Birth defect

A birth defect is a condition that a baby is born with. It can change how the body looks or works. These changes can be small or big. Birth defects can be in the shape of a body part or in how a body part works. Some problems might also affect how the body uses energy or grows over time.

Birth defects can happen because of genes, problems with chromosomes, or because of things like medicines, chemicals, or sicknesses during pregnancy. Things that may increase the chance of a birth defect include not having enough folate, drinking alcohol, or smoking while pregnant. Having diabetes that is not well managed can also be a risk. Being over 35 years old when pregnant may also play a role. Often, several things together cause birth defects. Some problems can be seen right away. Others are found later with special tests.

Treatment for birth defects depends on what the problem is. It might include therapy, medicine, surgery, or assistive technology. Many people live with birth defects and do well with the right care. Some serious birth defects can affect health more, like congenital heart disease or neural tube defects.

Classification

Birth defects are health problems a baby is born with. They can change how the body looks or work. Some problems are small, like an extra finger. Others are bigger, like a split in the roof of the mouth (cleft palate).

These issues can affect the heart, brain, or stomach. They often happen because of things from genes and the environment.

Causes

Birth defects are unusual conditions a baby is born with. They can cause disabilities, which may be small or serious. These disabilities might affect the body, thinking skills, or both.

Alcohol exposure

If a mother drinks alcohol while pregnant, it can cause lasting birth defects. These may affect the brain, heart, kidneys, and bones. There is no safe amount of alcohol during pregnancy.

Toxic substances

Some harmful substances can cause birth defects. These include certain medicines, toxins in the environment, and some drugs. For example, the medicine thalidomide, used in the 1950s, caused serious birth defects in many babies.

Infections

Infections a mother passes to her baby during pregnancy can cause birth defects. For example, the rubella virus can cause problems with the eyes, ears, and heart.

Malnutrition

Not getting enough nutrients, like folic acid, during pregnancy can lead to birth defects. These may include problems with the spine or brain.

Genetics

Genetic problems, such as abnormal genes or new changes in genes, can cause birth defects. These may affect one part of the body or many areas.

Socioeconomics

Living in areas with fewer resources can increase the risk of birth defects. This is often because of harmful surroundings or stress.

Radiation

Radiation exposure has not been shown to cause many birth defects in later generations. But some studies suggest possible links in certain situations.

Parent's age

Having a baby at an older age, especially for the mother, can increase the risk of some birth defects. The father's age can also play a role, as older fathers may pass on more genetic changes.

Prevention

Taking folate supplements can help lower the chance of some birth defects called neural tube defects. There is some early evidence that a substance called L-arginine might also help prevent problems with a baby’s growth inside the womb.

Screening

Main article: Newborn screening

Newborn screening tests help find health problems in babies soon after they are born. These tests began in the 1960s and now check for many different conditions. They use a small blood sample from the baby to look for signs of disorders that can be treated early. Finding these problems quickly lets doctors start special care, like special food or medicine, to help the baby stay healthy.

Screening can also happen before a baby is born. Doctors can use special scans, like ultrasound, to look at the baby’s development and find any possible issues. These scans show detailed pictures that help doctors plan the best care for the baby.

Epidemiology

Congenital anomalies are conditions that children are born with. Some of these can affect how the body works or how a child looks.

Some birth defects happen more often in boys, and some happen more often in girls. For example, pyloric stenosis happens more in boys, while congenital hip dislocation happens more in girls.

These conditions can sometimes cause health problems for babies.