Noninvasive DNA testing technology in the application of the fetal chromosomal aneuploidy disease

MA Tingting; LIU Huaping; HOU Zhaohui; REN Dongping

Abstract：Objective To evaluate the role of noninvasive prenatal detection of DNA technology in the clinical application of fetal chromosomal aneuploidy disease.Methods A total of 2 078 pregnant women of natural singletons pregnancy who approved of accepting noninvasive prenatal detection of DNA in antenatal clinics, Air Force General Hospital antenatal clinics were recruited for this study from December 2011 to December 2014. The method collected peripheral blood of pregnant women, extracted cell-free fetal DNA, and used PCR amplification, then applied a new generation of high-throughput sequencing technology to find out the risk rate of fetal suffering from fetal chromosomal aneuploidy diseases(such as Down's syndrome, Trisomy 18 syndrome, Trisomy 13 syndrome). Consultation was given to those whose detection results were at high risk, diagnostic means such as amniotic fluid puncture were suggested, and the pregnancy outcomes were followed up.Results We found a total of 23 cases of noninvasive prenatal detection of DNA abnormal: 10 cases suggested high risk of Down's syndrome, 2 cases suggested high risk of Trisomy 18 syndrome, 1 case suggested critical risk of Trisomy 18 syndrome, 3 cases suggested high risk of Trisomy 13 syndrome, 3 cases suggested sex chromosome abnormality(2 cases suggested 45,X0; 1 case suggested 47,XXY), 4 cases prompted other chromosomal abnormalities(2 cases suggested chromosome 7 bullish, 1 case of chromosome 16 bullish, 1 case of chromosome 17 bullish). Amniotic fluid puncture examination confirmed 11 cases of fetal chromosomal aneuploidy disease. 11 cases of confirmed fetal chromosomal aneuploidy disease contained 6 cases of Down's syndrome; 2 cases of Trisomy 18 syndrome; 2 cases of Trisomy 13 syndrome; 1 case of 47, XXY. 2 cases of noninvasive genetic tests prompted abnormal, but amniotic fluid puncture examination was normal, then byfollowing up their pregnancy outcomes, no abnormalities were found. The sensitivity of noninvasive prenatal detection of DNA technology in the diagnosis of chromosomal aneuploidy abnormality was 100%, the specificity was 99.81%, the false positive rate was 0.19%, and the false negative rate was 0%. Conclusion Noninvasive prenatal detection of DNA technology is noninvasive and accurate in screening for fetal chromosomal aneuploidy disease, having clinical value.