This facilitates identification of carriers and prenatal diagnosi

This facilitates identification of carriers and prenatal diagnosis for male fetuses. Genetic counseling is key to helping people with hemophilia, carriers, and their families make more informed choices. Prenatal diagnosis is usually offered when termination of the pregnancy would be considered if an affected fetus was identified. However, it may also be done to help the family prepare and to plan delivery. Assisted delivery is best avoided in an affected fetus. Fetal gender can be determined using Y chromosome-specific PCR in maternal plasma/serum after 7–9 weeks of gestation [7, 8] or by ultrasonography

beginning week 11 of gestation [9]. Chorionic villus sampling (CVS), or biopsy, is the main method of prenatal diagnosis and is best done between 9 and 14 weeks of gestation. Biopsy carried out earlier Buparlisib may be associated with increased complications including fetal limb abnormalities. (Level http://www.selleckchem.com/products/ly2109761.html 1) [ [10-13] ] Amniocentesis can be done at 15–17 weeks of gestation [11]. It is important to be aware of and to follow the relevant laws governing such procedures in the country

where the service is being provided. For carriers with low factor levels (<50 IU dL−1), hemostatic support may be required to prevent maternal bleeding during prenatal diagnosis procedures. All invasive methods used for prenatal diagnosis may cause feto-maternal hemorrhage. Anti-D immunoglobulin should be given if the mother is RhD negative. (Level 3) [ [14] ] Preimplantation genetic diagnosis allows selection of embryos without specific mutation to be implanted into the uterus. [15] FVIII levels usually rise

into the normal range during the second and third trimesters and should therefore be measured in carriers selleck kinase inhibitor during the third trimester of pregnancy to inform decisions for factor coverage during delivery. (Level 3) [ [4] ] In carriers with significantly low factor levels (<50 IU dL−1), clotting factor replacement is necessary for surgical or invasive procedures including delivery. (Level 3) [[4]] The need for clotting factor replacement should be planned in the prenatal period. Route of delivery in carriers with a normal fetus should be as per obstetric indications. Delivery of infants with known or suspected hemophilia should be atraumatic, regardless of whether it is vaginal or cesarean, to decrease the risk of bleeding. (Level 3) [ [4] ] Forceps and vacuum extraction should be avoided in vaginal delivery, as well as invasive procedures to the fetus such as fetal scalp blood sampling and internal fetal scalp electrodes [16]. Persons with bleeding disorders should be vaccinated, but should preferably receive the vaccine subcutaneously rather than intramuscularly or intradermally, unless covered by infusion of clotting factor concentrates.

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