At Joaquim Chaves Saúde (JCS) Medical Units you’ll find the Medical Genetics specialty. This area evaluates patients from a clinical perspective by performing exams for laboratory diagnosis (chromosomal, metabolic and molecular studies), searching for causes and heritage patterns for genetic diseases, in all age groups.
Genetic diseases cover all areas of medicine and are a relevant cause of human morbidity and mortality. It is estimated that 6 out of 10 people, until the age of 60, will have a genetic disease: mutation, interaction of various genes and/or environmental influenced. Medical Genetics intersects with other specialties, such as Obstetrics, Paediatrics, Internal Medicine and Oncology, amongst others, interacting with them in diagnosis research.
Usually, this appointment is scheduled for clarification and genetic advice concerning:
Pregnant women, when foetal anomalies are detected
Couples who lost a child due to congenital or hereditary anomaly or with a history of recurrent abortion
Couples who may pass on to their children a genetic condition
Children with congenital changes, learning deficit or malformations
Children or adults with chromosomal changes or hereditary conditions
People with a family history of known genetic condition or a frequent genetic condition in the family, such as oncologic diseases with a family component
At JCS units, you can access the following areas, within Medical Genetics:
Medical appointments:
Cardiogenetics
Hereditary dyslipidemias
Cardiovascular prevention
Family risk of cardiovascular diseases and sudden death syndrome
Family risk of hereditary neoplasia
Predictive medicine for neurological diseases
Rare diseases, congenital anomalies and genetic syndromes
Behaviour disorders and learning difficulties
Fetal losses
Prenatal diagnosis
Services
Medical Genetics Appointment
Oncological Risk Appointment
Health Units
Consultants
Other Specialties
