Pregnancy is an exciting time for couples. However, it can also be filled with anxiety when there’s worry that a baby might be born with certain health conditions. Some factors can put your baby at greater risk, such as being older or having certain genetic disorders in your family. Genetic prenatal testing can determine whether these risks are present and put your mind at ease.

What Types of Prenatal Testing are Available?

 There are two main types of prenatal genetic testing. They include the following:

 • Screening tests: Screening tests can determine whether your baby is more likely to develop birth defects that are genetic disorders. Tests can be done using blood, ultrasounds, and DNA screening. Testing is usually done during the first or second trimester but cannot be used for an absolute diagnosis. However, if the tests determine that there may be a higher risk of a genetic disorder in your baby, you will be directed to have diagnostic tests to determine a diagnosis.

 • Diagnostic tests: If your age, medical history, family history or screening test determines there is a potential problem, you can have a diagnostic test performed. This type of test is the only way to get a definitive diagnosis. It can involve amniocentesis or chorionic villus sampling. These tests slightly increase the risk of miscarriage.

What Types of Screening Tests are Available?

There are various prenatal screening tests available. They include the following:

 • First trimester screening tests: Blood tests and ultrasounds are available during the first trimester to measure the size of the tissue in the back of your baby’s neck. This is nuchal translucency, which can help to determine the presence of Down’s syndrome, in which the nuchal translucency is much larger than normal.

 • Second trimester screening tests: The quad screen is performed using blood testing and is done during the second trimester. It can pick up on the levels of four substances found in your blood and can determine whether your baby is at risk of Down’s syndrome and other chromosomal disorders. It can also determine neural tube defects.

 • Prenatal cell-free DNA screening: This is a blood test that looks at the baby’s DNA in your bloodstream to determine whether there’s a higher risk of chromosomal abnormalities, including Down’s syndrome. The baby’s gender and blood type can also be detected through this test.

What Questions Should You Consider?

The purpose of genetic prenatal screening is to determine whether there is a risk of abnormalities in your baby. Testing is optional, but having it done can help you make an informed decision. There are certain questions you might want to consider before you decide to have tests done, including the following:

 • What will you do with the results?: If your results are normal, your fears can be eased. However, if they reveal your baby may have a birth defect, you and your doctor can determine what next steps to take during your pregnancy. Or you might get the chance to decide how you will plan for your baby’s care if there’s a genetic condition detected.

 • Will the information determine your prenatal care?: Tests can sometimes find a problem that can be treated in pregnancy. Sometimes, you can be alerted about a condition that requires treatment after your baby is born.

 • How accurate are results of these tests?: Genetic prenatal tests aren’t perfect, which means there is a risk of a false-positive or false-negative. Results can vary.

 • What are the risks of the tests?: Testing can detect a potential disorder or defect, but it can also carry a higher risk of miscarriage.

 Schedule an Appointment

Whether to have genetic prenatal testing is up to you but can help you make the most informed decisions for your child. Discussing your options with your doctor can help you to make the best choices. 

 If you’re in the New York City area and want to undergo genetic prenatal testing, contact Dr. Alex S. Tepper, M.D., F.A.C.O.G. to schedule an appointment for prenatal genetic testing in Manhattan, NY.


Whether you are a new or returning patient, Dr. Tepper can assess your concerns and discuss your options to find the most comfortable and convenient care for you. To get started, call our office to set up an appointment.