Prenatal diagnostic techniques and IVF in patients with coagulopathies.

Hemophilia and other hereditary coagulopathies tend to be associated with a huge negative impact both for individuals who suffer the disease and for their families. In this respect, hemophilia carriers feel the need to make reproductive decisions which will inevitably affect their children, their families and from themselves. Genetic and reproductive counseling is of the essence to alleviate these women's distress. Prenatal diagnosis and preimplantation genetic diagnosis (PGD) allow couples at high-risk of transmitting genetic diseases like hemophilia and other hereditary coagulopathies to prevent the birth of children with the disease. The main difference between prenatal diagnosis and PGD is related to the time at which diagnosis is made. Prenatal diagnosis is done when the woman is pregnant, and both the performance of the technique and its result can affect the course of pregnancy. PGD is a diagnostic procedure in which embryos created in vitro are analyzed for genetic defects before being transferred to the uterus. Performance of both prenatal diagnosis and PGD is subject to a few prerequisites: the establishment of an exact clinical diagnosis, an understanding of the parental genetic alterations that are responsible for the disease and technical feasibility of genetic diagnosis. These couples should be provided with complete, up-to-date and easy-to-understand information.

One-step multiplex polymerase chain reaction for preimplantation genetic diagnosis of Huntington disease.

OBJECTIVE: To develop a multiplex polymerase chain reaction (PCR) method for Huntington disease (HD) preimplantation genetic diagnosis (PGD) based on the coamplification of CAG repeats and three different polymorphic microsatellites in a single step of PCR. DESIGN: Techniques and instrumentation. SETTING: Tertiary clinical and academic medical center. PATIENT(S): Thirty-six embryos from seven clinical PGD cycles. INTERVENTION(S): Patients underwent a PGD cycle with transfer of two unaffected embryos on day 5. MAIN OUTCOME MEASURE(S): PGD based on mutation identification or exclusion testing for at-risk HD carriers. RESULT(S): Thirty-six embryos from seven clinical PGD cycles were analyzed with the new method here developed, and results were obtained for 34 of them. Two embryos were transferred on day 5, resulting in two singleton pregnancies. CONCLUSION(S): An interesting application of this approach can be considered for PGD cycles in which numerous markers must be used. We have also used this one-step multiplex method for PGD for other pathological conditions.