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| The value of detection of fetal free DNA in peripheral blood of pregnant women for noninvasive prenatal diagnosis |
| Henan Maternal and Child Health Care Hospital (The Third Affiliated Hospital of Zhengzhou University), Zhengzhou, Henan Province, 450052 |
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Abstract Objective: To explore the value of detection of fetal free DNA in peripheral blood of pregnant women for diagnosing fetal aneuploidy. Methods: 616 peripheral blood samples of pregnant women for fetal free DNA testing(non-invasive prenatal screening) were detected, and at the same time, their fetal chromosome karyotype analysis by amniocentesis were also performed as the diagnosis gold standard from February 2013 to October 2017 in Henan maternal and child health care hospital. The accuracy of detection of fetal free DNA in peripheral blood of pregnant women was evaluated in the study. Results: A total of 11 cases of fetal chromosomal abnormalities were found by detection of fetal free DNA in peripheral blood of pregnant women, which included 5 cases of high-risk 21-trisomy, 3 cases of high-risk 18-trisomy, 1 case of high-risk 13-trisomy, and 2 cases of high-risk aneuploidy of sex chromosome. And a total of 12 cases of fetal chromosomal abnormalities were found by fetal chromosome karyotype analysis after amniocentesis, which included 5 cases of high-risk 21-trisomy, 3 cases of high-risk 18-trisomy, 1 case of high-risk 13-trisomy, and 3 cases of high-risk aneuploidy of sex chromosome. The overall coincidence rate of the two testing methods was 91.7%. The sensitivity, specificity, positive predictive value, negative predictive value, accuracy, positive likelihood ratio, and negative likelihood ratio of detection of fetal free DNA in peripheral blood of pregnant women were 91.7%, 100.0%, 100.0%, 99.8%、99.8%、95.0%, respectively. The area under the curve was 0.958 (95% CI: 0.867-1.000). Conclusion: Detection of fetal free DNA in peripheral blood of pregnant women can effectively find fetal chromosome aneuploidy, which is a reliable prenatal screening method. However, the possibility of false positives and false negatives of detection of fetal free DNA in peripheral blood of pregnant women cannot be ruled out completely.
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