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  • Print publication year: 2010
  • Online publication date: December 2010

Chapter 16 - Genetic counseling and pre-natal diagnosis in hemophilia

from Section 5 - Hemorrhagic disorders


This chapter addresses the management of pregnancy in women with mechanical heart valves and discusses the maternal and fetal risks associated with the different anticoagulant options, to enable clinicians and women to make the most informed choice in this challenging clinical situation. Thromboembolic complications of mechanical valves include valve thrombosis, causing valve obstruction or systemic embolization, mainly cerebrovascular accidents (CVA) but also myocardial infarction or embolization into peripheral arteries. Systemic thromboembolism can develop from either obstructed or non-obstructed valves. Oral anticoagulants, such as warfarin and acenocoumarol, are the most effective agents for prevention of valve thrombosis and systemic thromboembolism during pregnancy in women with mechanical heart valves. Management of women in the peri-delivery period requires close clinical monitoring, given the bleeding risks associated with therapeutic anticoagulation. A planned delivery allows for better control and adjustment of anticoagulation.


1. LudlamCA, PasiKJ, Bolton-MaggsPet al. A framework for genetic service provision for haemophilia and other inherited bleeding disorders. Haemophilia 2005; 11: 145–163.
2. KasperCK, LinJC. Prevalence of sporadic and familial haemophilia. Haemophilia 2007; 13: 90–92.
3. PlugI, Mauser-BunschotenEP, Broker-VriendsAHet al. Bleeding in carriers of haemophilia. Blood 2006; 108: 52–56.
4. ShettyS, GhoshK, PathareA, MohantyD. Carrier detection in haemophilia A families: comparison of conventional coagulation parameters with DNA polymorphism analysis – first report from India. Haemophilia 2001; 5: 243–246.
5. LeugerM, OldenburgJLavergneJ-Met al. Somatic mosaicism in Haemophilia A: a fairly common event. American Journal of Human Genetics 2001; 69: 75–87.
6. GreenPM, SaadS, LewisCM, GianelliF. Mutation rates in humans I: overall and sex-specific rates obtained from a population study of haemophilia B. American Journal of Human Genetics 1999; 65: 1572–1579.
7. AventN, ChittyLS. Non-invasive diagnosis of fetal sex; utilisation of free fetal DNA in maternal plasma and ultrasound. Prenatal Diagnosis 2006; 26: 598–603.
8. Bustamente-AragonesA, Rodrguezde Alba M, Gonzalez-GonzalezCet al. Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers. Haemophilia 2008; 14: 593–598.
9. MichaelidisK, TuddenhamEG, TurnerCet al. Live birth following the first mutation specific pre-implantation genetic diagnosis for haemophilia A. Thrombosis and Haemostasis 2006; 95: 373–379.