Genetic counseling is a personalized medical consultation in which a genetics specialist provides information about different types of genetic diseases, the inheritance patterns they can exhibit, and the risk of occurrence or recurrence of these diseases. It also covers possible diagnostic tests and/or treatments to consider based on your personal and/or family context.
The goal of genetic counseling is to assist you in making decisions in line with your values and beliefs, depending on the reproductive stage you are in, whether it’s during the process of seeking pregnancy (preconception stage) or during pregnancy itself (prenatal stage). Genetic counseling for chromosomal abnormalities, hereditary genetic diseases, and structural fetal malformations is part of comprehensive periconceptional care.
This consultation takes place before attempting pregnancy. During this stage, it’s important to assess and identify personal and/or family risk factors that could lead to complications during pregnancy, for the offspring, or fertility issues. It also involves providing recommendations on various measures or strategies to reduce the risk of diseases and/or pathologies.
The objectives of preconception counseling include:
- Assessing the individual’s health status before pregnancy.
- Evaluating reproductive risk by conducting a targeted interview to detect hereditary diseases.
- Providing information about measures to protect fetal health, such as avoiding exposure to toxins (alcohol, tobacco, and other illegal drugs), medications, chemicals, or radiological examinations.
- Initiating preventive measures against neural tube defects (e.g., spina bifida).
- Promoting healthy lifestyle habits for women and their partners before conception.