Pregnancy Screening & Testing
It is important to understand the various ways you can obtain information about the health of your pregnancy. Although there is no test that covers all genetic diseases or birth defects, the links on these pages provide some background information on commonly available diagnostic and screening procedures.
The decision about whether to opt for a screening or diagnostic test is personal. As you discuss your options with a Genetic Counselor, you should consider how much information you wish to gain during your pregnancy and how you feel about the chance for complications that accompany some of the testing options. During your appointment, your Genetic Counselor will outline the benefits and limitations of each option and review your personal situation so that you are comfortable with your final decision.
A diagnostic test provides definite information for certain conditions. There is no medical procedure that can test for all diseases at once. While no test can give a complete guarantee, diagnostic testing is the most accurate technology available for detecting chromosome or genetic problems during a pregnancy. Most diagnostic tests are invasive and carry a small risk of complications. Commonly available diagnostic procedures include:
Screening provides a personalized risk assessment for certain medical conditions. Certain blood tests and ultrasounds are commonly available genetic screening tests in pregnancy. Screening tests are not invasive and carry no risk to the pregnancy. A ‘normal’ result on a screening test does not mean you have a healthy pregnancy, but your chances of having a baby with certain problems are lower than most. If you have an ‘abnormal’ result from a screening test, you may have a healthy pregnancy, but you may want to have a diagnostic test performed for definite information. Commonly available screening tests include:
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