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Genetic Testing

Genetic Testing

Screening Test

During your first trimester genetic testing will be discussed. Whether or not to have a screening test during pregnancy is a personal decision. For families who elect to have screening, the choice of which screening test to take is often a confusing one. You will have information in your prenatal handout on Cystic Fibrosis and testing for downs syndrome. There are now numerous tests available for genetic screening. We recommend that you take the time to go to the Lenetix website and fill out the questionnaire which will assist us in helping you make the right decision for you and your pregnancy.

Most expecting parents are at low risk for transmission of genetic problems. The following are some reasons why some patients might be referred to a Perinatologist (physician who provides care for high risk pregnancies along with your Obstetrician):

  • Abnormal screening for genetic disorder or positive screening test of a fetal defect
  • First trimester screening for Downs Syndrome
  • Couples in which one partner has a congenital defect or has a child with a Congenital birth
  • Women 35 years of age or older

Other Testing

Pap Smear

The pap smear is a test to evaluate the cells of the uterine cervix. It can alert us to precancerous conditions of the cervix. It is perfectly safe to perform the pap smear during pregnancy.

Cervical Cultures

Sometimes the appearance of the vaginal discharge suggests a vaginal or cervical infection. There are several different types of infections and it is important to determine the exact cause of the infection so that it may be promptly treated. Most infections, like yeast, are harmless to the fetus, but several can either increase the risk of preterm delivery or infect the baby at birth. When evaluating an abnormal cervical discharge I frequently recommend testing for gonorrhea and Chlamydia. Because these sexually transmitted infections can be asymptomatic it is much safer to test and put the matter to rest than to overlook the possibility of their presence.

Complete Blood Count (CBC)

On your CBC I look to see if you are anemic, or low in blood iron. I can also tell if your platelets (cells that help stop bleeding) are present in normal amounts. The white blood cell count (number of cells that fight infection) is also determined and used as a general health screen.

ABO and Rh

This is the blood type. You may have type A, AS, B, or O blood. The other test is Rh, and you may be either Rh positive (you have the Rh type,) or Rh negative (you don’t have the Rh type.) For our purposes the Rh is the more important test during pregnancy. I need to know if you are Rh negative so that we may do further testing during pregnancy to assure a healthy fetus. Being Rh negative does not make your pregnancy -high risk” as long as certain precautions are taken. I have a nice pamphlet that fully explains these precautions if your test shows you are indeed Rh negative.

INDIRECT COOMBS TEST (Antibody Screen) - This test is related to blood group testing. It tells me if you have made antibodies to any of the blood groups. Antibodies to certain blood groups can potentially cause harm to your fetus, but this can be ameliorated if we are aware of their presence.

Rubella Screen

Tests to see if you are immune to rubella, or “German Measles.” If we determine you are not immune, you should try to avoid close exposure to sick children, particularly children with fever and a rash.

Hepatitis B Surface Antigen

This test tells us if you are a carrier of hepatitis B. If you are a carrier you could infect your fetus, your sexual partner, and you should not be a blood donor. Babies born to mothers who carry hepatitis B are vaccinated at birth to reduce the chance of infection. Some mothers have been vaccinated against hepatitis B, and this test remains valid even if the vaccine has been administered.

HIV Screen

This is the test for the HIV (AIDS) virus. This test is recommended for every pregnant woman, both at the initial prenatal visit and again at childbirth. Because there are medications that can markedly reduce the chance of the baby contracting the HIV virus; this test is highly recommended. The test is confidential, meaning that results will be reported only to you.

Other Tests

Sometimes other tests are ordered based on your past medical history, family medical history and your physical examination. These include testing for diabetes, thyroid disorders, and other conditions. Typically cholesterol screening is not recommended in pregnancy, as it is both normal and desirable for the level to be elevated at this time.

P.S. Slightly terrified of needles? Let us know and we’ll try to make things easier!