【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。更多还原

【Abstract】 Objective To assess the value of nuchal translu-cency in combination with non-invasive prenatal DNA test in fetal with chromosomal disease. Methods A total of 713 cases with single pregnancies,with 11 ~ 14 gestational weeks, were enrolled in this study. We measured the thickness of nuchal translu-cency,If the thickness was abnomal, the pregnant women would receive the non-invasive prenatal DNA test on voluntary basis and were followed up. Results There were 27 cases with abnormal NT among 713 cases.Twenty-one cases received non-invasive prenatal DNA test, the test results showed that 3 cases were trisomy 21,1 cases was trisomy 18. Among the 17 cases with normal chromosome karyotype, 6 cases were found abnomal during the follw-up. Two cases were found abnomal among the 6 cases undergo the non-invasive prenatal DNA test.The thickness of NT, ranging from 3.7 mm to 4.4 mm, was trisomy 21, with the average of 4.0 mm, and the thickness of NT was 5.0mm and was trisomy 18. Conclusions The application of nuchal translu-cency in combination with non-invasive prenatal DNA test could improve the ability to find fetal chromosomal disease and to decrease the birth defect.更多还原