A birth defect is a problem that happens while the baby is developing in the mother’s body. A birth defect may affect how the body looks, works, or both. Some birth defects can cause the baby to die. Babies with birth defects may need surgery or other medical treatments. If babies receive the necessary treatment, they may lead full lives.

When do birth defects occur?

Most birth defects happen during the first 3 months of pregnancy. A birth defect can be found before birth, at birth, or anytime after birth. Most defects are found within the first year of life. Some birth defects (such as cleft lip or clubfoot) are easy to see, but others (such as heart defects or hearing loss) are found using special tests. The most common tests used to discover birth defects are x-rays, CAT scans, or hearing tests.

The most common birth defects

One of every 33 babies is born with a birth defect. A birth defect can affect almost any part of the body. The well being of the child depends mostly on which organ or body part is involved and how much it is affected.

Many birth defects affect the heart. About 1 in every 100 to 200 babies is born with a heart defect. Heart defects make up about one-third to one-fourth of all birth defects. Some of these heart defects can be serious, and a few are very severe. In some places of the world, heart defects cause half of all deaths from birth defects in children less than 1 year of age.

Other common birth defects are “neural tube defects,” which are defects of the spine and brain. They affect about 1 of 1,000 pregnancies. These defects can be serious and are often life threatening. They happen less often than heart defects, but they cause many fetal and infant deaths.

Birth defects of the lip and roof of the mouth are also common. These birth defects include cleft lip, cleft palate, and combined cleft lip and cleft palate. Cleft lip is more common than cleft palate. In many places of the world, birth defects of the lip and roof of the mouth affect about 1 in 700 to 1,000 babies.

Some birth defects are common but rarely life threatening, though they often require medical and surgical attention. Hypospadias is a fairly common defect found in male babies. In babies with hypospadias, the opening of the urethra is not at the tip of the penis but on the underside. Treatment depends on how far away from the tip the opening is and can involve complex surgery. This defect is rarely as serious as the others listed above, but it can cause great concern and sometimes has high medical costs. It rarely causes death.

Incest and birth defects

Conception between close relatives (brother and sister or parent and child) increases the chance of a developing a birth defect to about 45%.

Dimples are birth defects

The shortened facial muscles that cause cheek and chin dimples are actually genetic birth defects. When a person with this cheek dimples smiles, the shorter muscle on the face pulls up the skin causing a dimple.

Questions to ask your doctor about birth defects

  • Is my baby at risk for any birth defects?
  • Should I take a genetic test?
  • Will I need an amniocentesis?
  • Will my baby have any long term health problems?
  • What caused my child to have the defect?
  • What body systems are involved in this birth defect?
  • How could this have been prevented?
  • If caught early enough, what treatments exist?
  • Are there statistics available on pregnancies like mine that give an overview of risks and complications and what percentage them occurred?
  • What is the prognosis for my baby?
  • What are the risks associated with this condition?