Abstract
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.
Highlights
Birth defects mainly refer to congenital diseases such as body structure, function or metabolism abnormality before birth, which is the main cause of infant death and congenital disability in clinic.[1,2] According to statistics, the current incidence of birth defects in China is about 4% ~ 6%
The free DNA fragments in the maternal peripheral plasma were sequenced by a new generation of DNA sequencing technology, and the sequencing results were analyzed for biological information, from which the genetic information of the fetus could be obtained, so as to judge whether the fetus was suffering from chromosomal diseases
The prenatal screening found that pregnant women with low risk value accounted for 65.48% (1650/2520), pregnant women with critical risk value accounted for 15.04% (379/2520), and pregnant women with high risk value accounted for 6.03% (152/2520)
Summary
Birth defects mainly refer to congenital diseases such as body structure, function or metabolism abnormality before birth, which is the main cause of infant death and congenital disability in clinic.[1,2] According to statistics, the current incidence of birth defects in China is about 4% ~ 6%. Pak J Med Sci November - December 2020 Vol 36 No 7 www.pjms.org.pk 1545 years, due to the increase of the birth rate of the second child, the incidence of birth defects has a significant increase trend.[3] Chromosomal disease is the main disease of fetal birth defects, including 13-trisomy syndrome, 18-trisomy syndrome and 21-trisomy syndrome.[4,5]. Noninvasive DNA detection is to sequence the free DNA fragments in maternal peripheral plasma by using a new generation of DNA sequencing technology by extracting the venous blood of pregnant women and analyze the biological information of the sequencing results, from which fetal genetic information can be obtained; the genome coverage rate is as high as 93%
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