Application of nuchal translu-cency in combination with non-invasive prenatal DNA test in fetal chromosomal disease / 实用医学杂志

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.