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Objective. To describe the characteristics of obstetric and perinatal outcome of a group of pregnancies complicated by an anencephalic fetus. Methods. Observational study including anencephalic fetuses, divided into groups according to the evolution of pregnancy: elective termination of pregnancy ETP; stillbirths (SBs); live births (LBs), and loss of(More)
Partial trisomy 13q is an uncommon chromosomal abnormality with variable phenotypic expression. We report prenatal diagnosis of partial trisomy 13q in a fetus with partial agenesis of the cerebellar vermis, partial agenesis of the corpus callosum, hydrops and polyhydramnios. G-banding karyotyping, spectral karyotyping and array comparative genomic(More)
OBJECTIVE Holoprosencephaly (HPE) is heterogeneous in pathogenesis, integrating genetic susceptibility with the influence of environmental factors. Submicroscopic aberrations may contribute to the etiology of HPE. Our aim was to report the molecular analysis of 4 fetuses with HPE and normal metaphase karyotype. METHOD A whole genome BAC-array based(More)
INTRODUCTION Prenatal diagnosis of myelomeningocele (MM) allows planning its management and, recently, a possible in utero repair. OBJECTIVE To describe the perinatal outcome of fetuses with MM, in a Fetal Medicine Unit, identifying possible candidates for the in utero surgical repair. METHOD Retrospective and descriptive study of 58 cases of prenatally(More)
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