Prenatal diagnosis services
Most pregnancies are healthy - but sometimes birth defects, pre-term labor, fetal growth restriction, or multiple gestations can occur. In prenatal diagnosis, we use the latest technology and information to assess your pregnancy and screen for problems. If we find something of concern, we'll do everything we can to help you arrive at the best possible outcome for you and your baby.
We use genetic counselors, screening tests, ultrasound and diagnostic tests (when needed) to collect this information. Many steps and options are involved in prenatal diagnosis, and not everyone will make the same choices. Our goal is to inform you about any potential risks or problems, and the options that you have, to allow you to make the best decision for you, your pregnancy and your family.
Diagnostic tests
These are tests that can specifically discover if a fetus has a certain problem such as Down syndrome. We can test for many things besides Down syndrome, but these specific tests are reserved for those couples that have a known risk for the specific condition. If you are in a risk group or in a situation for which a diagnostic test may be indicated, detailed counseling will help you understand your risks and options.
The tests are "invasive" and do carry a small risk for pregnancy loss. If you have questions about whether prenatal diagnosis is right for you, please talk with your healthcare provider.
Amniocentesis
Amniocentesis is taking a sample of the fluid around the fetus by inserting a thin needle. Ultrasound is used to guide the needle during the entire procedure. The fluid is then tested and the cells are cultured in the lab to give the results. The test is typically performed between 15 and 20 weeks gestation.
Women who meet one or more of the following criteria may want to consider prenatal diagnoses by amniocentesis:
- Have had a previous pregnancy with a chromosome abnormality (e.g. Down's syndrome).
- Are a carrier of a known chromosomal disorder. This also applies if the father is a carrier.
- Have had a triple marker maternal serum screening test result indicating an increased risk for chromosomal abnormalities.
- Are concerned about age-related risks because the risk of some chromosomal disorders increases with maternal age.
- Are a carrier of sex-linked diseases, such as hemophilia or muscular dystrophy.
- Have a family history of birth defects.
- Are carriers of single gene disorders that can be detected prenatally.
CVS
CVS (or chorionic villus sampling) is a sampling of the developing placenta. It is either done through the cervix (with a catheter) or through the abdomen (with a needle). Ultrasound is used throughout the procedure to guide the instrument. The test is typically performed between 10 and 13 weeks gestation. With experienced physicians, the procedure related risk is equal to that of an amniocentesis.
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