Publications by authors named "A Abuli"

Article Synopsis
  • Autosomal recessive and X-linked disorders can have serious effects on childhood development and are inherited through specific Mendelian genetics patterns.
  • A group of Spanish genetic and reproductive organizations issued a consensus statement advocating for population-based genetic carrier screening (GCS).
  • They recommend integrating preconception GCS into public healthcare to enhance couples' reproductive choices and inform timely health decisions, addressing various technical, ethical, and legal factors in the process.
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Objective: To assess whether targeted magnetic resonance of one or both of the progenitors could refine the diagnosis in cases of fetal brain anomalies with uncertain prognosis.

Methods: Single-center retrospective case series, where targeted magnetic resonance was performed on one or both of progenitors after a suspicion of fetal complex brain anomalies, and prognosis was unclear based solely on fetal tests (neurosonogram, fetal magnetic resonance, and genetic testing).

Results: Seven women were included.

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Objective: This document addresses the clinical application of next-generation sequencing (NGS) technologies for prenatal genetic diagnosis and aims to establish clinical practice recommendations in Spain to ensure uniformity in implementing these technologies into prenatal care.

Methods: A joint committee of expert obstetricians and geneticists was created to review the existing literature on fetal NGS for genetic diagnosis and to make recommendations for Spanish healthcare professionals.

Results: This guideline summarises technical aspects of NGS technologies, clinical indications in prenatal setting, considerations regarding findings to be reported, genetic counselling considerations as well as data storage and protection policies.

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Genetic counselling education and training in Europe spans a continuum of 30 years. More master programs are opening due the demand for qualified genetic counselors. This report describes the evolution of training in Europe and the current state of genetic counselling training programs.

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