闽西地区羊水细胞染色体核型及产前诊断指征分析  

Analysis of Karyotype of Amniotic Fluid Cells and Indications for Prenatal Diagnosis in Western Fujian Province

作　　者：赖晓敏 刘桂英 黄敏红 LAI Xiao-min;LIU Gui-ying;HUANG Min-hong(Department of Obstetrics,Longyan First Hospital Affiliated to Fujian Medical University,Longyan 364000,Fujian Province,China)

机构地区：[1]福建医科大学附属龙岩第一医院产科,福建龙岩364000

出　　处：《罕少疾病杂志》2024年第7期102-103,121,共3页Journal of Rare and Uncommon Diseases

摘　　要：目的了解闽西地区产前筛查高风险孕妇异常染色体核型检出情况及不同产前诊断指征异常染色体核型分布特征。方法2013年1月-2021年12月11827例产前筛查高风险孕妇行经腹羊膜腔穿刺手术,抽取羊水行染色体核型分析。结果(1)染色体核型异常检出率呈现逐年上升趋势。(2)产前筛查高风险孕妇诊断为染色体核型异常396例(检出率3.35%),包含血清学高风险163例,年龄≥35岁182例,超声异常39例,不良孕史3例,其他原因9例。(3)胎儿常染色体非整倍体核型异常300例,包含21-三体综合征247例,18-三体综合征47例,13-三体综合征6例。(4)性染色体非整倍体核型异常96例,包含45,X 9例,47,XYY 15例,47,XXY 34例,47,XXX 38例,不良孕史未检出核型异常。结论产前筛查和产前诊断有助于及早发现异常胎儿染色体核型,为闽西地区出生缺陷的预防提供数据支撑和指导建议。Objective To investigate the detection of abnormal karyotypes in pregnant women at high risk of prenatal screening and the distribution characteristics of abnormal karyotypes for different prenatal diagnosis indications in western Fujian province.Methods From January 2013 to December 2021,11827 pregnant women at high risk for prenatal screening underwent transabdominal amniocentesis and amniotic fluid was extracted for karyotyping.Results(1)The detection rate of abnormal karyotypes showed an increasing trend year by year.(2)There were 396 cases of abnormal karyotypes diagnosed in pregnant women with high risk of prenatal screening(detection rate 3.35%),including 163 cases with high serological risk,182 cases aged≥35 years,39 cases with ultrasound abnormalities,3 cases with adverse pregnancy history and 9 cases with other reasons.(3)300 cases of fetal autosomal aneuploidy karyotype abnormalities,including 247 cases of trisomy 21 syndrome,47 cases of trisomy 18 syndrome and 6 cases of trisomy 13 syndrome.(4)96 cases of sex chromosome aneuploidy karyotype abnormalities,including 9 cases of 45,X,15 cases of 47,XYY,34 cases of 47,XXY and 38 cases of 47,XXX,and no karyotype abnormalities detected in adverse pregnancy history.Conclusion Prenatal screening and prenatal diagnosis help to detect abnormal fetal karyotypes at an early stage and provide data support and guidance recommendations for the prevention of birth defects in western Fujian province.

关 键 词：产前筛查 产前诊断 经腹羊膜腔穿刺手术 染色体核型分析 

分 类 号：R714.5[医药卫生—妇产科学]