Do I need genetic counseling or other testing in pregnancy if my first trimester prenatal screen is normal? --Teresa Brady, MS, CGC

Pregnancy is an exciting time! You get to hear the baby's heartbeat, feel the first movements and see the first pictures by ultrasound. It is also a time when it's important to take good care of yourself which includes being followed by your health care provider who will perform medical tests to know how you and your baby are doing. Many obstetrical practices offer first trimester nuchal translucency screening to their patients to determine the chance that a pregnancy is affected with Down syndrome, trisomy 18, or trisomy 13. Most women receive results that indicate their baby has a very low chance to be affected with one of these conditions. This is great news! However, normal first trimester screening does not completely rule out these conditions; it only reduces the chance that a problem is present. This screen also does not provide information about other medical conditions that may affect a baby's health.

The choice to proceed with further testing depends on many personal factors, including the information you would like to have regarding the health of your baby prior to delivery and how that information might be helpful to you. Some women elect additional testing to obtain further reassurance regarding their baby's health. Sometimes test results can provide information about what level of care will be needed for a baby, helping women decide where they should deliver. In other cases, additional results change the management plan for a pregnancy to optimize a healthy outcome or provide parents time to prepare for the birth of a baby with additional medical needs.

You should also consider any risk factors you have that increase the chance for a medical problem during pregnancy when deciding whether to proceed with additional testing. Women who are 35 years or more at delivery have an increased chance for having a baby affected with a chromosome abnormality, a risk that is not eliminated by a normal first trimester screen result. Sometimes there is a maternal condition such as diabetes or seizure disorder, or a family history of a birth defect or genetic problem that warrants additional testing. Other indications for further evaluation include prenatal medication or infection exposure or a complicated obstetrical history such as multiple miscarriages.

Women with any of these risk factors should consider additional services such as:

  • Genetic counseling: Genetic counseling services are available any time during pregnancy or even prior to pregnancy for women who are interested in more information about available testing options. Board certified genetic counselors can also identify and address many of the risk factors mentioned above through a careful review of a couple's medical, family and obstetrical history. This information, testing options and available resources are provided in a supportive, caring manner so that you can be empowered to make informed decisions that fit your needs.
  • Level II ultrasound evaluation: This ultrasound is indicated for women who have an increased chance for a pregnancy to be affected with a birth defect, chromosome abnormality, or other adverse outcome. A level II ultrasound is performed at a specialized center such as the Women's Institute to obtain a detailed evaluation of a baby's anatomy or physical features.
  • Chorionic villus sampling (CVS) or Amniocentesis: Some women are interested in obtaining a definitive answer regarding whether a baby is affected with a chromosome abnormality and elect to proceed with a CVS or amniocentesis, regardless of their screen results. These procedures can sometimes, if indicated, also test for other conditions that affect a family member. The Maternal Fetal Medicine (MFM) physicians at the Women's Institute have a great amount of experience performing the CVS and amniocentesis, keeping the associated risk of miscarriage low.

Please speak with your prenatal health care provider if you think that you should be referred for one or more of these services. We also would be glad to discuss with you further about whether these options would be right for you. Appointments are available for all of these services at our three Women's Institute locations. We look forward to being a part of this exciting time in your life!

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