Our genetic makeup (DNA, chromosomes, genes, and proteins) is what makes each of us unique. Many diseases are caused by changes or mutations in certain genes and chromosomes. Genetic screening tests help determine whether you are at an increased risk of having a baby with a genetic disorder. Some of the common genetic diseases include sickle cell disease, cystic fibrosis, Down syndrome, and Tay-Sachs disease.
Your doctor may recommend a genetic screening during pregnancy if you or your partner has a family history of genetic disorders or suffer from a genetic disorder, you have a child with a genetic disorder, or you are 35 years or older. A genetic counselor thoroughly reviews your medical history and family medical history to determine if your baby is likely to have a genetic disorder.
Screening can be done either before conception or during pregnancy. A carrier screening test is a part of genetic screening and is performed when planning for pregnancy or during the early stages of pregnancy, to identify conditions that have the potential to adversely impact the health of your developing baby in the future. The test lets you know whether you and/or your partner are carriers of a disease, and helps you to make important pregnancy-related decisions.
Sometimes, a random genetic mistake can occur despite healthy family history. Genetic screening involves laboratory testing of your blood. If this is positive for a genetic abnormality, then amniocentesis and chorionic villus sampling may be recommended. Amniocentesis involves testing a sample of amniotic fluid (fluid in which your baby develops), while chorionic villus sampling involves removing a sample of tissue from the placenta to test for genetic problems.
The results of these genetic screening tests can be discussed in detail with your doctor or genetic counselor, who will advise you on the best way forward.