A high Z-score might increase the positive predictive value of cell-free noninvasive prenatal testing for singleton-pregnant women

References

• Petersen AK, Cheung SW, Smith JL, et al. Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory. Am J Obstet Gynecol. 2017;217(6):691 e1–e6. doi: 10.1016/j.ajog.2017.10.005.
   PubMed Web of Science ®Google Scholar
• Hu P, Liang D, Chen Y, et al. An enrichment method to increase cell-free fetal DNA fraction and significantly reduce false negatives and test failures for noninvasive prenatal screening: a feasibility study. J Transl Med. 2019;17(1):124. doi: 10.1186/s12967-019-1871-x.
   PubMedGoogle Scholar
• Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;370(9):799–808. doi: 10.1056/NEJMoa1311037.
   PubMed Web of Science ®Google Scholar
• Grace MR, Hardisty E, Green NS, et al. Cell free DNA testing-interpretation of results using an online calculator. Am J Obstet Gynecol. 2015;213(1):30 e1–e4. doi: 10.1016/j.ajog.2015.05.004.
   PubMed Web of Science ®Google Scholar
• Zhang H, Gao Y, Jiang F, et al. Noninvasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. Ultrasound Obstet Gynecol. 2015;45(5):530–538. doi: 10.1002/uog.14792.
   PubMed Web of Science ®Google Scholar
• Meck JM, Kramer Dugan E, Matyakhina L, et al. Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings. Am J Obstet Gynecol. 2015;213(2):214e1–214.e5. doi: 10.1016/j.ajog.2015.04.001.
   Web of Science ®Google Scholar
• Yun SY, Kwon HJ, Goyal A, et al. Noninvasive prenatal testing for fetal chromosomal abnormalities using massively parallel sequencing: clinical experience from 7910 korean pregnancies. OJGen. 2018;08(03):42–53. doi: 10.4236/ojgen.2018.83005.
   Google Scholar
• Junhui W, Ru L, Qiuxia Y, et al. Evaluation of the Z-score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18 and 21 at a single center. Prenat Diagn. 2021;41(6):690–696. doi: 10.1002/pd.5908.
   PubMed Web of Science ®Google Scholar
• Chen Y, Yu Q, Mao X, et al. Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features. Hum Genomics. 2019;13(1):60. doi: 10.1186/s40246-019-0250-2.
   PubMed Web of Science ®Google Scholar
• Lenaerts L, Van Calsteren K, Che H, et al. Pregnant women with confirmed neoplasms should not have noninvasive prenatal testing. Prenat Diagn. 2019;39(12):1162–1165. doi: 10.1002/pd.5544.
   PubMed Web of Science ®Google Scholar
• Strom CM, Anderson B, Tsao D, et al. Improving the positive predictive value of noninvasive prenatal screening (NIPS). PLoS One. 2017;12(3):e0167130. doi: 10.1371/journal.pone.0167130.
   PubMed Web of Science ®Google Scholar
• Hartwig TS, Ambye L, Sorensen S, et al. Discordant noninvasive prenatal testing (NIPT) – a systematic review. Prenat Diagn. 2017;37(6):527–539. doi: 10.1002/pd.5049.
   PubMed Web of Science ®Google Scholar
• Brison N, Neofytou M, Dehaspe L, et al. Predicting fetoplacental chromosomal mosaicism during noninvasive prenatal testing. Prenat Diagn. 2018;38(4):258–266. doi: 10.1002/pd.5223.
   PubMed Web of Science ®Google Scholar
• Sikkema-Raddatz B, Johansson LF, de Boer EN, et al. NIPTRIC: an online tool for clinical interpretation of noninvasive prenatal testing (NIPT) results. Sci Rep. 2016;6:38359. doi: 10.1038/srep38359.
   PubMed Web of Science ®Google Scholar
• Liao C, Yin AH, Peng CF, et al. Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing. Proc Natl Acad Sci USA. 2014;111(20):7415–7420. doi: 10.1073/pnas.1321997111.
   PubMed Web of Science ®Google Scholar
• Yin AH, Peng CF, Zhao X, et al. Noninvasive detection of fetal subchromosomal abnormalities by semiconductor sequencing of maternal plasma DNA. Proc Natl Acad Sci USA. 2015;112(47):14670–14675. doi: 10.1073/pnas.1518151112.
   PubMed Web of Science ®Google Scholar
• Lau TK, Chen F, Pan X, et al. Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing. J Matern Fetal Neonatal Med. 2012;25(8):1370–1374. doi: 10.3109/14767058.2011.635730.
   PubMed Web of Science ®Google Scholar
• Chen L, Wang L, Hu Z, et al. Combining Z-score and maternal copy number variation analysis increases the positive rate and accuracy in noninvasive prenatal testing. Front Genet. 2022;13:887176. doi: 10.3389/fgene.2022.887176.
   PubMed Web of Science ®Google Scholar
• Campbell LJ. Cytogenetic analysis and reporting. Methods Mol Biol. 2011;730:259–268. doi: 10.1007/978-1-61779-074-4_18.
   PubMedGoogle Scholar
• Samura O. Update on noninvasive prenatal testing: a review based on current worldwide research. J Obstet Gynaecol Res. 2020;46(8):1246–1254. doi: 10.1111/jog.14268.
   PubMed Web of Science ®Google Scholar
• Bianchi DW, Chudova D, Sehnert AJ, et al. Noninvasive prenatal testing and incidental detection of occult maternal malignancies. JAMA. 2015;314(2):162–169. doi: 10.1001/jama.2015.7120.
   PubMed Web of Science ®Google Scholar
• Neofytou M, Brison N, Van den Bogaert K, et al. Maternal liver transplant: another cause of discordant fetal sex determination using cell-free DNA. Prenat Diagn. 2018;38(2):148–150. doi: 10.1002/pd.5194.
   PubMed Web of Science ®Google Scholar
• Bevilacqua E, Chen K, Wang Y, et al. Cell-free DNA analysis after reduction in multifetal pregnancy. Ultrasound Obstet Gynecol. 2020;55(1):132–133. doi: 10.1002/uog.20366.
   PubMed Web of Science ®Google Scholar
• Mardy A, Wapner RJ. Confined placental mosaicism and its impact on confirmation of NIPT results. Am J Med Genet C Semin Med Genet. 2016;172(2):118–122. doi: 10.1002/ajmg.c.31505.
   PubMed Web of Science ®Google Scholar
• Hu H, Wang L, Wu J, et al. Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies. Hum Genomics. 2019;13(1):14. doi: 10.1186/s40246-019-0198-2.
   PubMed Web of Science ®Google Scholar
• Van Opstal D, Srebniak MI. Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration. Expert Rev Mol Diagn. 2016;16(5):513–520. doi: 10.1586/14737159.2016.1152890.
   PubMed Web of Science ®Google Scholar
• Snyder MW, Simmons LE, Kitzman JO, et al. Copy-number variation and false positive prenatal aneuploidy screening results. N Engl J Med. 2015;372(17):1639–1645. doi: 10.1056/NEJMoa1408408.
   PubMed Web of Science ®Google Scholar
• Tian Y, Zhang L, Tian W, et al. Analysis of the accuracy of Z-scores of noninvasive prenatal testing for fetal trisomies 13, 18, and 21 that employs the ion proton semiconductor sequencing platform. Mol Cytogenet. 2018;11:49. doi: 10.1186/s13039-018-0397-x.
   PubMed Web of Science ®Google Scholar
• Zhou L, Zhang B, Liu J, et al. The optimal cutoff value of Z-scores enhances the judgment accuracy of noninvasive prenatal screening. Front Genet. 2021;12:690063. doi: 10.3389/fgene.2021.690063.
   PubMed Web of Science ®Google Scholar
• Hu H, Liu H, Peng C, et al. Clinical experience of noninvasive prenatal chromosomal aneuploidy testing in 190,277 patient samples. Curr Mol Med. 2016;16(8):759–766. doi: 10.2174/1566524016666161013142335.
   PubMed Web of Science ®Google Scholar
• Ashoor G, Syngelaki A, Poon LC, et al. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks’ gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol. 2013;41(1):26–32. doi: 10.1002/uog.12331.
   PubMed Web of Science ®Google Scholar
• Wang E, Batey A, Struble C, et al. Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn. 2013;33(7):662–666. doi: 10.1002/pd.4119.
   PubMed Web of Science ®Google Scholar
• American College of O, Gynecologists’ Committee on Practice B-O, Committee on G. Society for maternal-fetal M. Screening for fetal chromosomal abnormalities: ACOG practice bulletin, number 226. Obstet Gynecol. 2020;136(4):e48–e69.
   PubMed Web of Science ®Google Scholar