A Medical Genetics consultation is recommended for:
- children with psychomotor developmental delay, severe behavioural alterations, autism spectrum disorder;
- children with any set of congenital malformations, clinical pathology and dysmorphisms that appear to constitute a genetic syndrome;
- pregnant women with foetal pathology suspected of genetic syndrome on ultrasound or laboratory examinations;
- couples with a family history of genetic disease who want to assess their risk of disease and the risk of transmission to their children, current or future;
- adults with a family history or symptoms of late-onset neurological diseases (examples: Huntington's Disease, Familial Amyloid Polyneuropathy, Machado-Joseph Disease), cardiomyopathy or ophthalmopathy of genetic aetiology (examples: hypertrophic cardiomyopathy, retinitis pigmentosa) and familial cancer predisposition syndromes.
During the Genetics consultation, a careful history is taken, including family history, personal history, physical examination, examinations already performed, followed by counselling and a proposal to carry out complementary examinations (if indicated). The objective of this diagnostic process is to reach a result that allows:
- a better understanding of the disease in question (symptoms, definition of surveillance plans, prevention, prophylaxis, prognosis),
- identification of relatives at risk of developing symptoms or having affected children,
- offering reproductive options, such as prenatal diagnosis (PND) or pre-implantation genetic diagnosis (PGD), to carriers of pathogenic variants of the disease, at risk of disease recurrence in offspring, whether or not they are affected themselves,
- offering therapy, as personalised as possible (based on scientific evidence and provided it is approved).
HEALTHCARE PROFESSIONALS
Baía de Cascais Clinic – Tel.: 219 236 382*
• Dr Marta Amorim – Licence: 44050, issued by: Portuguese Medical Association
*(Standard rate call for the national landline network)
