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Non-invasive prenatal screening (NIPS) is a highly sensitive and specific screening test to detect fetal chromosomal abnormalities. The primary objective of this study was to evaluate the NIPS as an effective method for prenatal detection of aneuploidies in both high-risk and low-risk pregnancies.In current study, we performed NIPS in 32,394 pregnancies, out of which results were available in 32,361 (99.9%) of them. Illumina sequencing was performed for NIPS screening. Hypothesis Z test was used to classify fetal autosomal aneuploidy of T21, T18, and T13. Karyotyping was performed to determine the true negative and true positive NIPS results.Among the 32,361 confirmed samples, 164 cases had positive results and 32197 cases had negative results. Of these positive cases, 116 cases were trisomy 21, 34 cases were trisomy 18 and 14 cases were trisomy 13. No false negative results were found in this cohort. The overall sensitivity and specificity were 100% and 99.91%, respectively. There was no significant difference in test performance between the 7,316 high-risk and 25,045 low-risk pregnancies, (sensitivity, 100% vs 100% (P0.05); specificity, 99.96% vs 99.95% (P0.05)). Factors contributing to false-positive results included fetal copy number variants (CNVs), fetal mosaicism and typically producing Z scores between 3 and 4. Moreover, we analyzed NIPS wholegenome sequencing to investigate the Single Nucleotide Polymorphisms (SNPs) associations with drug response or risk of disease. As compare to the 1000g East Asian genome data, the results revealed a significant difference in 7,285,418 SNPs variants of Shanxi pregnant women including 19,293 clinvar recorded variants and 7,266,125 non-clinvar recorded.Our findings showed that NIPS was an effective assay that may be applied as routine screening for fetal trisomies in the prenatal setting. In addition, this study also provides an accurate assessment of significant differences in 7,285,418 SNPs variants in Shanxi pregnant women that were previously unavailable to clinicians in Shanxi population.Neinvazivni prenatalni skrining (NIPS) je veoma osetljiv i specifičan skrining test za otkrivanje fetalnih hromozomskih abnormalnosti. Primarni cilj ove studije bio je da se proceni NIPS kao efikasan metod za prenatalno otkrivanje aneuploidije u trudnoćama visokog i niskog rizika.U trenutnoj studiji, NIPS smo uradili u 32.394 trudnoće, od kojih su rezultati bili dostupni u 32.361 (99,9%) trudnoća. Illumina sekvenciranje je izvršeno za NIPS skrining. Z test hipoteze je korišćen za klasifikaciju fetalne autozomne aneuploidije T21, T18 i T13. Kariotipizacija je urađena da bi se utvrdili pravi negativni i istinski pozitivni rezultati NIPS.Među 32.361 potvrđenim uzorkom, 164 slučaja je imalo pozitivne rezultate, a 32.197 slučajeva je imalo negativne rezultate. Od ovih pozitivnih slučajeva, 116 slučajeva je bilo trizomija 21,34 slučaja trizomija 18 i 14 slučajeva trizomija 13. Nisu pronađeni lažno negativni rezultati u ovoj kohorti. Ukupna osetljivost i specifičnost bile su 100% i 99,91%, respektivno. Nije bilo značajne razlike u performansama testa između 7.316 visokorizičnih i 25.045 trudnoća sa niskim rizikom, (osetljivost, 100% naspram 100% (P0,05); specifičnost, 99,96% naspram 99,95% (P0,05)). Faktori koji su doprineli lažno pozitivnim rezultatima uključivali su varijante broja kopija fetusa (CNV), fetalni mozaicizam i tipično stvaranje Z rezultata između 3 i 4. Štaviše, analizirali smo sekvenciranje celog genoma NIPS da bismo istražili povezanost polimorfizama jednog nukleotida (SNP) sa odgovorom na lek. ili rizik od bolesti. U poređenju sa podacima o genomu istočne Azije od 1000 g, rezultati su otkrili značajnu razliku u 7.285.418 varijanti SNP-a kod trudnica u Shanki-u, uključujući 19.293 zabeležene varijante klinvara i 7.266.125 zabeleženih ne-clinvara.Naši nalazi su pokazali da je NIPS bio efikasan test koji se može primeniti kao rutinski skrining za fetalne trisomije u prenatalnom okruženju. Pored toga, ova studija takođe pruža tačnu procenu značajnih razlika u 7.285.418 varijanti SNP-a kod trudnica u Shanki-u koje su ranije bile nedostupne kliničarima u populaciji Shanki-a. |
