Enrichment of fetal and maternal long cell-free DNA fragments from maternal plasma following DNA repair
Publication in refereed journal

替代計量分析
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其它資訊
摘要Objective
Cell‐free DNA (cfDNA) fragments in maternal plasma contain DNA damage and may negatively impact the sensitivity of noninvasive prenatal testing (NIPT). However, some of these DNA damages are potentially reparable. We aimed to recover these damaged cfDNA molecules using PreCR DNA repair mix.

Methods
cfDNA was extracted from 20 maternal plasma samples and was repaired and sequenced by the Illumina platform. Size profiles and fetal DNA fraction changes of repaired samples were characterized. Targeted sequencing of chromosome Y sequences was used to enrich fetal cfDNA molecules following repair. Single‐molecule real‐time (SMRT) sequencing platform was employed to characterize long (>250 bp) cfDNA molecules. NIPT of five trisomy 21 samples was performed.

Results
Size profiles of repaired libraries were altered, with significantly increased long (>250 bp) cfDNA molecules. Single nucleotide polymorphism (SNP)‐based analyses showed that both fetal‐ and maternal‐derived cfDNA molecules were enriched by the repair. Fetal DNA fractions in maternal plasma showed a small but consistent (4.8%) increase, which were contributed by a higher increment of long fetal cfDNA molecules. z‐score values were improved in NIPT of all trisomy 21 samples.

Conclusion
Plasma DNA repair recovers and enriches long cfDNA molecules of both fetal and maternal origins in maternal plasma.
著者Vong JSL, Jiang P, Cheng SH, Lee WS, Tsang JCH, Leung TY, Chan KCA, Chiu RWK, Lo YMD
期刊名稱Prenatal Diagnosis
出版年份2019
月份1
卷號39
期次2
頁次88 - 99
國際標準期刊號0197-3851
電子國際標準期刊號1097-0223
語言英式英語

上次更新時間 2020-09-07 於 02:52