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| Application of high-throughput sequencing technology in noninvasive prenatal detection of fetal chromosomal deletion and duplication |
| Henan Women and Children Hospital Care Hospital (The Third Affiliated Hospital of Zhengzhou University), Zhengzhou, Henan Province, 450052 |
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Abstract Objective: To investigate the application effect of high-throughput sequencing technology in noninvasive prenatal detection of fetal chromosomal deletion and duplication. Methods: 5170 pregnant women with natural conception and single fetus were selected in the study from August 2016 to August 2018. The noninvasive prenatal detection were performed in all the included women at 12-22 gestational weeks for screening their fetal chromosomal abnormalities. Among them, the women with high risk of fetal chromosomal deletion and duplication were accepted prenatal genetic counseling and the chromosome karyotype analysis and microarray detection of amniotic fluid cell culture were further performed at 18 -24 gestational weeks after informed consent by pregnant women and their families. The coincidence rate of noninvasive prenatal fetal chromosome detection with chromosome karyotype and microarray analysis results were conducted. Results: There were 27 cases of autosomal duplication and deletion and 12 cases of sexual chromosomal abnormalities detected by noninvasive prenatal testing from the 5170 pregnant women. The 27 women with fetal autosomal deletion and duplication had received amniocentesis chromosome karyotype and microarray analysis, and 11 (33.3%) women with fetal chromosomal abnormalities were confirmed, which included 9 cases consistent with the results of chromosomal microarray, and 2 cases with polymorphism. 11 of the 12 cases with fetal sexual chromosomal abnormalities by noninvasive prenatal examination had received amniocentesis chromosome karyotype and microarray analysis, and 7 cases were confirmed by chromosomal microarray, which coincidence rate was 63.64%. Conclusion: Noninvasive prenatal DNA detection by high-throughput generation sequencing technology has some clinical value in screening fetus chromosomal deletion and duplication. However, the clinical coincidence rate of chromosomal deletion and duplication and sexual chromosomal abnormalities is not very high, so it is necessary of the invasive chromosomal karyotype and microarray analysis for pregnant women with high risk of chromosomal abnormalities by noninvasive prenatal DNA detection.
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