胎儿颈项透明层联合中孕产前无创DNA检测在胎儿染色体疾病产前筛查中的应用

发布时间：2018-03-08 15:09

本文选题：胎儿颈项透明层　切入点：无创DNA　出处：《实用医学杂志》2015年22期 　论文类型：期刊论文

【摘要】：目的:探讨胎儿颈项透明层联合产前无创DNA检测在胎儿染色体疾病产前筛查中的临床应用价值。方法:2010年10月至2014年6月我院妇产科门诊就诊的孕11~14周孕妇713例,测量胎儿颈项透明层厚度,厚度异常的孕妇根据自愿行无创DNA检测,并随访观察。结果:713例孕妇超声检查提示胎儿颈项透明层增厚27例,21例行无创DNA检查,21-三体3例,18-三体1例,17例染色体核型正常的胎儿在以后的超声检查随访中6例出现异常。6例未行无创DNA检查的孕妇在以后的超声检查随访中2例出现异常;21-三体胎儿的颈项透明层厚度范围为3.7~4.4 mm,平均4.0 mm;1例18-三体胎儿的颈项透明层厚度约5.0 mm。结论:胎儿颈项透明层厚度联合无创DNA检测能够提高胎儿染色体疾病的检出率,减少染色体异常胎儿出生率。
[Abstract]:Objective: to evaluate the clinical value of fetal cervical transparent layer combined with prenatal noninvasive DNA in prenatal screening for fetal chromosomal diseases. Methods: from October 2010 to June 2014, 713 pregnant women with 1114 weeks of gestation were enrolled in our department of obstetrics and gynaecology from October 2010 to June 2014. The thickness of transparent layer of fetal neck was measured, and the pregnant women with abnormal thickness were examined by non-invasive DNA. Results Ultrasonic examination of fetal cervical hyaline layer thickening 27 cases and 21 cases of fetal cervical hyaline layer thickening revealed 21 cases of trisomy 21 cases of trisomy 18 trisomy and 1 case of 17 fetuses with normal chromosome karyotype. 6 cases of abnormal 6 cases without DNA, 2 cases of abnormal trisomy were followed up by ultrasonography. The thickness of cervical transparent layer in 2 cases of abnormal 21 trisomy fetus was 3.74.4mm, with an average of 4.0 mm and 1 case of 18 trisomy fetus had a thickness of transparent layer of neck of 18 trisomy fetus. Conclusion: the thickness of transparent layer of fetal neck combined with noninvasive DNA can improve the detection rate of fetal chromosomal diseases. Reduce the birth rate of chromosomal abnormalities.
【作者单位】：滨州医学院附属医院超声医学科;滨州市市立医院病理科;滨州医学院附属医院妇产科;
【基金】：山东省人口和计划生育委员会科技计划项目
【分类号】：R714.5;R445.1

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