Application values of prenatal screening and non‑invasive gene sequencing in fetal birth defects
Authors: Bu Jingjing , Jiang Pan , Cui Xiaoli , Zhou Hongyan , Han Fengxia 
Published: September 2020

Objective: To investigate effects of prenatal screening and non-invasive gene sequencing on the clinical diagnosis of fetal birth defects and the outcome of pregnancy.
Methods: Totally 2520 pregnant women who received prenatal screening in our hospital were selected as the research subjects. The high-risk pregnant women were further tested by the non-invasive gene sequencing technology. Pregnant women with positive results were diagnosed by amniocentesis and fetal chromosome karyotype analysis, and the pregnancy outcome was followed up for one year.
Results: 870 out of the 2520 pregnant women was tested by non-invasive gene sequencing technology; 26 of the 870 women was 13-trisomy-positive and was diagnosed by amniocentesis and fetal chromosome karyotype analysis, 22 of which was diagnosed as 47, XN, +13 and four of which was normal; the diagnosis accuracy of non-invasive prenatal testing (NIPT) was 84.6%. 18 out of the 22 confirmed cases underwent abortion, three cases had termination of embryonic development, and one case had postnatal anomaly. Thirty four out of the 2520 pregnant women was 18-trisomy-positive and was diagnosed by amniocentesis and fetal chromosome karyotype analysis, 31 of which was diagnosed as 47, XN, +18 and three cases were normal; the diagnosis accuracy of NIPT was 91.2%. 29 out of the 31 confirmed cases underwent abortion and two cases had termination of embryonic development. Forty out of the 2520 pregnant women was 21-trisomy-positive and was diagnosed by amniocentesis and fetal chromosome karyotype analysis, 39 of which was diagnosed as 47, XN, +21 and one case was normal; the diagnosis accuracy of NIPT was 97.5%. Thirty four out of the 39 confirmed cases underwent abortion, three cases had termination of embryonic development, and two cases had postnatal anomaly. Twenty eight cases were tested as sex chromosome-positive and were diagnosed by amniocentesis and fetal chromosome karyotype analysis, 25 out of which was diagnosed as abnormal and three cases were normal; the diagnosis accuracy of NIPT was 89.3%. 24 out of the 25 confirmed cases underwent abortion, and one case had termination of embryonic development.
Conclusion: Prenatal screening and non-invasive gene sequencing technology have a high accuracy in the diagnosis of fetal birth defects, which can reduce the maternal abortion injury as much as possible and relieve the psychological pressure. The promotion of the mode can be strengthened in clinics.
doi: https://doi.org/10.12669/pjms.36.7.2290
How to cite this:Bu J, Jiang P, Cui X, Zhou H, Han F. Application values of prenatal screening and non‑invasive gene sequencing in fetal birth defects. Pak J Med Sci. 2020;36(7):1545-1549. doi: https://doi.org/10.12669/pjms.36.7.2290
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.