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产前筛查和诊断多技术优化整合在胎儿出生缺陷中的对比研究 被引量:8

Comparative study on optimization and integration of prenatal screening and diagnosis in fetal birth defects
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摘要 目的对比研究孕期产前筛查和诊断多技术优化整合模式在预防胎儿出生缺陷中的应用。方法选取银川市妇幼保健院产前诊断中心门诊就诊的孕妇,针对不同的具体临床情境,优化和有效整合多种产前筛查和诊断检测方法,包括产前超声检查、无创产前检测、血清学筛查、染色体核型分析、染色体微阵列技术等,制订针对不同孕妇的个体化产前筛查和诊断模式。结果选取6845例孕妇为优化整合组,检出异常361例,异常检出率为5.27%,出生缺陷胎儿23例,出生缺陷发生率0.34%。选取6413例孕妇为未优化整合组,检出异常241例,异常检出率为3.76%,出生缺陷胎儿46例,出生缺陷发生率0.72%。优化整合组与非优化整合组异常检出率和出生缺陷发生率比较,差异均有统计学意义(P<0.01)。结论孕期产前筛查和诊断多技术优化整合模式能显著减少出生缺陷的发生。 Objective To compare and study the application of multi technology optimization and integration mode of prenatal screening and diagnosis during pregnancy in the prevention of fetal birth defects.Methods Pregnant women in the outpatient clinic of the prenatal diagnosis center of Yinchuan Maternal and Child Health Hospital was selected.According to different specific clinical situations,a variety of prenatal screening and diagnostic testing methods were optimized and effectively integrated,including prenatal ultrasound,noninvasive prenatal testing,serological screening,chromosome karyotype analysis and chromosome microarray technology,in order to formulate individualized prenatal screening and diagnostic models for different pregnant women.Results In this study,6845 pregnant women were selected as the optimized integration group,361 cases were detected abnormal,the abnormal detection rate was 5.27%,23 cases were born with defects,and the incidence of birth defects was 0.34%.A total of 6413 pregnant women were selected as the non optimized integration group,241 cases were detected abnormal,the abnormal detection rate was 3.76%,46 cases were born with defects,and the incidence of birth defects was 0.72%.There were statistically significant differences in the abnormal detection rate and the incidence of birth defects between the optimized integration group and the non optimized integration group(P<0.01).Conclusion The optimization and effective integration of prenatal screening and diagnosis during pregnancy could significantly reduce the incidence of birth defects.
作者 马海霞 李春 宋娟 李莉 MA Haixia;LI Chun;SONG Juan;LI Li(Department of Clinical Laboratory,Shanghai Changning Maternal and Child Health Hospital,Shanghai 200051,China;Department of Clinical Laboratory,Yinchuan Maternal and Child Health Hospital,Ningxia,Yinchuan 750001,China;Department of Obstetrics,Yinchuan Maternal and Child Health Hospital,Ningxia,Yinchuan 750001,China)
出处 《检验医学与临床》 CAS 2022年第15期2042-2045,共4页 Laboratory Medicine and Clinic
基金 宁夏回族自治区自然科学基金项目(NZ16226)。
关键词 产前筛查 产前诊断 优化整合 出生缺陷 prenatal screening prenatal diagnosis optimization and integration birth defect
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