For example, the following groups face increased risks for these diseases:
- European Caucasians (cystic fibrosis)
- Eastern European Jews (cystic fibrosis, Tay-Sachs, Canavan and familial dysautonomia)
- Black people and people of Mediterranean descent (sickle cell anemia and thalassemia)
- People of Southeast Asian (thalassemia)
- French Canadians (Tay-Sachs and cystic fibrosis).
Newer tests, called expanded genetic carrier screenings, can detect gene mutations for Fragile X syndrome and many other rare disorders. For example, Horizon from Natera screens for up to 274 autosomal recessive and X-linked genetic conditions and generally provides the results in 10-14 business days.
Benefits of pre-pregnancy testing
Genetic carrier screening gives women and their partners valuable information to make the reproductive choices that are right for them and their families. If the results are negative, they can be reassured that the chance that their children will be born with the disorders they were screened for is extremely small.And if a couple is at risk of having a baby with a recessive disease, they can consider various options, such as:
- Natural pregnancy with or without prenatal diagnosis, such as chorionic villus sampling (CVS) or amniocentesis
- Preimplantation genetic diagnosis (PGD) with in vitro fertilization (IVF) to test and then transfer embryos free of the disease that both partners carry
- Adoption
- Use of a sperm or egg donor.