Journal
SCIENTIFIC REPORTS
Volume 8, Issue -, Pages -Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/s41598-018-35738-0
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Funding
- Science and Technology Enterprise Incubation Program of Jiangsu Province [BSSW2016001]
- National Science Foundation of Jiangsu Province [BK20170400]
- Suzhou Science and Technology Program [CYTS2016111]
- Suzhou Key Medical Centre [SZZX201505]
- Jiangsu Provincial Medical Innovation Team [CXTDB2017013]
- Suzhou Clinical Medical Expert Team [SZYJTD201708]
- Jiangsu Maternal and Children health care key discipline [FXK201748]
- Jiangsu Maternal and Children health care research project [F201603]
- Suzhou Science and Technology Supporting Program [SYS201649]
- National Basic Research Program of China 973 [2013CB966802, 2012CB721005]
- National Science Foundation of China [31770070, 21377085]
- MOE New Century Excellent Talents in University [12-0354]
- SJTU Med-X Foundation [YG2016MS33]
- SJTU-HPC computing facility award
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Measurement of cell-free fetal DNA (cffDNA) is an indispensable process for non-invasive prenatal screening (NIPS). According to recent studies, cffDNA in maternal plasma can be enriched for various lengths of fragments, and a sufficient amount of cffDNA can effectively eliminate background interference on the part of maternal DNA. Therefore, we developed a simple and effective separation method, improved NIPS (iNIPS), that enriches the fetal fraction and improves the accuracy of NIPS for fetal aneuploid detection. We adopted a novel strategy to achieve enrichment of 125-135 bp cell-free DNA (cfDNA) by e-gel electrophoresis. To evaluate clinical performance, we compared NIPS and iNIPS results from 2153 retrospective clinical samples. Of the 22 samples with NIPS results of no call, 17 samples were reclassified as unaffected (9 cases of chr13, 5 cases of chr18, and 3 cases of chr21); 2 samples remained classified as no call (1 case of chr18 and 1 case of chr21); and 3 samples were identified as T21 by iNIPS. The average increase in abundance of cfDNA fragments of 125-135 bp was 2.5 times, and the average decrease in maternal background interference was 1.3 times. On this basis, the detection of fetal aneuploidy was highly improved with the fetal fraction as low as 2%; iNIPS achieved 100% sensitivity and 99.90% specificity in retrospective samples.
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