Preventing Birth Defects


P is for Plan Ahead: Start taking a prenatal vitamin that has at least 400 mpg folic acid in it before you even start the process of trying to conceive. Folic acid helps to prevent major birth defects of the brain and spine, specifically spina bifida. If there isn’t enough of this circulating in a woman’s body during the early weeks of pregnancy—before she even knows she’s pregnant—then there is a higher chance the baby could have these types of defects.

A is for Avoid Harmful Substances:
    -Avoid alcohol of any type in any amount at all times during pregnancy and when you’re trying to conceive. Alcohol consumption during pregnancy can cause miscarriage, stillbirth, and a range of disabilities for the child called fetal alcohol spectrum disorders.
    -Avoid smoking. The risks associated with smoking include preterm delivery, birth defects like cleft lip and palate, and infant death. If your own health isn’t a good enough reason to quit, let your baby’s health be a motivation for you. Everyone in the home should quit because there are dangers associated with second hand smoke. It’s never too late to quit.
    -Avoid illicit street drugs (including marijuana).
    -Also check with your doctor before taking any over-the-counter or prescription medications, as well as herbal supplements to see if they’re safe during pregnancy.

C is for Choose a Healthy Lifestyle: check with your doctor before trying to conceive to see if you have any medical conditions that need to get under control before having a baby. These include high blood pressure, diabetes, thyroid problems, and obesity. All of these increase the chances of birth defects and complications for both you and the baby.

T is for Talk with your Healthcare Provider:
Don’t be scared to ask questions and to be honest about your health history. Talk with your doctor about past infections and vaccines that will help you and the baby to be healthy during pregnancy. These include the flu shot and a Tdap shot (tetanus, diptheria, and pertussis booster).

Pregnancy is an exciting time, but can also be stressful. By doing these things, you can have peace of mind knowing you did all you can to increase the chances of having a healthy baby.

While making a PACT before pregnancy can help with what can be prevented on the other side of the coin are things out of your control.

What are the genetic and environmental causes of birth defects?

When a baby is born with a birth defect, it can be very upsetting for parents because it is normal to seek an answer as to why your baby has a health problem. For some birth defects, however, there is a known cause, which may have to do with either genetic or environmental factors, or a combination of the two. Here is some general information and terms related to the different causes of birth defects:

  • Inheritance: Inheritance is a trait given to you or "passed on" to you from one of your parents. Examples of inherited traits would be your eye color or blood type.
  • Chromosome abnormalities: Chromosomes are stick-like structures in the center of each cell (called the nucleus) that contain your genes.
  • Single gene defects: Genes are what determine your traits. Sometimes, a child can inherit not only those genes responsible for their normal traits such as the color of their eyes, but also disease causing genes that result in a birth defect.
  • Multifactorial inheritance: Multifactorial inheritance means that "many factors" (multifactorial) are involved in causing a birth defect. The factors are usually both genetic and environmental.
  • Teratogens: A teratogen is an agent, which can cause a birth defect. It is usually something in the environment that the mother may be exposed to during her pregnancy. It could be a prescribed medication, a street drug, alcohol use, or a disease that the mother has, which could increase the chance for the baby to be born with a birth defect.

How are birth defects diagnosed?

Many birth defects can be diagnosed before birth with special tests (prenatal diagnosis). Chromosomal abnormalities such as Down syndrome can be diagnosed before birth by analyzing cells in the amniotic fluid or from the placenta. Fetal ultrasound during pregnancy can also give information about the possibility of certain birth defects, but ultrasound is not 100 percent accurate, since some babies with birth defects may look the same on ultrasound as those without problems. A chromosome analysis, whether performed on a blood sample or cells from the amniotic fluid or placenta, is very accurate.

Tests to screen for birth defects:

Alpha-fetoprotein: This blood test measures the levels of alpha-fetoprotein (AFP), a protein released by the fetal liver and found in the mother's blood. AFP is sometimes called MSAFP (maternal serum AFP). AFP screening may be included as one part of a two, three, or four-part screening, often called a multiple marker screen. The other parts may include the following:

HCG: Human chorionic gonadotropin (hCG) is a hormone secreted by the early placental cells. High hCG levels may indicate a fetus with Down syndrome (a chromosomal abnormality that includes intellectual disability and distinct physical features).

Estriol: A hormone produced by the placenta and by the fetal liver and adrenal glands. Low levels may indicate a fetus with Down syndrome.

Inhibin: A hormone produced by the placenta.

Nuchal translucency screening: An ultrasound test usually performed in the late first trimester. Thickening of the area at the back of the fetal neck may indicate an increased risk for Down syndrome or other chromosomal problems.

Chorionic villus sampling (CVS): A prenatal test that involves taking a sample of some of the placental tissue. This tissue contains the same genetic material as the fetus and can be tested for chromosomal abnormalities and some other genetic problems. Testing is available for other genetic defects and disorders depending on the family history and availability of laboratory testing at the time of the procedure. In comparison to amniocentesis (another type of prenatal test), CVS does not provide information on neural tube defects, such as spina bifida. For this reason, women who undergo CVS also need a follow-up blood test between 16 to 18 weeks of their pregnancy, to screen for neural tube defects.

Amniocentesis: A procedure used to obtain a small sample of the amniotic fluid that surrounds the fetus to diagnose chromosomal disorders and open neural tube defects (ONTDs), such as spina bifida. Testing is available for other genetic defects and disorders depending on the family history and availability of laboratory testing at the time of the procedure. The American College of Obstetricians and Gynecologists recommends amniocentesis around 15 weeks to 20 weeks of pregnancy for those women who are at increased risk for chromosome abnormalities, such as women who are over age 35 years of age at delivery, or those who have had an abnormal maternal serum screening test, indicating an increased risk for a chromosomal abnormality or neural tube defect.

Ultrasound: A diagnostic technique that uses high-frequency sound waves to create an image of the internal organs. Many birth defects can be detected with ultrasound.

The best path to understanding birth defects is to have an open dialogue with your doctor. Your doctor will be able to share information about tests, mom and baby safety, and other risks associated with pregnancy.