Birth Defects

A birth defect is a physical or biochemical abnormality present at birth that may be inherited or the result of an environmental influence. Birth defects may also be caused by infections or exposure to medications, chemicals, or other agents during pregnancy.

Birth defects are structural changes present at birth that can affect almost any part or parts of the body (e.g., heart, brain, foot). They may affect how the body looks, works, or both. Birth defects can vary from mild to severe.

Birth defects can occur during any stage of a pregnancy but typically occur in the first 3 months of the pregnancy when organs are developing.  Other birth defects can occur later in the pregnancy.  These factors can include genetics, behaviors, or our physical environment.

Medical research studies have developed an understanding of some controllable factors that increase the risk of birth defects:

• • Drinking alcohol, taking certain drugs, or smoking any time

• • Pre-existing medical conditions such as obesity or diabetes

• • Taking certain medications (i.e., Isotretinoin-treatment of severe acne)

• • History of family members with birth defects

• • Running a fever greater than 101⁰ or having an elevated body temperature due to heat exposure

• • Being an older mother (geriatric pregnancy), the risk of chromosomal abnormalities increases with age

Having one or more of these risk factors does not mean your pregnancy will result in a child born with one or more birth defects. Your baby can be born with a birth defect when none of these risk factors are present. It is important to maintain your prenatal visit routine and discuss with your OBGYN.

Structural birth defects are present at birth and can be diagnosed with prenatal imaging. Genetic and chromosomal birth defects may not be diagnosed until later in childhood when specific developmental milestones have not been achieved.

Prenatal Ultrasounds are the first opportunity to detect birth defects around the 3-month mark of pregnancy. This scan can be used to look for abnormalities with the nuchal fold thickness, an area of tissue at the back of the fetus’ neck.

Genetic Screenings during your first trimester may be performed to detect pregnancy associated plasma proteins. An abnormal result shows you are at a higher risk for chromosomal birth defects.

Newborns Exams will be conducted when the baby is born. Your doctor will confirm any suspected or new birth defects.

Prenatal/Postnatal MRIs might be ordered by your doctor prior to birth to examine specific parts of the fetus or after delivery to follow up on a possible defect.

Developmental Milestones provide another way to help with an early diagnosis. For example, if your child was born with underdeveloped lungs, the doctors may have a plan in place to have your child cared for in a neonatal intensive care unit (NICU).

Not all birth defects can be prevented; however, women can increase the chances of delivering a healthy baby by managing and developing healthy behaviors before becoming pregnant.

1. Plan ahead
   • Take 400 mcgs of folic acid every day. This is a B vitamin that when present in the woman’s body one month prior to becoming pregnancy can help prevent major birth defect of the developing spine and brain.
   • See a healthcare professional regularly.
   • Receive recommended immunizations.
   • Make sure you do not have any sexually transmitted infections (STIs)
2. Avoid harmful substances
   • Only taking necessary medications that are approved by your doctor.
   • Avoid alcohol at any time during pregnancy. Alcohol in a women’s bloodstream passes through the umbilical cord. There is no known safe amount of alcohol that can be consumed during pregnancy. All types of alcohol are equally harmful, including wine and beer.
   • Avoid smoking cigarettes. The dangers of smoking during pregnancy include preterm birth, cleft lip and/or palate, and still birth. Also avoid secondhand smoke.
   • Avoid marijuana and other drugs. If you use drugs during your pregnancy, the probability of delivering a child with a birth defect increases.