1. Benn P, Rebarber A. Non-invasive prenatal testing in the management of twin pregnancies. Prenat Diagn. 2021;41(10):1233-40. [DOI:10.1002/pd.5989] [PMID] []

2. Carbone L, Cariati F, Sarno L, Conforti A, Bagnulo F, Strina I, et al. Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges. Genes (Basel). 2020;12(1). [DOI:10.3390/genes12010015] [PMID] []

3. Harraway J. Non-invasive prenatal testing. Aust Fam Physician. 2017;46(10):735-9.

4. Kimelman D, Pavone ME. Non-invasive prenatal testing in the context of IVF and PGT-A. Best Pract Res Clin Obstet Gynaecol. 2021;70:51-62. [DOI:10.1016/j.bpobgyn.2020.07.004] [PMID]

5. Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol. 2013;42(1):15-33. [DOI:10.1002/uog.12513] [PMID]

6. D'Ambrosio V, Squarcella A, Vena F, Di Mascio D, Corno S, Pajno C, et al. Update in non-invasive prenatal testing. Minerva Ginecol. 2019;71(1):44-53. [DOI:10.23736/S0026-4784.18.04306-X] [PMID]

7. Kamath V, Chacko MP, Kamath MS. Non-invasive Prenatal Testing in Pregnancies Following Assisted Reproduction. Curr Genomics. 2022;23(5):326-36. [DOI:10.2174/1389202923666220518095758] [PMID] []

8. Pös O, Budiš J, Szemes T. Recent trends in prenatal genetic screening and testing. F1000Res. 2019;8. [DOI:10.12688/f1000research.16837.1] [PMID] []

9. De Wergifosse S, Bevilacqua E, Mezela I, El Haddad S, Gounongbe C, de Marchin J, et al. Cell-free DNA analysis in maternal blood: comparing genome-wide versus targeted approach as a first-line screening test. The Journal of Maternal-Fetal & Neonatal Medicine. 2021;34(21):3552-61. [DOI:10.1080/14767058.2019.1686478] [PMID]

10. Conotte S, El Kenz H, De Marchin J, Jani JC. Cell-free DNA analysis for noninvasive examination of trisomy: comparing 2 targeted methods. American Journal of Obstetrics & Gynecology. 2022;227(3):539-41. [DOI:10.1016/j.ajog.2022.05.024] [PMID]

11. Gnetetskaya V, Baranova E, Belenikin M, Tarasova YA, Izevskaya V, Kurtser M. Positive and negative predictive values of noninvasive prenatal tests in group of women with high and low risk of the fetal aneuploidies. Medical Genetics. 2018;17(12):30-5.

12. Gil M, Brik M, Casanova C, Martin-Alonso R, Verdejo M, Ramírez E, et al. Screening for trisomies 21 and 18 in a Spanish public hospital: from the combined test to the cell-free DNA test. The Journal of Maternal-Fetal & Neonatal Medicine. 2017;30(20):2476-82. [DOI:10.1080/14767058.2016.1253062] [PMID]

13. Batlle-Masó L, Rivière JG, Franco-Jarava C, Martín-Nalda A, Garcia-Prat M, Parra-Martínez A, et al. Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism. J Clin Immunol. 2023;43(8):1953-63. [DOI:10.1007/s10875-023-01556-x] [PMID]

14. Budkina A, Medvedeva YA, Stupnikov A. Assessing the Differential Methylation Analysis Quality for Microarray and NGS Platforms. Int J Mol Sci. 2023;24(10). [DOI:10.3390/ijms24108591] [PMID] []

15. Kucharík M, Budiš J, Hýblová M, Minárik G, Szemes T. Copy Number Variant Detection with Low-Coverage Whole-Genome Sequencing Represents a Viable Alternative to the Conventional Array-CGH. Diagnostics (Basel). 2021;11(4). [DOI:10.3390/diagnostics11040708] [PMID] []

16. Laczny C, Leidinger P, Haas J, Ludwig N, Backes C, Gerasch A, et al. miRTrail--a comprehensive webserver for analyzing gene and miRNA patterns to enhance the understanding of regulatory mechanisms in diseases. BMC Bioinformatics. 2012;13:36. [DOI:10.1186/1471-2105-13-36] [PMID] []

17. Meller R, Pearson AN, Hardy JJ, Hall CL, McGuire D, Frankel MR, et al. Blood transcriptome changes after stroke in an African American population. Ann Clin Transl Neurol. 2016;3(2):70-81. [DOI:10.1002/acn3.272] [PMID] []

18. Nallamilli BR, Ankala A, Hegde M. Molecular diagnosis of Duchenne muscular dystrophy. Curr Protoc Hum Genet. 2014;83:9.25.1-9. [DOI:10.1002/0471142905.hg0925s83] [PMID]

19. Nallamilli BRR, Hegde M. Detecting APC Gene Mutations in Familial Adenomatous Polyposis (FAP). Curr Protoc Hum Genet. 2017;92:10.8.1-.8.6. [DOI:10.1002/cphg.29] [PMID]

20. Wang X, Li X, Cheng Y, Sun X, Sun X, Self S, et al. Copy number alterations detected by whole-exome and whole-genome sequencing of esophageal adenocarcinoma. Hum Genomics. 2015;9(1):22. [DOI:10.1186/s40246-015-0044-0] [PMID] []

21. Zhao M, Wang Q, Wang Q, Jia P, Zhao Z. Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives. BMC Bioinformatics. 2013;14 Suppl 11(Suppl 11):S1. [DOI:10.1186/1471-2105-14-S11-S1] [PMID] []

22. Singer A, Grinshpun-Cohen J, Sagi-Dain L. [THE RISK FOR CLINICALLY SIGNIFICANT COPY NUMBER VARIANTS IN PREGNANCIES WITH TWO SOFT MARKERS]. Harefuah. 2024;163(6):365-8.

23. Asfour S, Alkharouf A, Sultan Y, Qarawi L, Shraim A, Wael M. Incidental Prenatal Diagnosis of Congenital Inguinal Hernia: A Case Report. Cureus. 2024;16(2):e54356. [DOI:10.7759/cureus.54356]

24. Bellai-Dussault K, Dougan SD, Fell DB, Little J, Meng L, Okun N, et al. Ultrasonographic Fetal Nuchal Translucency Measurements and Cytogenetic Outcomes. JAMA Netw Open. 2024;7(3):e243689. [DOI:10.1001/jamanetworkopen.2024.3689] [PMID] []

25. Bowman-Smart H, Perrot A, Horn R. Supporting patient decision-making in non-invasive prenatal testing: a comparative study of professional values and practices in England and France. BMC Med Ethics. 2024;25(1):34. [DOI:10.1186/s12910-024-01032-0] [PMID] []

26. Kaya M. Postnatal outcome of fetal aberrant right subclavian artery: a single center study. Arch Gynecol Obstet. 2024;310(1):129-33. [DOI:10.1007/s00404-024-07488-0] [PMID]

27. Maymon R, Daniel-Spiegel E, Svirsky R, Melcer Y, Yagel S. [NUCHAL TRANSLUCENCY CONCURRENT WITH EARLY ANOMALY SCAN: TIME TO RECONSIDER]. Harefuah. 2024;163(3):174-80.

28. Chen CP, Wu FT, Pan YT, Wu PS, Lee CC, Chiu CL, et al. Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome. Taiwan J Obstet Gynecol. 2024;63(3):394-7. https://doi.org/10.1016/j.tjog.2024.03.007 https://doi.org/10.1016/j.tjog.2017.04.025 https://doi.org/10.1016/j.tjog.2024.03.006 https://doi.org/10.1016/j.tjog.2011.07.012 [DOI:10.1016/j.tjog.2024.03.008]

29. Chen CP, Wu FT, Pan YT, Wu PS, Lee MS, Chiu CL, et al. Low-level mosaic trisomy 21 at amniocentesis and cordocentesis in the second trimester in a pregnancy associated with positive non-invasive prenatal testing for trisomy 21, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome. Taiwan J Obstet Gynecol. 2024;63(3):391-3. https://doi.org/10.1016/j.tjog.2024.03.006 [DOI:10.1016/j.tjog.2024.03.007] [PMID]

30. Das S, Sharma C, Yadav T, Dubey K, Shekhar S, Singh P, et al. Absent or hypoplastic nasal bone: What to tell the prospective parents? Birth Defects Res. 2024;116(5):e2348. [DOI:10.1002/bdr2.2348] [PMID]

31. Oyelese Y, Schioppo D, O'Brien B. Prenatal Screening and Diagnosis: Time for a Paradigm Shift. Am J Perinatol. 2024. [DOI:10.1055/a-2312-8824] [PMID]

32. Pistorius L, Cluver CA, Bhorat I, Geerts L. Trisomy 21 screening with αlpha software and the Fetal Medicine Foundation algorithm. S Afr Med J. 2023;113(11):27-34. [DOI:10.7196/SAMJ.2023.v113i11.885] [PMID]

33. Huang Y, Sun H, Chen Q, Shen J, Han J, Shan S, et al. Computer-based facial recognition as an assisting diagnostic tool to identify children with Noonan syndrome. BMC Pediatr. 2024;24(1):361. [DOI:10.1186/s12887-024-04827-7] [PMID] []

34. Sebire E, Rodrigo CH, Bhattacharya S, Black M, Wood R, Vieira R. The implementation and impact of non-invasive prenatal testing (NIPT) for Down's syndrome into antenatal screening programmes: A systematic review and meta-analysis. PLoS One. 2024;19(5):e0298643. [DOI:10.1371/journal.pone.0298643] [PMID] []

35. Shaban M, Mollazadeh S, Eslami S, Tara F, Sharif S, Arghavanian FE. Prediction of chromosomal abnormalities in the screening of the first trimester of pregnancy using machine learning methods: a study protocol. Reprod Health. 2024;21(1):101. [DOI:10.1186/s12978-024-01839-5] [PMID] []

36. Santos LG, de Sá RAM, Baião AER, Portari EA, de Avila Frayha A, Gomes Junior SC, et al. Fetal hemodynamics and placental histopathology in Down syndrome. J Clin Ultrasound. 2024. [DOI:10.1002/jcu.23686] [PMID]

37. Willems P, Dierickx H, Vandenakker E, Bekedam D, Segers N, Deboulle K, et al. The first 3,000 non-invasive prenatal tests (NIPT) with the harmony test in Belgium and the Netherlands. Facts, views & vision in ObGyn. 2014;6(1):7.

38. Juneau K, Bogard PE, Huang S, Mohseni M, Wang ET, Ryvkin P, et al. Microarray-based cell-free DNA analysis improves noninvasive prenatal testing. Fetal diagnosis and therapy. 2014;36(4):282-6. [DOI:10.1159/000367626] [PMID]

39. Langlois S, Johnson J, Audibert F, Gekas J, Forest JC, Caron A, et al. Comparison of first‐tier cell‐free DNA screening for common aneuploidies with conventional publically funded screening. Prenatal Diagnosis. 2017;37(12):1238-44. [DOI:10.1002/pd.5174] [PMID]

40. Stokowski R, Wang E, White K, Batey A, Jacobsson B, Brar H, 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. Prenatal diagnosis. 2015;35(12):1243-6. [DOI:10.1002/pd.4686] [PMID] []