Value of high throughput sequencing in noninvasive prenatal screening
10.3969/j.issn.1006-5725.2019.03.022
- VernacularTitle:基于高通量测序技术应用于孕期无创产前筛查人群的结果分析
- Author:
Hongsheng YU
1
;
Xijiang HU
Author Information
1. 华中科技大学同济医学院附属武汉儿童医院(武汉市妇幼保健院)优生遗传科
- Keywords:
high throughput gene sequencing;
non-invasive prenatal testing;
prenatal diagnosis
- From:
The Journal of Practical Medicine
2019;35(3):433-436
- CountryChina
- Language:Chinese
-
Abstract:
Objective To assess the clinical value of high throughput seuencing (HTS) in noninvasive prenatal testing (NIPT). Methods The results of NIPT of 2 256 cases of women with singleton pregnancy were retrospectively reviewed. Free fetal DNA in maternal peripheral blood was sequenced using HTS, and bioinformatic analysis techniques. Prenatal diagnosis was performed through amniocentesis when NIPT indicated high risks. High risk results from non-invasive screening of fetal chromosomal and prenatal diagnosis were compared. Results All of the 2, 256 specimens were successfully analyzed and 35 cases were found with fetal chromosomal high risks, with an overall detection rate of 0.58％, including 13 cases with high risk for trisomy 21, 1 with trisomy 18, 1 with trisomy 13, 15 with sex chromosome abnormality and 5 with other chromosomal structures abnormality. All the 34 cases had further prenatal diagnosis except 1 case of pregnant woman with high-risk 13-trisomy who took abortion directly and refused further examination. Among 12 cases with high risk for 21-trisomy, 1 with 18-trisomy, 5 with sex chromosome abnormalities and 1 with the deletion of chromosome, 3 were confirmed by traditional karyotyping and/or single nucleotide polymorphism microarray (SNP-array) technology. The coincidence rate of abnormally high risk results of NIPT detection in fetal chromosomal and prenatal diagnosis were 92.85％, 100％, 33.33％ and 20％respectively. Conclusion There is a relatively high positive coincidence rate when compared HTS for screening of high risk for trisomy 21, 18, 13 aneuploidy and prenatal diagnosis and HTS is reliable. While when it comes to the screening of sex chromosome and other chromosomal structures abnormality, HTS still need to be improved and optimized.
