Genetic screening, also known as carrier screening can be done at you obstetrician / gynecologists office with a single blood test; you typically receive the results in two weeks.
What is genetic screening?
Many genetic abnormalities can be diagnosed before birth of a baby. Genetic screening is used to determine whether a couple is at risk of having a baby with a hereditary genetic disorder. Your doctor may recommend genetic testing during the pregnancy if you or your partner have a family history of genetic disorders and/or you have had a fetus or baby with a genetic abnormality.
Some of the genetic disorders that can be diagnosed before birth include :
- Cystic fibrosis : a life-threatening condition that causes lung damage and digestive problems.
- Thalassemia : It typically causes anemia and bone growth and liver problems; in severe cases, some babies born with the condition may not survive
- Fragile X Syndrome: A condition that can cause developmental problems, including learning disabilities and mental retardation
- Hemophilia A : A hereditary bleeding disorder caused by a lack of blood clotting factor VIII. Without enough factor VIII, the blood cannot clot properly to control bleeding.
- Sickle cell anemia : Causes a blood disorder that leads to anemia, a weakened immune system, and other health complications.
- Polycystic kidney disease
- Tay-Sachs disease : A disorder of the central nervous system that’s usually fatal in early childhood.
When should you get generic testing / carrier screening done?
Genetic testing is usually done before you start trying to get pregnant. But because so many pregnancies are unplanned, it so happens that many couples get screened early in pregnancy.
Getting screened before you try to conceive can provide you reassurance or can help you make an informed plan for pregnancy. If it turns out that either you or your partner are carriers, you can be prepared to have a baby with the genetic condition, choose to learn about certain prenatal tests to check whether your baby’s healthy, or you can consider other options like egg or sperm donation or adoption.
Alternatively, getting tested once you become pregnant can help you and your doctor decide the right prenatal tests for your baby/ If you know that your baby’s at an increased risk for having cystic fibrosis or sickle cell disease, for instance, your doctor can look for those conditions specifically through either a CVS (chorionic villi sampling) or amniocentesis.
What do genetic screening methods include?
Genetic screening methods may include the following:
- Ultrasound scan
- Alpha-fetoprotein test (AFP) or multiple marker test
- Chorionic villus sampling (CVS)
- Percutaneous umbilical blood sampling (withdrawing a small sample of the fetal blood from the umbilical cord)