Knowledge Is Power: Lessons Learned from Your First Trimester | by Kristen Bason

First Trimester

Posted on Wed, Nov 21, 2012

When you are pregnant, you have many worries, but really only one concern: Is the baby healthy?

My first pregnancy was completely uneventful. At 33, I never gave a second thought to the multiple screenings my doctor recommended. I was blessed with normal results. My second pregnancy at 36 was the opposite experience. My doctor had more reason for concern simply based on my age and statistics. Immediately, I felt like the odds were against me. That feeling only intensified when I went in for my First Trimester Screening. I was terrified when the doctor told me it was abnormal.

Here’s what I wish someone had explained to me beforehand: Screenings do not diagnose a problem; they only signal that further testing should be done. Additionally, many women who experience an abnormal test discover later that the test results were false. Fortunately, this was the case for me. Three days later, I went in for chorionic villus sampling (CVS). After a grueling week of waiting, I finally found out that the baby was fine.

The First Trimester Screening works like this: First, a blood test evaluates the levels of two pregnancy-related hormones. Second, an ultrasound measures fluid beneath the skin behind the baby’s neck (called the nuchal translucency). The results from both are then combined with the mother’s age to determine the risk. Inadequate levels (too much and too little) of the hormones can be an indicator of a potential problem, and increased fluid found in the nuchal translucency is often associated with an increased risk for chromosomal abnormalities.

Similar to my situation, abnormal test results warrant additional testing for making a diagnosis. Your doctor or a genetic counselor will discuss the screening results and assist in deciding about diagnostic tests, such as CVS or amniocentesis.

According to Paul Wexler, MD, medical director of GENASSIST™, Inc., in Littleton, “The recommendation from the American College of OB/GYN is to offer some type of screening test for chromosomal abnormalities to all patients before 20 weeks’ gestation as well as to offer diagnostic testing regardless of the mother’s age.”

Genetic testing, specifically in the first trimester, is a decision every pregnant woman is asked to consider. Wexler says that the decision to participate in the screening should be dependent on whether or not the information would empower her in planning for the birth.

“One of the goals of optimum obstetrical care is to learn as much about the welfare of the child in a manner that poses minimal or no risk,” he says.

It is so true: Information is extremely empowering, and, more often than not, it is reassuring. This is one of the first choices you are asked to make as a mommy. On your journey into motherhood, your first trimester truly sets the stage for the remainder of your pregnancy and assures the best outcome for both you and your child.

  • Approximately 85 out of every 100 babies affected by the abnormalities addressed by the screen will be identified.
  • Approximately 5% of all normal pregnancies will receive a positive result or an abnormal level.
  • A positive test means that you have a 1/100 to 1/300 chance of experiencing one of the abnormalities.

Why pursue additional diagnostic testing:

  • To explore options for intervention if necessary (e.g., fetal surgery for spina bifida)
  • To plan for a child with special needs
  • If anticipate lifestyle changes
  • Can identify support groups and resources in advance of birth
  • Can better decide about carrying the child to term

Why some may not pursue additional testing:

  • Comfort with the results no matter what the outcome
  • Because of personal, moral, or religious reasons, making a decision about carrying the child to term is not an option.
  • Some parents choose not to allow any testing that poses any risk of harming the developing baby.

For more information: www.acog.org

(New England Journal of Medicine)

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