A risk assessment regarding which genetic diseases the child may be affected by

This makes conditions with an abnormal composition or impaired synthesis of the haemoglobin molecule, known as haemoglobinopathies as an umbrella term, the most common inherited disease in the world and includes thalassaemia and sickle cell disease. These are genetic blood disorders that can lead to chronic anaemia, organ damage and increased risk of infection, among other conditions. Like many other diagnoses, it is a disease with several different forms and degrees of severity. By identifying individuals at risk, appropriate medical care can be put in place to prevent complications such as stroke, acute chest syndrome and bone complications. The beta form of thalassaemia is particularly prevalent among Mediterranean countries (Spain, Italy, Greece, Turkey), North Africa, India and the Middle East. Sickle cell disease is most common in tropical regions, particularly sub-Saharan Africa, India and the Middle East. Early detection through genetic testing is essential for rapid intervention and improved management of symptoms.

Cystic fibrosis (CF) is the most common life-limiting autosomal recessive disease among people of European heritage.

Cystic fibrosis (CF) is one of the most common severe hereditary diseases among people of European heritage. Approximately 1 in 25 people of European descent, and 1 in 30 white Americans, are carriers of a cystic fibrosis mutation. Although cystic fibrosis is less common in other groups, one in 30-90 people carry an abnormal gene. It is a genetic disease that can lead to respiratory complications such as chronic lung infections and digestive problems such as poor absorption of nutrients. It can also cause liver disease, sinus problems and reproductive disorders. Early detection through genetic testing is essential for rapid treatment and improved outcomes.