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.

Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain.

Fragile X syndrome (FXS) accounts for about one-half of cases of X-linked intellectual disability and is the most common monogenic cause of mental impairment. Reproductive options for the FXS carriers include preimplantation genetic diagnosis (PGD). However, this strategy is considered by some centers as wasteful owing to the high prevalence of premature ovarian failure in FXS carriers and the difficulties in genetic diagnosis of the embryos.

Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview.

Hemophilia A and B are the most common hereditary hemorrhagic disorders, with an X-linked mode of inheritance. Reproductive options for the families affected with hemophilia, aiming at the prevention of the birth of children with severe coagulation disorders, include preimplantation genetic diagnosis (PGD). Here we present the results of our PGD Program applied to hemophilia, at the Department of Genetics, Reproduction and Fetal Medicine of the University Hospital Virgen del Rocío in Seville.

Novel one-step multiplex PCR-based method for HLA typing and preimplantational genetic diagnosis of β-Thalassemia.

Preimplantation genetic diagnosis (PGD) of single gene disorders, combined with HLA matching (PGD-HLA), has emerged as a tool for couples at risk of transmitting a genetic disease to select unaffected embryos of an HLA tissue type compatible with that of an existing affected child. Here, we present a novel one-step multiplex PCR to genotype a spectrum of STRs to simultaneously perform HLA typing and PGD for β-thalassemia. This method is being routinely used for PGD-HLA cycles in our department, with a genotyping success rate of 100%.

Hemimegalencephaly: prenatal diagnosis and outcome.

Hemimegalencephaly (HME) is a developmental abnormality of the central nervous system (CNS) which may present as either a syndromic or isolated case. Here, we present two cases of early prenatal diagnosis of HME. Prenatal CNS ultrasound and MRI in the first case revealed ventricular asymmetry, midline shift with displacement of the occipital lobe across the midline, large dilatation mainly at the posterior horn of the left lateral ventricle, and a head circumference in the 90th percentile without involvement of the brain stem and cerebellum, as well as abdominal lymphangioma.

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.

Two sets of monozygotic twins after intracytoplasmic sperm injection and transfer of two embryos on day 2.

Objective: To report a case of quadruple gestation (two sets of monozygotic twins) after intracytoplasmic sperm injection (ICSI) and transfer of two embryos.

Design: Case report.

Setting: Tertiary clinical and academic medical center.