A comparative study of high-throughput sequencing technology and in situ culture for prenatal diagnosis of amniotic fluid cells
Abstract：Objective To explore the application value of high-throughput sequencing technique(next gener-ation sequencing, NGS) in prenatal diagnosis by using NGS to test fetal free DNA in maternal amniotic fluid.Met h-ods The amniotic fluid samples from 101 pregnant women were collected.Their gestational age was between 18 and 24 weeks and had high risks of Down syndrome and/or fetal abnormalities shown by color Doppler ultrasound.The amniotic fluid samples were drawn from the pregnant women and their amniotic fluid DNAs were extracted for prepar-ing a sequencing library.By using Ion Proton, high-throughput sequencing procedure was carried out.The sequen-cing data were compared with the human reference gene-database and statistically analyzed.Simultaneously, the am-niotic fluid was also collected for the chromosome karyotype analysis which compared with the NGS.Results By NGS, in2 out of 101cases showed chromosomal numerical abnormality , 37 cases of chromosome fragment deletion/duplication. By the standard of chromosomal karyotypic analysis, 2 cases showed chromosomal numerical abnormali-ty, 2 cases showed chromosome9 inversion, 2 cases showed chromosome polymorphism.Conclusion The NGS test-ed for chromosomal numerical abnormality in the maternal amniotic fluid has the same sensitivity and specificity as the chromosome karyotype analysis and can detect micro-deletion/duplication.The combination of chromosome karyotype analysis and high throughput sequencing technology has good clinical application prospects in the detection of birth defects.
Keywords：High-throughput sequencing techniqueAmniotic fluid cellsChromosomeKaryotype a-nalysis
Publication Date：2015-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 1113-1116 )