This test identifies whether individuals carry a gene mutation associated with a specific genetic disorder. Carriers are typically unaffected by the condition themselves but have the potential to pass the mutated gene to their children. Carrier screening is often recommended for individuals with a family history of genetic disorders or those from certain ethnic backgrounds with higher carrier frequencies for specific conditions.
PGT is a technique used during in vitro fertilization (IVF) to analyze embryos for genetic abnormalities before implantation. This can help identify embryos with a lower risk of certain genetic disorders, increasing the chances of a healthy pregnancy.
Conducted during pregnancy, these tests assess the genetic health of the developing fetus. Common prenatal tests include chorionic villus sampling (CVS) and amniocentesis, which can detect chromosomal abnormalities and certain genetic disorders.
This blood test analyzes cell-free DNA in the mother’s bloodstream to screen for common chromosomal abnormalities, such as Down syndrome. NIPT is less invasive than traditional prenatal testing methods and poses minimal risk to the fetus.
While not a test in itself, genetic counseling is an essential component of reproductive planning. Genetic counselors provide information about the potential risks, available tests, and the implications of genetic conditions. They assist individuals or couples in making informed decisions based on their personal and family health histories.