|
|
|
| Application effect of the new generation high-throughput sequencing in the detection of prenatal fetal copy number variations |
| Nanning Maternal and Child Health Care Hospital, Nanning, Guangxi Zhuang Autonomous Region; 530011 |
|
|
|
|
Abstract To compare the application value of high-throughput sequencing and B-ultrasonography in the detection of prenatal fetal copy number variations (CNVs). Methods: The pregnant women with fetal structural abnormalities or with abnormal soft indicators by prenatal B-ultrasonography during the second trimester of pregnancy from January 2020 to December 2021 were selected in this study. The amniotic fluid and umbilical cord blood samples of the abnormal fetuses screened by B-ultrasonography were collected for detection by high-throughput sequencing technology combined with chromosome karyotype technology. Results: There were 2187 amniotic fluid samples were obtained from the fetuses, including 529 (24.2%) fetuses with abnormal structure by ultrasound and 1658 (75.8%) fetuses with abnormal soft indexes found by ultrasound. There were 325 cord blood samples were obtained from the fetuses, including 22 (6.8%) fetuses with abnormal structure by ultrasound and 303 (93.2%) fetuses with abnormal soft indicators detected by ultrasound. The abnormal rate (10.0%) of abnormal fetal chromosome karyotype detection in the amniotic fluid samples of the fetuses with abnormal B-ultrasound results was significantly lower than that (22.1%) of CNVs detection, and the abnormal rate (6.8%) of abnormal fetal chromosome karyotype detection in cord blood samples of the fetuses with abnormal B-ultrasound results was significantly lower than that (25.2%) of CNVs detection. In the amniotic fluid samples, the sensitivity and the specificity of CNVs for detecting the fetuses with abnormal chromosome karyotype were 99.5% and 100.0% (1/1), and the sensitivity and the specificity of CNVs for detecting the fetuses with normal chromosome karyotype were 99.9% (1961/1964) and 100.0% (5/5). In the cord blood samples, the sensitivity and the specificity of CNVs for detecting the fetuses with abnormal chromosome karyotype were 95.5% and 100.0% (4/4), and the sensitivity and the specificity of CNVs for detecting the fetuses with normal chromosome karyotype were 95.7% and 100.0% (4/4). Conclusion: The abnormal rate of the prenatal detection by high-throughput sequencing technology of CNVs for the abnormal fetuses screened by B-ultrasound is higher than that of the chromosome karyotype technology. The highthroughput sequencing technology of CNVs improves the prenatal diagnosis level to a certain extent, and which can be better used as the supplement to the prenatal chromosome karyotype analysis technology.
|
|
|
|
|
|
|
|
|
