Bibliografia scientifica.

Gli studi su protocolli diversi non costituiscono, da soli, la validazione del protocollo commerciale Altamedica. Fonti web consultate il 6 ottobre 2026.

1. 1. Lo YMD, Chan KCA, Sun H, et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med. 2010;2(61):61ra91.
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2. 2. Kitzman JO, Snyder MW, Ventura M, et al. Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med. 2012;4(137):137ra76.
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3. 3. Chan KCA, Jiang P, Sun K, et al. Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends. Proc Natl Acad Sci USA. 2016;113(50):E8159–E8168.
   doi.org/10.1073/pnas.1615800113
4. 4. Chan KCA, Zhang J, Hui ABY, et al. Size distributions of maternal and fetal DNA in maternal plasma. Clin Chem. 2004;50(1):88–92.
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5. 5. Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Analysis of the size distributions of fetal and maternal cell-free DNA by paired-end sequencing. Clin Chem. 2010;56(8):1279–1286.
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6. 6. 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 non-invasive prenatal screening: a feasibility study. J Transl Med. 2019;17:124.
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7. 7. Qiao L, Yu B, Liang Y, et al. Sequencing shorter cfDNA fragments improves the fetal DNA fraction in noninvasive prenatal testing. Am J Obstet Gynecol. 2019;221(4):345.e1–345.e11.
   pubmed.ncbi.nlm.nih.gov/31125545/
8. 8. Drmanac R, Sparks AB, Callow MJ, et al. Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science. 2010;327(5961):78–81.
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9. 9. Dello Russo C, Cesta A, Longo S, et al. Validation of Extensive Next-Generation Sequencing Method for Monogenic Disorder Analysis on Cell-Free Fetal DNA: Noninvasive Prenatal Diagnosis. J Mol Diagn. 2019;21(4):572–579.
   doi.org/10.1016/j.jmoldx.2019.02.010
10. 10. Brand H, Whelan CW, Duyzend M, et al. High-Resolution and Noninvasive Fetal Exome Screening. N Engl J Med. 2023;389(21):2014–2016.
    doi.org/10.1056/NEJMc2216144
11. 11. Whelan CW; gruppo Talkowski. Transforming Prenatal Diagnostics: Noninvasive Fetal Exome Sequencing. ESHG 2026, Göteborg; abstract PL3.3. Dati del comunicato ufficiale ESHG del 13 giugno 2026: 565 gravidanze; 97,2% delle varianti clinicamente rilevanti. Comunicazione congressuale, distinta da un articolo completo.
    www.eshg.org/news-home/for-media/2026-press-releases
12. 12. Hou Y, Yang J, Qi Y, et al. Factors affecting cell-free DNA fetal fraction: statistical analysis of 13,661 maternal plasmas for non-invasive prenatal screening. Hum Genomics. 2019;13:62.
    doi.org/10.1186/s40246-019-0244-0
13. 13. Hestand MS, Bessem M, van Rijn P, et al. Fetal fraction evaluation in non-invasive prenatal screening (NIPS). Eur J Hum Genet. 2019;27:198–202.
    doi.org/10.1038/s41431-018-0271-7
14. 14. Kalousek DK, Dill FJ. Chromosomal mosaicism confined to the placenta in human conceptions. Science. 1983;221(4611):665–667.
    doi.org/10.1126/science.6867735
15. 15. Winerdal M, Westenius E, Granfors M, Pettersson M, Iwarsson E. Confined placental mosaicism of Duchenne muscular dystrophy: a case report. Mol Cytogenet. 2020;13:51.
    doi.org/10.1186/s13039-020-00520-3
16. 16. Raymond YC, Fernando S, Menezes M, et al. Repeat cell-free DNA screening after initial false-positive results and term placental analysis for confined mosaicism: a prospective cohort study. Arch Gynecol Obstet. 2025;312(5):1679–1687.
    doi.org/10.1007/s00404-025-08162-9
17. 17. Mellis R, Oprych K, Scotchman E, Hill M, Chitty LS. Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: a systematic review and meta-analysis. Prenat Diagn. 2022;42(6):662–685.
    doi.org/10.1002/pd.6115
18. 18. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the ACMG and AMP. Genet Med. 2015;17(5):405–424.
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19. 19. Society for Maternal-Fetal Medicine; Rink BD, Dugoff L, Kuller JA; SMFM Publications Committee. Consult Series #74: Cell-free DNA screening for aneuploidies: Updated guidance. Pregnancy. 2025;1(6):e70139.
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20. 20. American College of Obstetricians and Gynecologists. Cell-free DNA to Screen for Single-Gene Disorders. Practice Advisory. Febbraio 2019; riaffermato settembre 2024.
    www.acog.org/clinical/clinical-guidance/practice-advisory/articles/2019/02/cell-free-dna-to-screen-for-single-gene-disorders
21. 21. Deans ZC, Basel Salmon L, Choy KW, et al. Global Recommendations for the Use of Diagnostic Genomic Sequencing in the Prenatal Setting on Behalf of the ESHG and ISPD. Prenat Diagn. Pubblicato online il 15 settembre 2026. Il documento riguarda il sequenziamento diagnostico su campioni invasivi.
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