References
- Kasper CK, Lin JC. Prevalence of sporadic and familial haemophilia. Haemophilia 2007; 13: 90-2.
- Mårtensson A, Ivarsson S, Letelier A, et al Origin of mutation in sporadic cases of severe haemophilia A in Sweden. Clin Genet 2016; 90: 63-8. doi: 10.1111/cge.
- Kling S, Ljung R, Sjörin E, et al Origin of mutation in sporadic cases of haemophilia-B. Eur J Haematol 1992; 48: 142-5.
- Leebeek FWG, Eikenboom JCJ. Von Willebrand's disease. N Engl J Med 2017; 376: 701-2. doi: 10.1056/NEJMc1616060.
- Leebeek FW, Eikenboom JC. Von Willebrand's disease. N Engl J Med 2016; 375 :2067-2080. doi: 10.1056/NEJMra1601561.
- Veyradier A, Boisseau P, Fressinaud E, et al A laboratory phenotype/genotype correlation of 1167 French patients from 670 families with von Willebrand disease: a new epidemiologic picture. Medicine (Baltimore) 2016; 95: e3038. doi: 10.1097/MD.0000000000003038.
- Flood VH, Christopherson PA, Gill JC, et al Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States. Blood 2016; 127: 2481-8. doi: 10.1182/blood-2015-10-673681.
- Boender J, Eikenboom J, van der Bom JG, et al Clinically relevant differences between assays for von Willebrand factor activity. J Thromb Haemost 2018; 16: 2413-24. doi: 10.1111/jth.14319.
- Atiq F, Meijer K, Eikenboom J, et al Comorbidities associated with higher von Willebrand factor (VWF) levels may explain the age-related increase of VWF in von Willebrand disease. Br J Haematol 2018; 182: 93-105.
- Lavin M, Aguila S, Schneppenheim S, et al Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels. Blood 2017; 130: 2344-53. doi: 10.1182/ blood-2017-05-786699.
- de Wee EM, Sanders YV, Mauser-Bunschoten EP, et al Determinants of bleeding phenotype in adult patients with moderate or severe von Willebrand disease. Thromb Haemost 2012; 108: 683-92.
- Kadir RA, Sabin CA, Goldman E, et al Reproductive choices of women in families with haemophilia. Haemophilia 2000; 6: 33-40.
- Tedgård U, Ljung R, McNeil TF. Reproductive choices of haemophilia carriers. Br J Haematol 1999; 106: 421-6.
- Solomon G, Greenberg J, Futter M, et al Understanding of genetic inheritance among Xhosa-speaking caretakers of children with hemophilia. J Genet Couns 2012; 21: 726-40. doi: 10.1007/s10897-012-9495-9.
- Gillham A, Greyling B, Wessels TM, et al Uptake of genetic counseling, knowledge of bleeding risks and psychosocial impact in a South African cohort of female relatives of people with hemophilia. J Genet Couns 2015; 24: 978-86. doi: 10.1007/s10897-015-9834-8.
- Davies JS. Women with inheruted bleeding disorders and their offspring – the unresolved issues [doctoral thesis] London: UCL, 2017. Available from http://discovery.ucl.ac.uk/1547469/ (accessed 12 September 2019).
- Chi C, Hyett JA, Finning KM, et al Non-invasive first trimester determination of fetal gender: a new approach for prenatal diagnosis of haemophilia. BJOG 2006; 113: 239-42.
- Chi C, Lee CA, Shiltagh N, et al Pregnancy in carriers of haemophilia. Hemophilia 2008; 14: 56–64.
- Cutler J, Chappell LC, Kyle P, Madan B. Third trimester amniocentesis for diagnosis of inherited bleeding disorders prior to delivery. Haemophilia 2013; 19: 904-7. doi: 10.1111/hae.12247.
- Tsui NB, Kadir RA, Chan KC, et al Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood 2011; 117: 3684-91. doi: 10.1182/ blood-2010-10-310789.
- Hudecova I, Jiang P, Davies J, et al Noninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriers. Blood 2017; 130: 340-7. doi: 10.1182/blood-2016-12-755017.
- Dahdouh EM, Balayla J, García-Velasco JA. Comprehensive chromosome screening improves embryo selection: a meta-analysis. Fertil Steril 2015; 104: 1503-12. doi: 10.1016/j. fertnstert.2015.08.038.