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The analysis of non-invasive DNA prenatal testing for Down's syndrome screening |
Mingzhou Hospital of Zhejiang University, Ningbo, Zhejiang Province, 315100 |
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Abstract Objective: To compare the clinical application value between non-invasive DNA prenatal testing technology (NIPT) and traditional maternal serum screening (SS) for Down's syndrome (DS) screening. Methods: 2217 pregnant women who underwent prenatal examination were selected as subjects from July 2014 to July 2017. All of them were received maternal SS and NIPT for DS screening during the second trimester pregnancy. All included women were followed up to 42 days after delivery. The results were compared between the two screening methods. Results: 41 (1.85%) cases with DS high risk were found by SS, and 19 (0.86%) cases with DS high risk were found by NIPT, and 21 (0.95%) cases were confirmed with abnormal chromosome aneuploidy after delivery. The positive detection rate, the false positive rate, the positive predictive rate, the negative predictive rate, and the specificity of SS were 81.0%, 58.5%, 41.5%, 99.8%, and 81.0%, and 98.9%, respectively. The positive detection rate, the false positive rate, the positive predictive rate, the negative predictive rate, and the specificity of NIPT were 90.5%, 0.0%, 100.0%, 99.9%, 90.5%, and 100.0%. Conclusion: As for DS screening, NTPT is more accurate and higher specificity with higher positive detection rate when compare to those of SS, which can reduce the probability of invasive prenatal examination and false labor, so it is worthy of promoting.
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