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What Couples Should Know About Prenatal Testing

A pregnant woman sitting on and being embraced by a man is holding small baby shoes

(BPT) – So you’ve decided to take the leap into parenthood. To give yourself the best chance for a healthy pregnancy and a healthy baby, there are some important options to consider before you head down the road to conception and once you learn you are pregnant.Parents-to-be are often faced with numerous decisions before and during pregnancy and it isn’t always easy to sort through your options or to know which screenings and tests will yield the most information with the least amount of risk.

You may have heard the terms “screening,” “testing” and “diagnostics,” but do you know what they really mean? You may be aware your options range from blood draws to invasive procedures, like an amniocentesis, but do you know the risks and benefits of each? As you’re navigating the complex world of prenatal care, it helps to know your options.

Screening tests

Screening tests are designed to provide information about your risk, not to necessarily diagnose a condition. These tests are often as simple as giving a blood sample for analysis. In some pregnancies, a screening test might combine a blood sample and ultrasound.

Armed with information resulting from a screening test, parents and doctors can make decisions about whether a more invasive diagnostic test, such as chorionic villus sampling (CVS), or amniocentesis is recommended. Screening tests can benefit all parents, and may be especially useful for moms older than 35 or couples who may have genetic-related health problems in their family histories. It is always important to discuss screening test results with your doctor.

Even before a couple becomes pregnant, genetic carrier screenings, such as Horizon Multi-Disease Carrier Screening, can help determine whether one or both parents carry specific genetic disorders. Horizon screens for autosomal recessive and X-linked conditions.Since carriers for genetic diseases are often healthy themselves and may have no family history of a genetic disease, a carrier test may be the only way they can assess their risk of passing on a genetic disease to a baby. If both partners are carriers for a recessive condition, they have a one in four chance of having a child affected with that condition. For X-linked conditions, only the mother needs to be a carrier to pass along an X-linked condition to a child, and the chance can be as high as one in two to have an affected child.

During the early pregnancy stage, a non-invasive prenatal screening test, like Panorama, can offer an accurate, easy and non-invasive way to gather important health information about the baby. As early as nine weeks, the blood test can provide information on the risk of serious chromosomal abnormalities such as Down syndrome, and can also detect the baby’s gender.

Another screening tool is a maternal serum screening test. This blood test is available to pregnant women in their first or second trimester of pregnancy, and can identify if a pregnant woman is at increased risk of having a baby with Down syndrome, Edwards syndrome (Trisomy 18) or neural tube defects such as spina bifida.

While most insurers cover the cost of screening tests, you should check with yours to be sure. In addition, always thoroughly discuss screening test results with your doctor before making any health decisions. Depending on the results of your screening tests, your doctor may recommend a more invasive diagnostic test.

Diagnostic tests

Generally, diagnostic tests are offered during pregnancy if a couple and their doctor have reason to believe a baby is at higher risk for a health problem. Doctors may recommend tests for mothers older than 35 and couples whose screening tests have indicated a concern. The most common diagnostic tests include:

  • Ultrasound – Also known as sonography, ultrasound uses high-frequency sound waves to create images of the baby inside a mother’s uterus. Although it’s considered a diagnostic test, it’s generally non-invasive and presents little or no risk to the mother or baby. An ultrasound can give health care providers a great deal of information, including if the baby is developing normally, if the placenta and amniotic fluid are normal, and if there are signs of birth defects that may indicate a genetic problem.
  • Chorionic villus sampling (CVS) – An invasive diagnostic test, chorionic villus sampling involves removing a tiny piece of the placenta for testing. The test can detect abnormalities such as Down syndrome. Risks associated with chorionic villus sampling range from infection to miscarriage, so it’s important to discuss the test with your doctor to get the best possible picture of the risks and benefits.
  • Amniocentesis (Amnio) – Another type of invasive diagnostic test, an amnio involves taking a small amount of amniotic fluid from the sack that surrounds the baby during pregnancy and testing for chromosome abnormalities or known single gene disorders, like cystic fibrosis. If a couple and their doctor have reason to believe the baby is at significant risk for genetic diseases, they may decide to do this invasive diagnostic test. Although rare, complications can occur and may be as severe as miscarriage.

Starting a family can be an exciting, joyous adventure for a couple, and screening and diagnostic tests can help them make informed healthcare decisions for the mother and baby. Always discuss screening tests and test results with your doctor before making any decisions. For more information on genetic prenatal tests, please go to

Tomah Health