• Genetic Testing in Pregnancy

    Some new parents love mystery. Others are eager for answers! It?s natural to want to know everything about your pregnancy as soon as possible. That?s why almost 70% of mothers want to know the sex of their child before birth. That excitement for information is also why genetic testing in pregnancy has become both popular and widely recommended.

    Modern genetic tests are designed to detect possible issues that may arise in a developing baby and to provide parents with information, options, and reassurance. Despite how modern or futuristic it may sound, genetic testing has been around in some form since the 1990s. Over the years, these tests have become more reliable and more common.

    What is Genetic Testing?

    You?ve probably heard of DNA being referred to as the blueprint for your body. That?s mostly right. Your DNA is unique to you, and it?s responsible for telling your body what proteins go where. Certain strands of DNA are tasked with determining the color of your eyes. Other sections of DNA control the color of your hair and so on.

    Over the years, scientists and researchers have identified specific genetic codes responsible for certain medical complications and differences. Genetic testing is a process by which some genetic material is extracted and examined for DNA markers that may indicate possible irregularities.

    What Types of Genetic Testing Can I Get?

    Because they are designed to put as much information into the hands of parents as possible, there are numerous types of genetic testing in pregnancy available. Some of the most requested and most powerful tests include:

    Not every woman will undergo every genetic test. Less invasive tests, such as blood samples, are routinely offered parts of prenatal care. More invasive tests, such as amniocentesis and CVS can each cause cramping or bleeding and carry a slight risk of miscarriage, so they tend to be reserved for situational needs.

    If I?m Pregnant, Should I Get Tested?

    Because it can be performed before you ever become pregnant, genetic carrier screening is relatively popular and routine. But not every test is required for every pregnancy, and your OB GYN will generally not advise you to undergo unnecessary tests. In most cases, your OB GYN will recommend further genetic testing only should one of the following cases arise:

    What Will Genetic Testing Really Tell Me?

    In every case, it is up to you as the parent to decide whether or not to undergo any genetic testing in pregnancy. Generally speaking, genetic testing is often very reliable. Even still, many tests are coupled with ultrasound examinations in order to confirm any findings, as both false-positives and false-negatives are possible.

    Accurate as they are, genetic testing usually deals in risks and probabilities. The less invasive, less accurate tests will give you an indication of possible risks. The more accurate tests will provide some, but not absolute, certainty.

    Generally, genetic testing will screen for issues such as:

    Risks and Concerns with Genetic Testing

    There are benefits and possible drawbacks to any genetic testing. In cases of more invasive tests, the most common risks are bruising, bleeding and infection. Very rarely, miscarriage can result–it?s a remote risk, but one worth discussing with your OB GYN.

    For most parents, the concerns around genetic testing are ethical in nature. The question quickly becomes: what do you do with the information you have? Most families undergo testing for peace of mind–tests that come back clear and normal can give you comfort and help you focus on the joys of parenthood.

    For other families, advance notice of possible issues can give them time to prepare. Some medical interventions may be able to lower risks of genetic issues becoming severe at birth. That time to plan can be essential, especially if your infant might require extra care or accomodations.

    Genetic testing and screening is a powerful tool. It?s designed to give parents extra information so they can more accurately and more successfully plan for a new addition to their family. We offer a full range of obstetrics services at our offices in Wilmette and Glenview. If you have questions about genetic testing–what your options are and what your choices might be–you can schedule a consultation with a member of our staff and get personalized options and advice.