Genetic counselling

Autism: genetic or not genetic?

Definition of Autism and Autism Spectrum Disorders (ASD) Autism is a neurodevelopmental disease, characterized by early childhood-onset impairments in communication and social interaction alongside restricted and repetitive behaviors and interests. In 2013, according to the criteria from the 5th version of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V), the American Psychiatric Association has

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Expanded Carrier Screening

Every person is a carrier of AR/XLR mutations Pathogenic mutations causing autosomal recessive (AR) and X-linked recessive (XLR) genetic diseases are rare, but each of us is a healthy carrier of at least 5 AR/XLR conditions, according to estimates. So, we are all potentially exposed to specific reproductive risks for rare disorders, although such risks

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Factor V Leiden: all the answers

Factor V of Leiden and thrombophilia: how many questions! What is Factor V Leiden? If I have the Factor V Leiden, have I a higher risk for deep veins thrombosis? Am I at risk of miscarriage with factor V Leiden? The factor V Leiden has been extensively studied in recent years. In the face of

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