Common Questions About Maternal-Fetal Medicine

Prenatal genetic testing helps you prepare for the birth of your child while staying informed of the potential genetic disorders that could affect the fetus. Maternal-Fetal Medicine specialists with Women’s Care focus on patients with complications during pregnancy. MFM physicians believe that all women have the right to expect the best professional care.


Here are the answers to 8 commonly asked questions surrounding genetic testing.


  1. What can I expect at my first appointment?

In an appointment that includes a consultation, you will have a conversation with one of our physicians about your medical history, including any medical conditions along with medications or concerns you may have. You will be asked about your family’s medical history, to make sure our doctor has a complete picture of your health. Reviewing these things, plus your pregnancy history will determine whether genetic testing is recommended.


  1. What is genetic counseling?

Genetic counseling is a process that may be recommended for women with a significant medical or pregnancy history of birth defects or genetic conditions. You will receive information during this process to help you make decisions about reproductive options and preventative strategies. Our genetic counselors also review routine screening options that are available in every pregnancy. Women’s Care physicians believe in non-judgmental and non-directive counseling. Your specialist will help you create a game plan and support you throughout the process. You can expect to receive information about the benefits, limitations and potential risks of all of the screening options and procedures that we offer.


  1. What are genetic disorders? What am I testing for?

Genetic disorders are the result of changes in a person’s genes or chromosomes. There are two main categories. The first is aneuploidy. Aneuploidy is a condition where there are missing or extra chromosomes or pieces of chromosomes. Trisomy is when there is an extra chromosome and monosomy is a missing chromosome. The second category is inherited disorders, such as sickle cell disease, cystic fibrosis, Tay-Sachs disease and many others. These disorders are caused by mutations in genes. In most cases, both parents must carry the same gene for it to affect the child. Parents can be screened for these disorders through their DNA in pan-ethnic screening panels.


  1. When should I do prenatal genetic screening tests?

Carrier screening is administered on parents before or during pregnancy. The blood sample or tissue swab tests determine if a person carries a gene for certain inherited disorders.


First-trimester screening tests a pregnant woman’s blood and includes an ultrasound exam (nuchal translucency screening), which looks for risk of Down syndrome and other types of aneuploidy. It also looks for physical defects of the brain, heart, abdominal wall and skeleton.


Second-trimester screening includes a “quad” blood test for four different substances in the blood, looking for Down syndrome, trisomy 18 and neural tube defects. Ultrasound exams at this time screen for major physical defects in the brain, spine, facial features, abdomen, heart and limbs.


  1. What is a prenatal diagnosis?

Prenatal diagnosis is the process of detecting certain types of birth defects and inherited disorders before a baby is born. Birth defects are abnormalities in a baby that may produce mental or physical problems at birth. These problems can be mild, moderate or severe. The screenings will give you information about your baby so that you can prepare for any potential problems. Your doctor will help you determine if you should consider reproductive genetic counseling and/or prenatal diagnosis.


  1. What can I expect from testing?

Most genetic tests are performed on patients that are pregnant or trying to become pregnant.  In some cases, diagnostic testing can be recommended. Amniocentesis is the test we offer in our office. Our physicians will go over the options for testing at your appointment once they learn your history, review your screening and the ultrasound. During your appointment, you can usually choose to take a blood draw for screenings that same day. Diagnostic testing is also usually available the same day. To learn more about the specific tests, visit


  1. When do I get an ultrasound?

Ultrasounds are performed at any time during pregnancy, and most appointments will be scheduled with an ultrasound, as the results can affect the counseling.


  1. I’ve heard that there are at-home DNA kits for gender screening?

These are novelty products that look at the baby’s DNA for the Y chromosome only. While it is 98% correct, 20% of screenings don’t come back with a result. These tests don’t screen for any medical conditions, so we generally recommend genetic counseling and using a medical laboratory for testing.


For more frequently asked questions during pregnancy, visit