Genetic consultation
The genetic consultation is geared towards patients who are planning a pregnancy and want to know the possible risk of disease in their offspring.
The goal of this visit is to carry out studies to identify any hereditary pathologies that could affect the health of the baby during its gestation or at some point in the future.
What is a genetic consultation?
The consultation is aimed at couples who wish to know the risk of genetic entities in their offspring. It also establishes the diagnosis of patients with rare diseases of genetic origin (congenital malformations, cognitive disabilities or pathological low stature or degenerative diseases) and enables prophylactic guidance in the forms of hereditary family cancer (breast, colon, retinoblastoma, among others).
Who would consider scheduling a genetic consultation at INSER?
Couples who wish to have children but may have a family history of hereditary diseases, consanguinity or recurrent pregnancy loss and couples who wish to know about pre-conceptional risks, even if they do not have a family history.
Patients with major congenital malformations, delayed development, progressive neuromuscular deterioration or degenerative diseases
Patients with a family history of hereditary cancer (Breast, Colon, Multiple Endocrine Neoplasia)
When is it advisable to have a genetic consultation?
Generally, patients are referred by another specialty. Within each human system or organ there are a significant number of genetic diseases that can be studied and with a certain risk of inheritance which are usually identified during other medical visits.
What is analyzed in a genetic consultation?
An extensive medical history is taken, including a family history with a familiogram and a physical examination. A preliminary diagnostic impression/assessment is done, and this is confirmed, when possible, by a genetic study, which makes it possible to identify affected family members or carriers.
