Hundreds of diseases, such as cystic fibrosis causing severe lung disease, spinal muscular atrophy (SMA) causing muscle atrophy, the most common genetic cause of autism and mental retardation, Fragile X syndrome can be identified, which cannot or can only rarely be detected by other methods (e.g. ultrasound examination).
The test can be performed before conception or in the early stages of pregnancy. If the test is performed during pregnancy, it can be performed no later than the 15th week of pregnancy, because in case of a positive result, an invasive examination of the fetus (amniocentesis or chorion biopsy) is recommended.
Since carrier screening is aimed at screening out hidden genetic differences that can be inherited by the parents, its performing it once is enough, not necessary in all pregnancies.
In total, we can obtain information on the carrier status of more than 300 genetic diseases. Individually, these diseases are rare, but overall they are one of the most important causes of serious childhood diseases.
There are two types of genetic carrier testing:
