center of Union Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology from July 2017 to December 2023 were statistically analyzed.Results Among 3363 amniotic fluid samples,368 cases of abnormal karyotype and 161 cases of polymorphic variation were detected,the detection rate of abnormal karyotype was 10.94%,including 241 cases of abnormal number,107 cases of structural abnormality and 20 cases of chimera.From high to low,the indications of abnormal karyotype of amniotic fluid are:high risk of non-invasive DNA,paternal/maternal chromosome abnormality,two or more abnormalities,NT thickening,B-ultrasound abnormality,old age(≥35 years old),others,adverse pregnancy history,and high risk of serological screening.With the increase of pregnant women's age,the risk of abnormal karyotype of amniotic fluid is higher.Conclusion Among the indications of prenatal examination,the highest detection rate of abnormal karyotype of amniotic fluid is high-risk of non-invasive DNA and abnormal paternal/maternal chromosomes.It can effectively avoid the birth of children with chromosomal abnormalities by examining the amniotic fluid karyotype of all pregnant women who meet the prenatal diagnosis indicators.