References
- Metcalfe SA. Carrier screening in preconception consultation inprimary care. J Community Genet 2012;3:193–203
- Rare diseases act of 2002. PUBLIC LAW 107–280—Nov 6, 2002
- Maruotti GM, Frisso G, Calcagno G, et al. Prenatal diagnosis of inherited diseases: 20 years’ experience o fan Italian Regional Reference Center. Clin Chem Lab Med 2013;11:1–7
- Moi P, Paglietti E, Sanna A, et al. Delineation of the molecular basis of delta- and normal HbA2 beta-thalassemia. Blood 1988;72:530–3
- Muller F, Simon-Bouy B, Girodon E, et al. Predicting the risk of cystic fibrosis with abnormal ultrasoud signs of fetal bowel. Results of a french molecular collaborative study based on 641 prospective cases. Am J Med Genet 2002;110:109–15
- Genetic Testing for Cystic Fibrosis. NIH Consens Statement Online 1997;15:1–37
- American College of Obstetricians and Gynecologists, and American College of Medical Genetics Preconception and prenatal carrier screening for cystic fibrosis. Clinical and Laboratory Guidelines. American College of Obstetricians and Gynecologists; Washington, DC; 2001
- Castaldo G, Rippa E, Sebastio G, et al. Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implication in screening for the disease and phenotype characterization for patient with CFTR homozygote mutations. Clin Chem 1999;45:957–62
- Denayer L, Welkenhuysen M, Evers-Kiebooms M, et al. Risk perception after CF carrier testing and impact of the test result on reproductive decision making. Am J Med Genet 1997;69:422–6
- Martinelli P, Maruotti GM, Pasquali D, et al. Genetic prenatal RET testing and pregnancy management of multiple andocrine neoplasia Type II A (MEN2A): a case report. J Endocrinol Invest 2004;27:357–60
- D’Amico A, Mercuri E, Tiziano FD, et al. Spinal Muscular Atrophy. Orphanet J Rare Dis 2011;6:71
- Novak MJ, Tabrizi SJ. Huntingtons disease. BMJ 2010;340:c3109
- Duncan RE, Foddy B, Delatycki MB. Refusing to provide a prenatal test: Can it ever be ethical? BMJ 2006;333:1066–8