Types of Genetic Screening

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Ideally a couple should consider genetic screening before they get pregnant. Anyone planning to have a child should be asking themselves “are there any particular issues in my family or my partner’s family that may impact a future child that I may have?” Unfortunately, the vast majority of couples don’t consider this before they conceive. However, after conception occurs, many first thoughts are “Is my baby going to be normal? Is my baby going to have any problems?”

Before pregnancy your doctor may order blood tests on you and your partner in order to determine if there are any specific genetic tests that need to be ordered. Many times, the tests ordered will depend on the history of both you and your partner. In general, a healthy young couple who has no history of genetic disorder in either side of the family usually does not require blood tests beforehand. If you or your partner do have a particular disorders, you should always notify your doctor or health care provider so that they can determine if it is something that is genetically passed on genetically and if there is a chance your baby may have this problem. If the problem can be passed on genetically, your doctor will determine what type of impact will it have on your baby so that he or she can determine what tests may be required.

It is also important to note that certain ethnicities have been identified as having particular genetic disorders prevalent within their population. Do not be alarmed if you are a member of such an ethnicity as this certainly does not mean that there will be something wrong with your baby. Every ethnicity has genetic predispositions. In fact, you may consider yourself lucky if you fall within an identified ethnicity with a history of genetic problems because there are tests that are available to be used to look for problems that may lie within your genes.

Other than blood tests, there are other tests that can be used once you are pregnant to determine if the baby has a genetic disorder. Chorionic Villus Sampling (CVS) is a test that extracts a tiny piece of the placenta during pregnancy using a tiny catheter through the vagina and the cervix to the uterus. The extracted placenta will then be sent for genetics testing to determine if the baby has a genetic disorder.

Amniocentesis is another test that can be done. This test is done by placing a needle through the mother’s belly to extract fluid from around the baby. The fluid will then be sent for genetic testing to look for any disorders.

Additionally, genetic screening can be done. Screening does not determine what a baby has but rather determines the risks associated with having a baby and problems that your baby may have. Screenings include certain blood tests such as a quad screen which can be conducted during the second trimester as well as early ultrasounds to determine the thickness of the baby’s neck. Regardless, all tests need to be discussed with your doctor or health care provider and every case needs to be considered on its own merits to decide what is appropriate for you and your growing baby.