Birth Defects

Birth defects can be a result of:

• genetics
• lifestyle choices and behaviors
• exposure to certain medications and chemicals
• infections during pregnancy
• a combination of these factors

However, the exact causes of certain birth defects are often unknown.

Genetics

The mother or father may pass on genetic abnormalities to their baby. Genetic abnormalities occur when a gene becomes flawed due to a mutation, or change. In some cases, a gene or part of a gene might be missing. These defects happen at conception and often can’t be prevented. A particular defect may be present throughout the family history of one or both parents.

Nongenetic causes

The causes of some birth defects can be difficult or impossible to identify. However, certain behaviors greatly increase the risk of birth defects. These include smoking, using illegal drugs, and drinking alcohol while pregnant. Other factors, such as exposure to toxic chemicals or viruses, also increase risk.

All pregnant women have some risk of delivering a child with a birth defect. Risk increases under any of the following conditions:

• family history of birth defects or other genetic disorders
• drug use, alcohol consumption, or smoking during pregnancy
• maternal age of 35 years or older
• inadequate prenatal care
• untreated viral or bacterial infections, including sexually transmitted infections
• use of certain high-risk medications, such as isotretinoin and lithium

Women with pre-existing medical conditions, such as diabetes, are also at a higher risk of having a child with a birth defect.

Birth defects are typically classified as structural or functional and developmental.

Structural defects are when a specific body part is missing or malformed. The most common structural defects are:

• heart defects
• cleft lip or palate, when there’s an opening or split in the lip or roof of the mouth
• spina bifida, when the spinal cord doesn’t develop properly
• clubfoot, when the foot points inward instead of forward

Functional or developmental birth defects cause a body part or system not to work properly. These often cause disabilities of intelligence or development. Functional or developmental birth defects include metabolic defects, sensory problems, and nervous system problems. Metabolic defects cause problems with the baby’s body chemistry.

The most common types of functional or developmental birth defects include:

• Down syndrome, which causes delay in physical and mental development
• sickle cell disease, which occurs when the red blood cells become misshapen
• cystic fibrosis, which damages the lungs and digestive system

Some children face physical problems associated with specific birth defects. However, many children show no visible abnormalities. Defects can sometimes go undetected for months or even years after the child is born.

Many types of birth defects can be diagnosed during pregnancy. A healthcare professional can use prenatal ultrasounds to help them diagnose certain birth defects in utero. More in-depth screening options, such as blood tests and amniocentesis (taking a sample of the amniotic fluid), may also be done. These tests are usually offered to women who have higher-risk pregnancies due to family history, advanced maternal age, or other known factors.

Prenatal tests can help determine whether the mother has an infection or other condition that’s harmful to the baby. A physical examination and hearing test may also help the doctor diagnose birth defects after the baby is born. A blood test called the newborn screen can help doctors diagnose some birth defects shortly after birth, before symptoms occur.

It’s important to know that prenatal screening doesn’t always find defects when they’re present. A screening test can also falsely identify defects. However, most birth defects can be diagnosed with certainty after birth.

Treatment options vary depending on the condition and level of severity. Some birth defects can be corrected before birth or shortly after. Other defects, however, may affect a child for the rest of their life. Mild defects can be stressful, but they don’t typically affect overall quality of life. Severe birth defects, such as cerebral palsy or spina bifida, can cause long-term disability or even death. Speak with your doctor about the appropriate treatment for your child’s condition.

Medications: Medications may be used to treat some birth defects or to lower the risk of complications from certain defects. In some cases, medication may be prescribed to the mother to help correct an abnormality before birth.

Surgeries: Surgery can fix certain defects or ease harmful symptoms. Some people with physical birth defects, such as cleft lip, may undergo plastic surgery for either health or cosmetic benefits. Many babies with heart defects will need surgery, as well.

Home care: Parents may be instructed to follow specific instructions for feeding, bathing, and monitoring an infant with a birth defect.

Many birth defects can’t be prevented, but there are some ways to lower the risk of having a baby with a birth defect. Women who plan to become pregnant should start taking folic acid supplements before conception. These supplements should also be taken throughout the pregnancy. Folic acid can help prevent defects of the spine and brain. Prenatal vitamins are also recommended during pregnancy.

Women should avoid alcohol, drugs, and tobacco during and after pregnancy. They should also use caution when taking certain medications. Some medications that are normally safe can cause serious birth defects when taken by a pregnant woman. Make sure to tell your doctor about any medications you may be taking, including over-the-counter drugs and supplements.

Most vaccines are safe during pregnancy. In fact, some vaccines can help prevent birth defects. There is a theoretical risk of harm to a developing fetus with some live-virus vaccines, so these kinds should not be given during pregnancy. You should ask your doctor which vaccines are necessary and safe.

Maintaining a healthy weight also helps reduce the risk of complications during pregnancy. Women with pre-existing conditions, such as diabetes, should take special care to manage their health.

It’s extremely important to attend regular prenatal appointments. If your pregnancy is considered high risk, your doctor can do additional prenatal screening to identify defects. Depending on the type of defect, your doctor may be able to treat it before the baby is born.

Genetic counseling

A genetic counselor can advise couples with family histories of a defect or other risks factors for birth defects. A counselor may be helpful when you’re thinking about having children or already expecting. Genetic counselors can determine the likelihood that your baby will be born with defects by evaluating family history and medical records. They may also order tests to analyze the genes of the mother, father, and baby.