‘Centrale’ indicatore dicotomico S/N
x Implementare linee-guida intervento
‘Regionale’
Recepimento regionale
Linee-guida:
indicatore dicotomico S/N
Bibliografia
1. ACOG Committee Opinion. Update on Carrier screening for cystic fibrosis. N.486, April 2011
2. Zlotogora et al. Population programs for the detection of couples at risk for severe monogenic genetic
diseases Hum Genet (2009) 126:247–253
3. Abeliovich, D. et al. Cystic fibrosis heterozygote screening in the orthodox community of Ashkenazi
Jews: the Dor Yeshorim approach and heterozygote frequency. European Journal of Human Genetics
(1996) 4, 77–82
4. Castellani C et al. Association Between Carrier Screening and Incidence of Cystic Fibrosis JAMA.
2009;302(23):2573-2579
5. Hale JE, Parad RB, Comeau AM. Newborn screening showing decreasing incidence of cystic fibrosis.
N Engl J Med. 2008;358(9):973-974
6. Larson JL et al. Validation of a high resolution NGS method for detecting spinal muscular atrophy
carriers among phase 3 participants in the 1000 Genomes Project. BMC Med Genet. 2015 Oct
29;16:100
7. Wei X et al. Targeted next-generation sequencing as a comprehensive test for patients with and
female carriers of DMD/BMD: a multi-population diagnostic study. Eur J Hum Genet. 2014
Jan;22(1):110-8
8. Morinière V et al. Improving mutation screening in familial hematuric nephropathies through next
generation sequencing. J Am Soc Nephrol. 2014 Dec;25(12):2740-51.
9. Bell CJ et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing.
Sci Transl Med. 2011 Jan 12;3(65):65ra4
10. Documento Tecnico di Indirizzo per ridurre il carico di malattia del Cancro. Intesa Stato-Regioni del
30/10/14
11. http://www.snlg-iss.it
12. Definizione di PDTA. http://www.salute.gov.it/imgs/c_17_pubblicazioni_1572_allegato.pdf
13. Nicolaides KH et al. First-trimester contingent screening for trisomies 21, 18 and 13 by biomarkers and
maternal blood cell-free DNA testing. Fetal Diagn Ther. 2014;35(3):185-92
14. Gil MM et al. Analysis of Cell-Free DNA in Maternal Blood in Screening for Aneuploidies:
Meta-Analysis. Fetal Diagn Ther. 2014;35:156–173. Gil MM, Quezada MS, Revello R, Akolekar E,
Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated
meta-analysis. Ulstrasound Obstet Gynecol. 2015; 45:249-266
15. Huang X et al. Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of
maternal plasma DNA in twin pregnancies. Prenat Diagn. 2014;34(4):335-340
16. Bevilacqua E et al. Performance of screening for aneuploidies by cell-free DNA analysis of maternal
blood in twin pregnancies. Ultrasound Obstet Gynecol. 2015;45(1):61-66
17. Chitty LS et al. New aids for non-invasive prenatal diagnosis of achondroplasia : dysmorphic features,
charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma.
Ultrasound Obstet Gynecol. 2011; 37:283-289
18. Chitty LS et al. Safer, accurate prenatal diagnosis of thanatophoric dysplasia using ultrasound and cell
free fetal DNA. Prenat Diagn 2013;33:416-423
19. Lench N et al. The clinical implementation of noninvasive prenatal diagnosis for single gene disorders:
challenges and progress made. Prenat Diagn. 2013;33:555-562.
20. Everett TR, Chitty LS. Cell-free fetal DNA: The new tool in fetal medicine. Ultrasound in Obst Gynecol
2015;45:499-507
21. Linee Guida Ministero della Salute.
http://www.salute.gov.it/imgs/C_17_pubblicazioni_2381_allegato.pdf
22. Carss KJ et al. Exome sequencing improves genetic diagnosis of structural fetal abnormalities
revealed by ultrasound. Hum Mol Genet. 2014 Jun 15; 23(12):3269-77
23. Mucciolo M et al. Next Generation Sequencing Approach in a Prenatal Case of
Cardio-Facio-Cutaneus Syndrome. Int J Mol Sci. 2016 Jun 16;17(6)
24. Zhen L et al. Prenatal DNA diagnosis of Noonan syndrome in a fetus with increased nuchal
translucency using next-generation sequencing. Eur J Obstet Gynecol Reprod Biol. 2016
Jun;201:229-30
25. http://www.ncbi.nlm.nih.gov/omim
26. Hollegaard et al. Archived neonatal dried blood spot samples can be used for accurate whole genome
and exome-targeted next-generation sequencing. Molecular genetics and metabolism, 2013
27. Poulsen et al. High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood
Spot DNA. Plos One, 2016
28. Bodian et al. Utility of whole-genome sequencing for detection of newborn screening disorders in a
population cohort of 1,696 neonates. Genetics in medicine, 2016
29. Botkin, Rothwel. Whole Genome Sequencing and Newborn Screening. Ethics in Medical Genetics,
2016
30. Francescatto, Katsanis. Newborn screening and the era of medical genomics. Seminars in
Perinatology, 2015
31. Frankel, Pereira, McGuire. Potential Psychosocial Risks of Sequencing Newborns. Pediatrics, 2015
32. Howard et al, endorsed by the European Society of Human Genetics. Whole-genome sequencing in
newborn screening? A statement on the continued importance of targeted approaches in newborn
screening programmes. European Journal of Human Genetics, 2015
33. Joseph et al. Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing.
Pediatrics, 2015
34. Landau et al. Genomics in Newborn Screening. The journal of paediatrics, 2013
35. Lefterova et al. Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis.
The journal of molecular diagnostics, 2015
36. Lewis et al. Supporting Parental Decisions About Genomic Sequencing for Newborn Screening: The
NC NEXUS Decision Aid. Pediatrics, 2016
37. Lim et al. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of
congenital disorders in pediatric patients. Human genomics, 2015
38. Waisbren et al. Psychosocial Factors Influencing Parental Interest in Genomic Sequencing of
newborns. Pediatrics, 2016
39. Wheeler et al. The complete genome of an individual by massively parallel DNA sequencing. Nature.
2008 Apr 17;452(7189):872-6
40. Levy et al. The diploid genome sequence of an individual human. PLoS Biol. 2007 Sep 4;5(10):e254
41. Jun Wang et al. The diploid genome sequence of an Asian individual. Nature 456, 60-65 (6 November
2008)
42. Choi JK, Kim SC. Environmental effects on gene expression phenotype have regional biases in the
human genome. Genetics. 2007 Apr;175(4):1607-13
43. Golbus et al. Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.
Circ Cardiovasc Genet. 2014 Dec;7(6):751-9
44. C J Carroll et al. Next-generation sequencing for mitochondrial disorders. Br J Pharmacol. 2014 Apr;
171(8): 1837–1853.
45. Desmond et al. Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian
Cancer Risk Assessment. JAMA Oncol. 2015 Oct;1(7):943-512015
46. Kapoor NS et al. Multigene Panel Testing Detects Equal Rates of Pathogenic BRCA1/2 Mutations and
has a Higher Diagnostic Yield Compared to Limited BRCA1/2 Analysis Alone in Patients at Risk for
Hereditary Breast Cancer. Ann Surg Oncol. 2015 Oct;22(10):3282-8
47. Bonnefond et al. Whole-Exome Sequencing and High Throughput Genotyping Identified
KCNJ11
as
Nel documento
All. sub A)
(pagine 66-69)