Focus on the frontier issue: progress in noninvasive prenatal screening for fetal trisomy from clinical perspectives

References

• Parker SE, Mai CT, Canfield MA, National Birth Defects Prevention Network, et al. Updated national birth prevalence estimates for selected birth defects in the United States, 2004–2006. Birth Defects Res A Clin Mol Teratol. 2010;88(12):1008–1016.
   PubMed Web of Science ®Google Scholar
• Sánchez-Pavón E, Mendoza H, García-Ferreyra J. Trisomy 21 and assisted reproductive technologies: a review. JBRA Assist Reprod. 2022;26(1):129–141.
   PubMed Web of Science ®Google Scholar
• Vendola C, Canfield M, Daiger SP, et al. Survival of Texas infants born with trisomies 21, 18, and 13. Am J Med Genet A. 2010;152A(2):360–366.
   PubMed Web of Science ®Google Scholar
• Pont SJ, Robbins JM, Bird TM, et al. Congenital malformations among liveborn infants with trisomies 18 and 13. Am J Med Genet A. 2006;140(16):1749–1756.
   PubMedGoogle Scholar
• Kukora S, Firn J, Laventhal N, et al. Infant with trisomy 18 and hypoplastic left heart syndrome. Pediatrics. 2019;143(5):e20183779.
   PubMed Web of Science ®Google Scholar
• Korenberg JR, Chen XN, Schipper R, et al. Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci USA. 1994;91(11):4997–5001.
   PubMed Web of Science ®Google Scholar
• Chiu RW, Chan KC, Gao Y, et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci USA. 2008;105(51):20458–20463.
   PubMed Web of Science ®Google Scholar
• Tsang J, Lo Y. Human reproductive and prenatal genetics. 1st ed. London (England): Elsevier Academic Press; 2019. Chapter 27, Noninvasive prenatal testing for genetic diseases; p. 597–625.
   Google Scholar
• Rabinowitz T, Shomron N. Genome-wide noninvasive prenatal diagnosis of monogenic disorders: current and future trends. Comput Struct Biotechnol J. 2020;18:2463–2470.
   PubMed Web of Science ®Google Scholar
• Gil MM, Accurti V, Santacruz B, et al. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2017;50(3):302–314.
   PubMed Web of Science ®Google Scholar
• Bedei I, Wolter A, Weber A, et al. Chances and challenges of new genetic screening technologies (NIPT) in prenatal medicine from a clinical perspective: a narrative review. Genes. 2021;12(4):501.
   PubMed Web of Science ®Google Scholar
• Rose NC, Kaimal AJ, Dugoff L, et al. Screening for fetal chromosomal abnormalities: ACOG practice bulletin number 226. Obstet Gynecol. 2020;136(4):e48–e69.
   PubMed Web of Science ®Google Scholar
• Liang D, Cram DS, Tan H, et al. Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes. Genet Med. 2019;21(9):1998–2006.
   PubMed Web of Science ®Google Scholar
• BGI Genomics [Internet]. Shenzhen: BGI Genomics; [cited 2022 May 18]. Available from: https://www.bgi.com/.
   Google Scholar
• Hu H, Liu H, Peng C, et al. Clinical experience of Non-Invasive prenatal chromosomal aneuploidy testing in 190,277 patient samples. Curr Mol Med. 2016;16(8):759–766.
   PubMed Web of Science ®Google Scholar
• Zhang C, He Q, Qiao L, et al. The performance of grey zone in common foetal aneuploidy screening by semiconductor sequencing. J Obstet Gynaecol. 2022;:42(6):1782–1787.
   PubMedGoogle Scholar
• McCullough RM, Almasri EA, Guan X, et al. Non-invasive prenatal chromosomal aneuploidy testing–clinical experience: 100,000 clinical samples. PLOS One. 2014;9(10):e109173.
   PubMed Web of Science ®Google Scholar
• Kinnings SL, Geis JA, Almasri E, et al. Factors affecting levels of circulating cell-free fetal DNA in maternal plasma and their implications for noninvasive prenatal testing. Prenat Diagn. 2015;35(8):816–822.
   PubMed Web of Science ®Google Scholar
• Lefkowitz RB, Tynan JA, Liu T, et al. Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants. Am J Obstet Gynecol. 2016;215(2):227 e1–227 e16.
   PubMed Web of Science ®Google Scholar
• Pertile MD, Flowers N, Vavrek D, et al. Performance of a paired-end sequencing-based noninvasive prenatal screening test in the detection of genome-wide fetal chromosomal anomalies. Clin Chem. 2021;67(9):1210–1219.
   PubMed Web of Science ®Google Scholar
• Stokowski R, Wang E, White K, et al. Clinical performance of non-invasive prenatal testing (NIPT) using targeted cell-free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies. Prenat Diagn. 2015;35(12):1243–1246.
   PubMed Web of Science ®Google Scholar
• Dar P, Jacobsson B, MacPherson C, et al. Cell-free DNA screening for trisomies 21, 18, and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation. Am J Obstet Gynecol. 2022;227(2):259.e1–259.e14.
   PubMed Web of Science ®Google Scholar
• Dahl F, Ericsson O, Karlberg O, et al. Imaging single DNA molecules for high precision NIPT. Sci Rep. 2018;8(1):4549.
   PubMed Web of Science ®Google Scholar
• PerkinElmer Inc [Internet]. Shanghai: PerkinElmer; [cited 2022 May 18]. Available from: https://www.perkinelmer.com.cn/.
   Google Scholar
• Flöck A, Tu NC, Rüland A, et al. Non-invasive prenatal testing (NIPT): Europe’s first multicenter post-market clinical follow-up study validating the quality in clinical routine. Arch Gynecol Obstet. 2017;296(5):923–928.
   PubMed Web of Science ®Google Scholar
• Pertile MD, Halks-Miller M, Flowers N, et al. Rare autosomal trisomies, Revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease. Sci Transl Med. 2017;9(405):eaan1240.
   PubMed Web of Science ®Google Scholar
• Genomic Diagnostics [Internet]. Victoria: Genomic Diagnostics; [cited 2022 May 18]. Available from: https://www.genomicdiagnostics.com.au/.
   Google Scholar
• Kazemi M, Salehi M, Kheirollahi M. MeDIP Real-Time qPCR has the potential for noninvasive prenatal screening of fetal trisomy 21. Int J Mol Cell Med. 2017;6(1):13–21.
   PubMedGoogle Scholar
• Xu C, Wang T, Liu C, et al. Noninvasive prenatal screening of fetal aneuploidy without massively parallel sequencing. Clin Chem. 2017;63(4):861–869.
   PubMed Web of Science ®Google Scholar
• Rhoads GG, Jackson LG, Schlesselman SE, et al. The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med. 1989;320(10):609–617.
   PubMed Web of Science ®Google Scholar
• Yu B, Li H, Chen YP, et al. Clinical evaluation of NIPS for women at advanced maternal age: a multicenter retrospective study. J Matern Fetal Neonatal Med. 2019;32(24):4080–4085.
   PubMed Web of Science ®Google Scholar
• Chen X, Li Y, Huang Q, et al. Segmental duplication as potential biomarkers for non-invasive prenatal testing of aneuploidies. EBioMedicine. 2021;70:103535.
   PubMed Web of Science ®Google Scholar
• Dar P, Shani H, Evans MI. Cell-free DNA: comparison of technologies. Clin Lab Med. 2016;36(2):199–211.
   PubMed Web of Science ®Google Scholar
• Keravnou A, Ioannides M, Loizides C, et al. MeDIP combined with in-solution targeted enrichment followed by NGS: inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT. PLOS One. 2018;13(6):e0199010.
   PubMed Web of Science ®Google Scholar
• Zhang W, Lu S, Pu D, et al. Detection of fetal trisomy and single gene disease by massively parallel sequencing of extracellular vesicle DNA in maternal plasma: a proof-of-concept validation. BMC Med Genomics. 2019;12(1):151.
   PubMed Web of Science ®Google Scholar
• Zhou F, Liu S, Wang H. Noninvasively diagnosing for fetal trisomy 21 by examining heterozygous single nucleotide polymorphisms in the placental specific genes on chromosome 21. Eur J Obstet Gynecol Reprod Biol. 2019;233:19–25.
   PubMed Web of Science ®Google Scholar
• Shan D, Wang H, Khatri P, et al. The urinary peptidome as a noninvasive biomarker development strategy for prenatal screening of Down’s syndrome. OMICS. 2019;23(9):439–447.
   PubMed Web of Science ®Google Scholar
• Bischoff FZ, Sinacori MK, Dang DD, et al. Cell-free fetal DNA and intact fetal cells in maternal blood circulation: implications for first and second trimester non-invasive prenatal diagnosis. Hum Reprod Update. 2002;8(6):493–500.
   PubMed Web of Science ®Google Scholar
• Chen Y, Lai Y, Xu F, et al. The application of expanded noninvasive prenatal screening for genome-wide chromosomal abnormalities and genetic counseling. J Matern Fetal Neonatal Med. 2021;34(16):2710–2716.
   PubMed Web of Science ®Google Scholar
• Borth H, Teubert A, Glaubitz R, et al. Analysis of cell-free DNA in a consecutive series of 13,607 routine cases for the detection of fetal chromosomal aneuploidies in a single center in Germany. Arch Gynecol Obstet. 2021;303(6):1407–1414.
   PubMed Web of Science ®Google Scholar
• Soster E, Boomer T, Hicks S, et al. Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy-number variants. Genet Med. 2021;23(7):1349–1355.
   PubMed Web of Science ®Google Scholar
• Xu L, Huang H, Lin N, et al. Non-invasive cell-free fetal DNA testing for aneuploidy: multicenter study of 31 515 singleton pregnancies in southeastern China. Ultrasound Obstet Gynecol. 2020;55(2):242–247.
   PubMed Web of Science ®Google Scholar
• La Verde M, De Falco L, Torella A, et al. Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies. BMC Med Genomics. 2021;14(1):93.
   PubMed Web of Science ®Google Scholar
• Lai Y, Zhu X, He S, et al. Performance of Cell-Free DNA screening for fetal common aneuploidies and sex chromosomal abnormalities: a prospective study from a less developed autonomous region in mainland China. Genes. 2021;12(4):478.
   PubMed Web of Science ®Google Scholar
• Garshasbi M, Wang Y, Hantoosh Zadeh S, et al. Clinical application of cell-free DNA sequencing-based noninvasive prenatal testing for trisomies 21, 18, 13 and sex chromosome aneuploidy in a mixed-risk population in Iran. Fetal Diagn Ther. 2020;47(3):220–227.
   PubMed Web of Science ®Google Scholar
• Suzumori N, Sekizawa A, Takeda E, et al. Retrospective details of false-positive and false-negative results in non-invasive prenatal testing for fetal trisomies 21, 18 and 13. Eur J Obstet Gynecol Reprod Biol. 2021;256:75–81.
   PubMed Web of Science ®Google Scholar
• Luo Y, Hu H, Jiang L, et al. A retrospective analysis the clinic data and follow-up of non-invasive prenatal test in detection of fetal chromosomal aneuploidy in more than 40,000 cases in a single prenatal diagnosis center. Eur J Med Genet. 2020;63(9):104001.
   PubMed Web of Science ®Google Scholar
• Liu Y, Liu H, He Y, et al. Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China. Hum Genomics. 2020;14(1):21.
   PubMed Web of Science ®Google Scholar
• Tekesin I. Cell-free DNA testing in routine practice: characterisation of a cohort with positive results for trisomies, sex chromosome anomalies and microdeletions. Geburtshilfe Frauenheilkd. 2021;81(1):81–89.
   PubMedGoogle Scholar
• Mesoraca A, Margiotti K, Dello Russo C, et al. Cell-free DNA screening for aneuploidies in 7113 pregnancies: single Italian Centre study. Genet Res. 2020;102:e5.
   Web of Science ®Google Scholar
• Porreco RP, Sekedat M, Bombard A, et al. Evaluation of a novel screening method for fetal aneuploidy using cell-free DNA in maternal plasma. J Med Screen. 2020;27(1):1–8.
   PubMed Web of Science ®Google Scholar
• Bajka A, Bajka M, Chablais F, et al. Audit of the first >7500 noninvasive prenatal aneuploidy tests in a Swiss Genetics Center. Arch Gynecol Obstet. 2022;305(5):1185–1192.
   PubMed Web of Science ®Google Scholar
• Zhao JH, Dai P, Zhu RN, et al. Confirmation and analysis of 2 398 positive results of cell-free fetal DNA. Zhonghua fu Chan ke za Zhi. 2020;55(10):679–684.
   PubMedGoogle Scholar
• Gormus U, Chaubey A, Shenoy S, et al. Assessment and clinical utility of a non-next-generation sequencing-based non-invasive prenatal testing technology. Curr Issues Mol Biol. 2021;43(2):958–964.
   PubMed Web of Science ®Google Scholar
• Guo Q, Xiao L, Zhou Y. Rapid diagnosis of aneuploidy by high-resolution melting analysis of segmental duplications. Clin Chem. 2012;58(6):1019–1025.
   PubMed Web of Science ®Google Scholar
• Papageorgiou EA, Karagrigoriou A, Tsaliki E, et al. Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21. Nat Med. 2011;17(4):510–513.
   PubMed Web of Science ®Google Scholar
• Karami F, Noori-Daloii MR, Omidfar K, et al. Modified methylated DNA immunoprecipitation protocol for noninvasive prenatal diagnosis of down syndrome. J Obstet Gynaecol Res. 2018;44(4):608–613.
   PubMed Web of Science ®Google Scholar
• Lo YM, Tsui NB, Chiu RW, et al. Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nat Med. 2007;13(2):218–223.
   PubMed Web of Science ®Google Scholar
• Lo YMD, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. The Lancet. 1997;350(9076):485–487.
   PubMed Web of Science ®Google Scholar
• Shi J, Zhang R, Li J, et al. Size profile of cell-free DNA: a beacon guiding the practice and innovation of clinical testing. Theranostics. 2020;10(11):4737–4748.
   PubMed Web of Science ®Google Scholar
• Badeau M, Lindsay C, Blais J, et al. Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women. Cochrane Database Syst Rev. 2017;11(11):CD011767.
   PubMed Web of Science ®Google Scholar
• Shi J, Zhang R, Li J, et al. Novel perspectives in fetal biomarker implementation for the noninvasive prenatal testing. Crit Rev Clin Lab Sci. 2019;56(6):374–392.
   PubMed Web of Science ®Google Scholar
• Pos O, Budis J, Szemes T. Recent trends in prenatal genetic screening and testing. F1000Res. 2019;8:764.
   Google Scholar
• Larson N, Larson M, Na J, et al. Coverage profile correction of shallow-depth circulating cell-free DNA sequencing via multidistance learning. Pac Symp Biocomput. 2020;25:599–610.
   PubMedGoogle Scholar
• Bianchi DW, Chiu RWK. Sequencing of circulating cell-free DNA during pregnancy. N Engl J Med. 2018;379(5):464–473.
   PubMed Web of Science ®Google Scholar
• Bevilacqua E, Jani JC, Letourneau A, et al. Cell-Free DNA analysis in maternal blood: differences in estimates between laboratories with different methodologies using a propensity score approach. Fetal Diagn Ther. 2019;45(5):302–311.
   PubMed Web of Science ®Google Scholar
• Sparks AB, Struble CA, Wang ET, et al. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012;206(4):319 e1-9–319.e9.
   PubMed Web of Science ®Google Scholar
• Jensen TJ, Zwiefelhofer T, Tim RC, et al. High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma. PLOS One. 2013;8(3):e57381.
   PubMed Web of Science ®Google Scholar
• Sun X, Lu J, Ma X. An efficient method for noninvasive prenatal diagnosis of fetal trisomy 13, trisomy 18, and trisomy 21. PLOS One. 2019;14(4):e0215368.
   PubMed Web of Science ®Google Scholar
• van Dijk EL, Jaszczyszyn Y, Thermes C. Library preparation methods for next-generation sequencing: tone down the bias. Exp Cell Res. 2014;322(1):12–20.
   PubMed Web of Science ®Google Scholar
• Sparks AB, Wang ET, Struble CA, et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn. 2012;32(1):3–9.
   PubMed Web of Science ®Google Scholar
• Teder H, Paluoja P, Rekker K, et al. Computational framework for targeted high-coverage sequencing based NIPT. PLOS One. 2019;14(7):e0209139.
   PubMed Web of Science ®Google Scholar
• Liao GJ, Lun FM, Zheng YW, et al. Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles. Clin Chem. 2011;57(1):92–101.
   PubMed Web of Science ®Google Scholar
• Grati F, Bajaj K, Simoni G, et al. Human reproductive and prenatal genetics. 1st ed. London (England): Elsevier Academic Press; 2019. Chapter 28, Noninvasive prenatal testing by cell-free DNA: technology, biology, clinical utility, and limitations; p. 627–652.
   Google Scholar
• Zimmermann B, Hill M, Gemelos G, et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn. 2012;32(13):1233–1241.
   PubMed Web of Science ®Google Scholar
• Kim S, Jung H, Han SH, et al. Comparison of two high-throughput semiconductor chip sequencing platforms in noninvasive prenatal testing for Down syndrome in early pregnancy. BMC Med Genomics. 2016;9(1):22.
   PubMedGoogle Scholar
• Fan HC, Blumenfeld YJ, El-Sayed YY, et al. Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy. Am J Obstet Gynecol. 2009;200(5):543 e1-7–543.e7.
   PubMed Web of Science ®Google Scholar
• Lee SY, Kim SJ, Han S-H, et al. A new approach of digital PCR system for non-invasive prenatal screening of trisomy 21. Clin Chim Acta. 2018;476:75–80.
   PubMed Web of Science ®Google Scholar
• Dai P, Yang Y, Zhao G, et al. A dPCR-NIPT assay for detections of trisomies 21, 18 and 13 in a single-tube reaction-could it replace serum biochemical tests as a primary maternal plasma screening tool? J Transl Med. 2022;20(1):269.
   PubMed Web of Science ®Google Scholar
• Kim SY, Lee SM, Kim SM, et al. Novel method of real-time PCR-based screening for common fetal trisomies. BMC Med Genomics. 2021;14(1):195.
   PubMed Web of Science ®Google Scholar
• Huang T, Gibbons C, Rashid S, et al. Prenatal screening for trisomy 21: a comparative performance and cost analysis of different screening strategies. BMC Pregnancy Childbirth. 2020;20(1):713.
   PubMed Web of Science ®Google Scholar
• Pavanello E, Sciarrone A, Guaraldo V, et al. Cell-free DNA screening for fetal aneuploidy using the rolling circle method: a step towards non invasive prenatal testing simplification. Prenat Diagn. 2021;41(13):1694–1700.
   PubMed Web of Science ®Google Scholar
• Curnow K, Sanderson R, Beruti S. Prenatal Diagnosis: Methods in Molecular Biology. New York (NY): Humana Press; 2019. Chapter 22, Noninvasive detection of fetal aneuploidy using next generation sequencing; p. 325–345.
   Google Scholar
• Norton ME, Jacobsson B, Swamy GK, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med. 2015;372(17):1589–1597.
   PubMed Web of Science ®Google Scholar
• Kostenko E, Chantraine F, Vandeweyer K, et al. Clinical and economic impact of adopting noninvasive prenatal testing as a primary screening method for fetal aneuploidies in the general pregnancy population. Fetal Diagn Ther. 2019;45(6):413–423.
   PubMed Web of Science ®Google Scholar
• Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18(10):1056–1065.
   PubMed Web of Science ®Google Scholar
• Bu J, Jiang P, Cui X, et al. Application values of prenatal screening and non-invasive gene sequencing in fetal birth defects. Pak J Med Sci. 2020;36(7):1545–1549.
   PubMed Web of Science ®Google Scholar
• Zheng J, Lu H, Li M, et al. The clinical utility of non-invasive prenatal testing for pregnant women with different diagnostic indications. Front Genet. 2020;11:624.
   PubMed Web of Science ®Google Scholar
• Lee DE, Kim H, Park J, et al. Clinical validation of non-invasive prenatal testing for fetal common aneuploidies in 1,055 Korean pregnant women: a single center experience. J Korean Med Sci. 2019;34(24):e172.
   PubMed Web of Science ®Google Scholar
• Qi QG, Tuo Y, Liu LX, et al. Amniocentesis and next generation sequencing (NGS)-based noninvasive prenatal DNA testing (NIPT) for prenatal diagnosis of fetal chromosomal disorders. Int J Gen Med. 2021;14:1811–1817.
   PubMed Web of Science ®Google Scholar
• Pooh RK, Masuda C, Matsushika R, et al. Clinical validation of fetal cfDNA analysis using rolling-circle-replication and imaging technology in Osaka (CRITO study). Diagnostics. 2021;11(10):1837.
   Web of Science ®Google Scholar
• Bianchi DW, Parker RL, Wentworth J, CARE Study Group, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;370(9):799–808.
   PubMed Web of Science ®Google Scholar
• Gil MM, Galeva S, Jani J, et al. Screening for trisomies by cfDNA testing of maternal blood in twin pregnancy: update of the fetal medicine foundation results and meta-analysis. Ultrasound Obstet Gynecol. 2019;53(6):734–742.
   PubMed Web of Science ®Google Scholar
• Serapinas D, Boreikaitė E, Bartkevičiūtė A, et al. The level of free fetal DNA as precise noninvasive marker for chromosomal aneuploidies: first results from BALTIC region. Medicina. 2020;56(11):579.
   PubMedGoogle Scholar
• Hancock S, Ben-Shachar R, Adusei C, et al. Clinical experience across the fetal-fraction spectrum of a non-invasive prenatal screening approach with low test-failure rate. Ultrasound Obstet Gynecol. 2020;56(3):422–430.
   PubMedGoogle Scholar
• Muzzey D, Goldberg JD, Haverty C. Noninvasive prenatal screening for patients with high body mass index: evaluating the impact of a customized whole genome sequencing workflow on sensitivity and residual risk. Prenat Diagn. 2020;40(3):333–341.
   PubMed Web of Science ®Google Scholar
• Mardy AH, Norton ME. Diagnostic testing after positive results on cell free DNA screening: CVS or amnio? Prenat Diagn. 2021;41(10):1249–1254.
   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.
   PubMed Web of Science ®Google Scholar
• Mohan P, Lemoine J, Trotter C, et al. Clinical experience with non-invasive prenatal screening for single-gene disorders. Ultrasound Obstet Gynecol. 2022;59(1):33–39.
   PubMed Web of Science ®Google Scholar
• Deng C, Cheung SW, Liu H. Noninvasive prenatal screening for fetal sex chromosome aneuploidies. Expert Rev Mol Diagn. 2021;21(4):405–415.
   PubMed Web of Science ®Google Scholar
• Deng C, Zhu Q, Liu S, et al. Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: initial experience in a Chinese hospital. Sci Rep. 2019;9(1):7767.
   PubMed Web of Science ®Google Scholar
• Advani HV, Barrett AN, Evans MI, et al. Challenges in non-invasive prenatal screening for sub-chromosomal copy number variations using cell-free DNA. Prenat Diagn. 2017;37(11):1067–1075.
   PubMed Web of Science ®Google Scholar
• Zaninović L, Bašković M, Ježek D, et al. Validity and utility of non-Invasive prenatal testing for copy number variations and microdeletions: a systematic review. J Clin Med. 2022;11(12):3350.
   PubMed Web of Science ®Google Scholar
• Chitty LS. Advances in the prenatal diagnosis of monogenic disorders. Prenat Diagn. 2018;38(1):3–5.
   PubMed Web of Science ®Google Scholar
• Scotchman E, Chandler NJ, Mellis R, et al. Noninvasive prenatal diagnosis of single-gene diseases: the next frontier. Clin Chem. 2020;66(1):53–60.
   PubMed Web of Science ®Google Scholar
• Lau TK, Chan MK, Lo PS, et al. Clinical utility of noninvasive fetal trisomy (NIFTY) test–early experience. J Matern Fetal Neonatal Med. 2012;25(10):1856–1859.
   PubMed Web of Science ®Google Scholar
• Agarwal A, Sayres LC, Cho MK, et al. Commercial landscape of noninvasive prenatal testing in the United States. Prenat Diagn. 2013;33(6):521–531.
   PubMed Web of Science ®Google Scholar
• Chandrasekharan S, Minear MA, Hung A, et al. Noninvasive prenatal testing goes global. Sci Transl Med. 2014;6(231):231fs15.
   PubMed Web of Science ®Google Scholar
• Ravitsky V, Roy MC, Haidar H, et al. The emergence and global spread of noninvasive prenatal testing. Annu Rev Genomics Hum Genet. 2021;22:309–338.
   PubMed Web of Science ®Google Scholar
• Xu Y, Wei Y, Ming J, et al. Cost-Effectiveness analysis of non-invasive prenatal testing for down syndrome in China. Int J Technol Assess Health Care. 2019;35(3):237–242.
   PubMed Web of Science ®Google Scholar
• Zhu W, Ling X, Shang W, et al. The knowledge, attitude, practices, and satisfaction of non-invasive prenatal testing among Chinese pregnant women under different payment schemes: a comparative study. Int J Environ Res Public Health. 2020;17(19):7187.
   PubMed Web of Science ®Google Scholar
• Gadsbøll K, Petersen OB, Gatinois V, NIPT-Map Study Group, et al. Current use of noninvasive prenatal testing in Europe, Australia and the USA: a graphical presentation. Acta Obstet Gynecol Scand. 2020;99(6):722–730.
   PubMed Web of Science ®Google Scholar
• Benachi A, Caffrey J, Calda P, et al. Understanding attitudes and behaviors towards cell-free DNA-based noninvasive prenatal testing (NIPT): a survey of European health-care providers. Eur J Med Genet. 2020;63(1):103616.
   PubMed Web of Science ®Google Scholar
• Cornell P, Armstrong T, Fyfe R, et al. Experiences of non-invasive prenatal screening: a survey study. Aust N Z J Obstet Gynaecol. 2022;62(2):241–249.
   PubMed Web of Science ®Google Scholar
• Hui L, Hutchinson B, Poulton A, et al. Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy. Genet Med. 2017;19(12):1338–1345.
   PubMed Web of Science ®Google Scholar
• O'Leary P, Maxwell S, Murch A, et al. Prenatal screening for down syndrome in Australia: costs and benefits of current and novel screening strategies. Aust N Z J Obstet Gynaecol. 2013;53(5):425–433.
   PubMed Web of Science ®Google Scholar
• ACOG committee on practice bulletins. ACOG practice bulletin. No77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007;109:217–227.
   PubMedGoogle Scholar
• Benn P, Borrell A, Cuckle H, et al. Prenatal detection of down syndrome using massively parallel sequencing (MPS): a rapid response statement from a committee on behalf of the board of the international society for prenatal diagnosis, 24 october 2011. Prenat Diagn. 2012;32(1):1–2.
   PubMed Web of Science ®Google Scholar
• Cheung SW, Patel A, Leung TY. Accurate description of DNA-based noninvasive prenatal screening. N Engl J Med. 2015;372(17):1675–1677.
   PubMed Web of Science ®Google Scholar
• Devers PL, Cronister A, Ormond KE, et al. Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the national society of genetic counselors. J Genet Couns. 2013;22(3):291–295.
   PubMed Web of Science ®Google Scholar
• The American College of Obstetricians and Gynecologists. Practice bulletin No. 163: Screening for fetal aneuploidy. Obstet Gynecol. 2016;127(5):e123–e137.
   PubMed Web of Science ®Google Scholar
• Cherry AM, Akkari YM, Barr KM, et al. Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2017;19(8):845–850.
   PubMed Web of Science ®Google Scholar
• FDA warns of risks associated with non-invasive prenatal screening tests [Internet]. U.S. Food and Drug Administration. 2022. Apr 19 [cited 2022 May 18]. Available from: https://www.fda.gov/news-events/press-announcements/fda-warns-risks-associated-non-invasive-prenatal-screening-tests
   Google Scholar
• Genetic non-invasive prenatal screening tests may have false results: FDA Safety Communication [Internet]. U.S. Food and Drug Administration. 2022 Apr 19 [cited 2022 May 18]. Available from: https://www.fda.gov/medical-devices/safety-communications/genetic-non-invasive-prenatal-screening-tests-may-have-false-results-fda-safety-communication
   Google Scholar
• Dondorp W, de Wert G, Bombard Y, American Society of Human Genetics, et al. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet. 2015;23(11):1438–1450.
   PubMed Web of Science ®Google Scholar
• Skotko BG, Allyse MA, Bajaj K, et al. Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations. Genet Med. 2019;21(10):2285–2292.
   PubMed Web of Science ®Google Scholar
• Muthuswamy S, Agarwal S. Segmental duplication QF-PCR: a simple and alternative method of rapid aneuploidy testing for developing country like India. J Clin Lab Anal. 2017;31(2):e22038.
   PubMed Web of Science ®Google Scholar
• Lee DE, Kim SY, Lim JH, et al. Non-invasive prenatal testing of trisomy 18 by an epigenetic marker in first trimester maternal plasma. PLOS One. 2013;8(11):e78136.
   PubMed Web of Science ®Google Scholar
• Konečná B, Tóthová Ľ, Repiská G. Exosomes-associated DNA-new marker in pregnancy complications? Int J Mol Sci. 2019;20(12):2890.
   PubMed Web of Science ®Google Scholar
• Pan M, Lu J, Liu Z, et al. Integrity of cell-free DNA in maternal plasma extracellular vesicles as a potential biomarker for non-invasive prenatal testing. Int J Gynaecol Obstet. 2022;158(2):406–417.
   PubMed Web of Science ®Google Scholar
• Poon LL, Leung TN, Lau TK, et al. Presence of fetal RNA in maternal plasma. Clin Chem. 2000;46(11):1832–1834.
   PubMed Web of Science ®Google Scholar
• Ran Y, Chen R, Zhao Y, et al. Presence of cell-free fetal circRNA in maternal plasma. Arch Med Sci. 2022;18(2):540–544.
   PubMed Web of Science ®Google Scholar
• Go AT, van Vugt JM, Oudejans CB. Non-invasive aneuploidy detection using free fetal DNA and RNA in maternal plasma: recent progress and future possibilities. Hum Reprod Update. 2011;17(3):372–382.
   PubMed Web of Science ®Google Scholar
• Gao L, Zhang J, Ran X, et al. Urinary proteomics for noninvasive prenatal screening of trisomy 21: new biomarker candidates. OMICS. 2021;25(11):738–744.
   PubMedGoogle Scholar
• Bourlard L, Manigart Y, Donner C, et al. Rarity of fetal cells in exocervical samples for noninvasive prenatal diagnosis. J Perinat Med. 2021;50(4):476–485.
   PubMed Web of Science ®Google Scholar
• Wei X, Chen K, Guo S, et al. Emerging microfluidic technologies for the detection of circulating tumor cells and fetal nucleated red blood cells. ACS Appl Bio Mater. 2021;4(2):1140–1155.
   PubMedGoogle Scholar
• Ma GC, Lin WH, Huang CE, et al. A silicon-based coral-like nanostructured microfluidics to isolate rare cells in human circulation: validation by SK-BR-3 cancer cell line and its utility in circulating fetal nucleated red blood cells. Micromachines. 2019;10(2):132.
   PubMed Web of Science ®Google Scholar
• Ganesalingam J, An J, Shaw CE, et al. Combination of neurofilament heavy chain and complement C3 as CSF biomarkers for ALS. J Neurochem. 2011;117(3):528–537.
   PubMed Web of Science ®Google Scholar
• Rezvani AR, Storer BE, Storb RF, et al. Decreased serum albumin as a biomarker for severe acute graft-versus-host disease after reduced-intensity allogeneic hematopoietic cell transplantation. Biol Blood Marrow Transplant. 2011;17(11):1594–1601.
   PubMed Web of Science ®Google Scholar
• Minear MA, Lewis C, Pradhan S, et al. Global perspectives on clinical adoption of NIPT. Prenat Diagn. 2015;35(10):959–967.
   PubMed Web of Science ®Google Scholar
• Abel DE, Alagh A. Benefits and limitations of noninvasive prenatal aneuploidy screening. JAAPA. 2020;33(4):49–53.
   PubMedGoogle Scholar
• Jung M, Klotzek S, Lewandowski M, et al. Changes in concentration of DNA in serum and plasma during storage of blood samples. Clin Chem. 2003;49(6 Pt 1):1028–1029.
   PubMed Web of Science ®Google Scholar
• Lee TH, Montalvo L, Chrebtow V, et al. Quantitation of genomic DNA in plasma and serum samples: higher concentrations of genomic DNA found in serum than in plasma. Transfusion. 2001;41(2):276–282.
   PubMed Web of Science ®Google Scholar
• Zhao Y, Li Y, Chen P, et al. Performance comparison of blood collection tubes as liquid biopsy storage system for minimizing cfDNA contamination from genomic DNA. J Clin Lab Anal. 2019;33(2):e22670.
   PubMed Web of Science ®Google Scholar
• Wong D, Moturi S, Angkachatchai V, et al. Optimizing blood collection, transport and storage conditions for cell free DNA increases access to prenatal testing. Clin Biochem. 2013;46(12):1099–1104.
   PubMed Web of Science ®Google Scholar
• Martignano F. Cell-Free DNA: an overview of sample types and isolation procedures. Methods Mol Biol. 2019;1909:13–27.
   PubMedGoogle Scholar
• El Messaoudi S, Rolet F, Mouliere F, et al. Circulating cell free DNA: preanalytical considerations. Clin Chim Acta. 2013;424:222–230.
   PubMed Web of Science ®Google Scholar
• Zhang R, Ding J, Gao P, et al. Generation of highly biomimetic quality control materials for noninvasive prenatal testing based on enzymatic digestion of matched mother-child cell lines. Clin Chem. 2019;65(6):761–770.
   PubMed Web of Science ®Google Scholar
• Qu S, Zhang Y, Yang X, et al. The setup and application of reference material in sequencing-based noninvasive prenatal testing. Gynecol Obstet Invest. 2021;86(1–2):123–131.
   PubMed Web of Science ®Google Scholar
• Blais J, Giroux S, Caron A, et al. Development of reference materials for noninvasive prenatal aneuploidy testing by massively parallel sequencing: a proof-of-concept study. J Appl Lab Med. 2019;4(1):50–60.
   PubMedGoogle Scholar
• Zhang R, Zhang H, Li Y, et al. External quality assessment for detection of fetal trisomy 21, 18, and 13 by massively parallel sequencing in clinical laboratories. J Mol Diagn. 2016;18(2):244–252.
   PubMed Web of Science ®Google Scholar
• Shi J, Tan P, Han D, et al. Non-invasive prenatal screening for foetal trisomy: an assessment of reliability and reporting. Clin Biochem. 2022;100:71–77.
   PubMed Web of Science ®Google Scholar
• Futch T, Spinosa J, Bhatt S, et al. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn. 2013;33(6):569–574.
   PubMed Web of Science ®Google Scholar
• Kater-Kuipers A, de Beaufort ID, Galjaard RH, et al. Rethinking counselling in prenatal screening: an ethical analysis of informed consent in the context of non-invasive prenatal testing (NIPT). Bioethics. 2020;34(7):671–678.
   PubMed Web of Science ®Google Scholar
• Lopes JL, Lopes GS, Enninga EAL, et al. Most noninvasive prenatal screens failing due to inadequate fetal cell free DNA are negative for trisomy when repeated. Prenat Diagn. 2020;40(7):831–837.
   PubMed Web of Science ®Google Scholar
• Kong X, Li L, Sun L, et al. Rapid diagnosis of aneuploidy using segmental duplication quantitative fluorescent PCR. PLOS One. 2014;9(3):e88932.
   PubMed Web of Science ®Google Scholar
• Zhang L, Wang CM, Zhou WP, et al. Dynamic changes of Fetal-Derived hypermethylated RASSF1A and septin 9 sequences in maternal plasma. Reprod Sci. 2021;28(4):1194–1199.
   PubMed Web of Science ®Google Scholar
• Urabe F, Kosaka N, Ito K, et al. Extracellular vesicles as biomarkers and therapeutic targets for cancer. Am J Physiol Cell Physiol. 2020;318(1):C29–c39.
   PubMed Web of Science ®Google Scholar
• Shah R, Patel T, Freedman JE. Circulating extracellular vesicles in human disease. N Engl J Med. 2018;379(10):958–966.
   PubMed Web of Science ®Google Scholar
• Deans ZC, Allen S, Jenkins L, et al. Recommended practice for laboratory reporting of non-invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion. Prenat Diagn. 2017;37(7):699–704.
   PubMed Web of Science ®Google Scholar
• Harraway J. Non-invasive prenatal testing. Aust Fam Physician. 2017;46(10):735–739.
   PubMedGoogle Scholar
• Committee opinion no. 693: counseling about genetic testing and communication of genetic test results. Obstet Gynecol. 2017;129:e96–e101.
   PubMed Web of Science ®Google Scholar