Genetic testing during pregnancy can provide expectant parents with valuable information about their baby's health. It can help identify potential genetic disorders, as well as the risk of developing certain diseases. There are two main types of genetic testing: chromosomal testing and gene expression tests. Chromosomal testing looks at entire chromosomes or long lengths of DNA to identify changes on a large scale, while gene expression tests examine which genes are turned on or off (expressed) in different types of cells.
Most genetic screening tests are performed during the first and second trimester of pregnancy. Depending on the risk factors you and your partner may have, there are a few different types of tests available. Genetic screening tests can identify possible problems during pregnancy, but they cannot diagnose genetic conditions. If you were screened that indicates a possible genetic condition, our team can recommend diagnostic tests to arrive at a conclusive diagnosis.
Genetic testing can be done with small samples of blood or saliva (saliva). In pregnant women, genetic testing can be done on the amniotic fluid (through amniocentesis) or on the placenta (using a chorionic villus sample). Tests can also be performed on an embryo during in vitro fertilization (IVF). It usually takes a few weeks for test results to be ready.
Before genetic testing, it is important to gather as much information as you can about your family's medical history. Based on your genetic history and that of your partner, your doctor may recommend genetic testing. However, genetic testing is optional, so it's important to know your options and find out when these tests might be recommended. Some expectant parents choose to have genetic testing to feel more prepared about the pregnancy and their baby's health.
Talking to your doctor, a medical geneticist, or a genetic counselor about what you are going to do with the results is an important step in the genetic testing process. Depending on the type of test, a sample of blood, skin, amniotic fluid, or other tissue will be collected and sent to a laboratory for testing. If you are being tested for an inherited genetic disorder, you might consider talking to your family about your decision to have genetic testing. The doctor uses a long needle that goes through the abdomen to the uterus to take the fluid sample, which is then tested for genetic disorders.
Genetic testing provides additional information about pregnancy, including the risk that the baby will be born with certain genetic disorders. Amniocentesis is a type of diagnostic test that requires taking a sample of the amniotic fluid that surrounds the fetus. The tissue is tested to identify genetic disorders such as Down syndrome, trisomy 13, trisomy 18, spina bifida, and other conditions of the brain or spine. Prenatal genetic testing provides expectant parents with information about the fetus's DNA and the risk of certain genetic disorders. Genetic testing plays a vital role in determining the risk of developing certain diseases, as well as in screening and sometimes in medical treatment.
Talk to your doctor, medical geneticist, or genetic counselor before the test about when you can expect the results and talk about them.