Birth defects are structural changes that are present at birth. They may affect how the body looks, works or both.
Birth defects can cause problems in overall health, how the body develops or how the body works. They may range from mild to serious conditions.
There are things you can do before and during pregnancy to help reduce your risk of having a baby with a birth defect.
Birth defects may be diagnosed in a baby during pregnancy or after birth.
If your baby has a birth defect, she may need a team of health care providers who work together to give her special medical care.
What are birth defects?
Birth defects are structural changes present at birth that can affect almost any part of the body. They may affect how the body looks, works or both. Birth defects can cause problems in overall health, how the body develops or how the body works. Birth defects may range from mild to serious health conditions.
Birth defects can happen at any time during pregnancy. But most happen during the first 3 months of pregnancy (also called first trimester), when your baby’s organs are forming. Birth defects also can happen later in pregnancy, when your baby’s organs are still growing and developing.
About 1 in 33 babies (about 3 percent) is born with a birth defect in the United States each year. Some birth defects don’t need treatment or can be treated easily. But other birth defects need quick treatment because they cause serious problems or even death.
What are examples of birth defects?
Examples of birth defects include:
Cleft lip and cleft palate. Cleft lip and cleft palate are birth defects in a baby’s lip and mouth. Usually, babies can have surgery to repair cleft lip or cleft palate. They may need more surgery, special dental care and speech therapy as they get older. Speech therapy is therapy to teach your child how to speak more clearly or communicate in other ways.
Clubfoot. Clubfoot is a birth defect of the foot. It’s when a baby’s foot turns inward so that the bottom of the foot faces sideways or even up. Clubfoot doesn’t improve without treatment. Treatment may include pointing, stretching, casting the foot and using braces. With early treatment, most children with clubfoot can walk, run and play without pain.
Congenital heart defects (also called CHDs). These are heart conditions that a baby is born with. They can affect the heart’s shape or how it works or both. CHDs are the most common types of birth defects. They can be mild or serious. Critical congenital heart defects (also called critical CHDs or critical congenital heart disease) are the most serious CHDs. Babies with critical CHDs need surgery or other treatment within the first year of life. Without treatment, critical CHDs can cause serious health problems and death.
Gastroschisis. This is a birth defect of the abdominal (belly) wall. A baby is born with his intestines, and sometimes other organs, outside of the body. Gastroschisis happens when the muscles that make up the abdominal wall don’t connect properly, forming a hole beside the belly button. A baby with gastroschisis needs surgery soon after birth to put his organs back in place and repair the hole.
Hearing loss. This is a common birth defect that can affect a baby’s ability to develop speech, language and social skills. Hearing loss can happen when any part of the ear isn’t working in the usual way. Treatment depends on the cause of the hearing loss and whether hearing loss is mild or severe. Some babies with hearing loss may need hearing aids, medicine, surgery or speech therapy.
Microcephaly. Microcephaly is when a baby’s head is smaller than expected, compared to babies of the same sex and age. Babies with mild microcephaly often don’t have problems other than small head size. A baby with severe microcephaly has a head that’s much smaller than expected and may have more serious health problems. Severe microcephaly can happen if a baby’s brain doesn’t develop properly during pregnancy or if the brain starts to develop correctly but is damaged during pregnancy. Babies with severe microcephaly may need special care and treatment, like surgery. Some need medicines to treat seizures or other health problems.
Neural tube defects (also called NTDs). NTDs are birth defects of the brain, spine (backbone) and spinal cord. The spinal cord carries signals back and forth between your body and your brain. The most common NTD is spina bifida. Spina bifida happens when the spinal cord or bones in the spine don’t form correctly, leaving a gap or opening. Spina bifida can cause serious health problems for babies, like fluid on the brain and being paralyzed. Babies with spina bifida may need surgery or other special treatments.
What causes birth defects?
We don’t know exactly what causes most birth defects, but some things may make you more likely than others to have a baby with a birth defect. These are called risk factors. Having a risk factor doesn’t mean for sure that your baby will be affected. But it may increase your chances. These things may play a role in increasing your risk of having a baby with a birth defect:
- Changes in genes or chromosomes. Some babies have birth defects because of changes in their genes (also called mutations) or chromosomes. Genes are part of your body’s cells that store instructions for the way your body grows and works. Genes are passed from parents to children. Chromosomes are the structures that hold genes. Some birth defects also run in families.
- Things in your environment. Your environment is all the things you come in contact with that affect your everyday life. This includes where you live, where you work, the kinds of foods you eat and how you like to spend your time. Some things in your environment can be harmful to your baby during pregnancy, like cigarette smoke or harmful chemicals.
- Having certain health conditions. Some health conditions, like preexisting diabetes, can increase your baby’s risk of having a birth defect. Diabetes is a medical condition in which your body has too much sugar (called glucose) in your blood. Preexisting means you had diabetes before you got pregnant. Diabetes can damage organs in your body, including blood vessels, nerves, eyes and kidneys.
- Taking certain medicines before or during pregnancy. Taking certain medicines, like isotretinoin, can increase the risk of your baby having a birth defect. Isotretinoin is a medicine used to treat acne.
- Smoking, drinking alcohol or using street drugs during pregnancy. Doing any of these things during pregnancy can cause problems for your baby, including birth defects.
- Getting certain infections during pregnancy. Some infections during pregnancy can increase the risk of your baby having birth defects and other problems. For example, if you have Zika infection during pregnancy, your baby may be at increased risk of having microcephaly.
- Your age. If you are 34 years old or older, you may be at increased risk of having a baby with a birth defect.
Can you prevent birth defects?
Not all birth defects can be prevented. But there are things you can do to help reduce the risk of your baby having a birth defect and increase your chances of having a healthy baby.
Here’s what you can do:
Get a preconception checkup. This is a medical checkup you get with your prenatal care provider before pregnancy to help make sure you’re healthy when you get pregnant. Go for this checkup before you start trying to get pregnant.
Ask your health care provider if your vaccinations are up to date before you try to get pregnant. Some vaccinations protect you from infections that can cause birth defects. For example, rubella is an infection that can cause hearing loss, heart defects and other health problems for your baby. The MMR vaccine protects against measles, mumps and rubella. If you don’t have a record of your vaccinations, your provider can check your immunity (protection) for rubella with a blood test. If you need the MMR vaccination, wait at least 4 weeks after you get the shot before you try to get pregnant.
Take folic acid. Take a vitamin supplement that has 400 micrograms (mcg) of folic acid in it every day. Folic acid is a B vitamin that every cell in your body needs for normal growth and development. Taking folic acid before and during early pregnancy can help prevent NTDs in your baby.
Learn about your genes and your family health history. If you, your partner, your children or someone in your families has a birth defect, you may want to see a genetic counselor. This is a person who is trained to help you understand about genes, birth defects and other medical conditions that run in families and how they can affect your health and your baby’s health. Use our March of Dimes Family Health History Form to collect information about health conditions in your family. Share the form with your genetic counselor or health care provider.
Work with your health care provider to manage chronic health conditions. If you have a chronic health condition, like diabetes, work with your health care providers to manage your condition and treatment (including medicine) before pregnancy. For example, if you have preexisting diabetes, work to get it under control 3 to 6 months before pregnancy. Monitor your blood sugar, take your diabetes medicine, eat healthy foods and be active every day.
Talk to your provider about medicines you take. Certain medicines you take may increase your baby’s risk of having a birth defect. Tell your provider about any prescription medicines, over-the-counter (OTC) medicines, supplements and herbal products you take. If a medicine you take may be harmful to your baby, you may be able to change to one that’s safer before or during pregnancy. But some medicines may be critical to your own health, even if they may affect your baby. You and your provider can weigh the benefits and risks of medicine you take to give you the healthiest possible pregnancy. Don’t start or stop taking any medicine without talking to your health care provider first.
Get to a healthy weight. Being obese (very overweight) can increase your baby’s chances of having birth defects like NTDs, heart defects and cleft palate. If you’re obese, you have an excess amount of body fat and your body mass index (BMI) is 30 or higher. To find out your BMI, go to www.cdc.gov/bmi. Eating healthy foods and doing something active every day can help you get to a healthy weight.
Here’s what you can do:
Get early and regular prenatal care. This is medical care you get during pregnancy. At each prenatal care checkup, your provider checks on you and your growing baby. Call your provider and go for your first prenatal care checkup as soon as you know you’re pregnant. And go to all of your prenatal care checkups, even if you’re feeling fine. If you have a chronic health condition, work together with your prenatal care provider and other providers to manage your condition during pregnancy.
Take folic acid. During pregnancy, take a prenatal vitamin that has 600 mcg of folic acid in it every day.
Make sure any provider who prescribes you medicine knows you’re pregnant. Don’t start or stop taking any medicine (including OTC medicines, supplements and herbal products) during pregnancy without talking to your provider first. Doing this can cause serious problems for you and your baby. For example, talk to your provider before taking a vitamin A supplement. Getting too much vitamin A can increase your baby’s risk of having a birth defect.
Don’t smoke, drink alcohol or use street drugs. Doing these things during pregnancy can cause many problems for your baby, including birth defects. If you need help to quit, ask your provider for help or visit the Substance Abuse and Mental Health Services Administration (SAMSHA) Treatment Services Locator to find services near you.
Avoid harmful substances in your environment. Here’s what you can do:
- Talk to your boss if you come in contact with harmful substances at work, like strong chemicals, pesticides, lead, radiation or chemotherapy medicines. Ask about making changes to your job or doing different work while you’re pregnant.
- Avoid secondhand smoke during pregnancy. Secondhand smoke is smoke you breathe in from someone else’s cigarette, cigar, pipe or other tobacco product.
- Don’t eat fish that contain large amounts of mercury during pregnancy. Mercury is a metal that can harm your baby. Fish with high amounts of mercury include swordfish, shark, king mackerel and tilefish.
Prevent infections. Here are some ways to prevent infections:
- Don’t travel to areas where Zika virus is spreading. If you do travel to a Zika-affected area, learn how to prevent mosquito bites. This is the most common way Zika spreads.
- Protect yourself from toxoplasmosis. This is an infection caused by a parasite that lives in soil. You can get infected by eating raw or undercooked meat or unwashed vegetables. You also can get it by touching cat poop. It can cause problems, like body aches, headache, fatigue (being really tired) or fever. If you’re infected for the first time during pregnancy or just before pregnancy, you can pass the infection to your baby. Toxoplasmosis can cause birth defects like hearing loss. To reduce your risk of getting toxoplasmosis, prepare food safely, wear gloves when you touch soil, avoid contact with animal poop and have someone else change your cat’s litter box.
- Protect yourself from cytomegalovirus (also called CMV). CMV is a common infection caused by a virus. It spreads through body fluids like saliva and urine. If you’re infected for the first time during pregnancy, you can pass it to your baby. This increases the chances of your baby having birth defects like microcephaly and hearing loss. To reduce your risk of CMV infection, wash your hands often, wear gloves when changing diapers and don’t share food and utensils with babies and young children.
How do you know if your baby has a birth defect?
A birth defect may be found before birth or any time after birth. Most birth defects are diagnosed during the first year of your baby’s life, but some may not be found until later in life. Some birth defects, like clubfoot, are easy to see. Others, like hearing loss, are found using special tests.
Checking for birth defects during pregnancy
You may have prenatal tests (medical tests you get during pregnancy) to check your baby for birth defects. These may include screening tests and diagnostic tests. A screening test is a medical test to see if you're at risk or if your baby is at risk for certain health conditions, like birth defects. A diagnostic test is a medical test to see if you do or don't have a certain health condition. If a screening test shows your baby is at high risk for a birth defect, your provider may recommend a diagnostic test to confirm the results.
Tests to screen for birth defects include blood tests and ultrasound. Ultrasound uses sound waves and a computer screen to show a picture of your baby inside the womb. Tests used to diagnose birth defects may include amniocentesis (also called amnio). This test takes some amniotic fluid from around your baby in the uterus (womb) to check for birth defects and genetic conditions in your baby. You can get this test at 15 to 20 weeks of pregnancy.
Your provider may recommend other tests if there are any signs your baby may have a birth defect. For example, a fetal echocardiogram (also called fetal echo) checks your baby’s heart and sometimes can find congenital heart defects. This test uses ultrasound to make a picture of your baby’s heart while still womb.
Learn more about prenatal tests that check for birth defects in babies.
Checking for birth defects after birth
Some birth defects, like clubfoot, cleft lip, cleft palate or microcephaly, can be seen when a baby is born and diagnosed with a physical exam.
Your baby’s provider uses newborn screening tests to check for serious but rare and mostly treatable health conditions at birth. These conditions include birth defects, like critical CHDs. Newborn screening tests include blood, hearing and heart screening. All babies in the United States get newborn screening. Your baby gets these tests before she leaves the hospital after birth, when she’s 1 to 2 days old. If your baby isn't born in a hospital, talk to her provider about getting newborn screening at 1 to 2 days of age. Some states require that babies have newborn screening again at about 2 weeks of age.
There are three parts to newborn screening:
- Blood test. Most newborn screening is done with a blood test. A health care provider pricks your baby’s heel to get a few drops of blood. He collects the blood on a special paper and sends it to a lab for testing. This test looks for genetic conditions.
- Hearing screening. This test checks for hearing loss. For this test, a health care provider places tiny earphones in your baby’s ears and uses special computers to check how he responds to sound.
- Heart screening. Babies are checked for critical CHDs using a test called pulse oximetry. It checks the amount of oxygen in your baby’s blood by using a pulse oximeter machine and sensors placed on your baby’s skin. Low levels of oxygen can be a sign of a heart defect. Pulse oximetry can find many but not all critical CHDs. Your baby’s provider also may find a heart defect by doing a physical exam.
Most newborn screening results are normal. If your baby’s screening results aren’t normal, it may simply mean he needs more testing. Your baby’s provider then recommends another kind of test, called a diagnostic test, to see if there is a health problem. If the diagnostic test results are normal, no more testing is needed. If the diagnostic test results are not normal, your provider can guide you about next steps for your baby.
If a health condition is found early with newborn screening, it often can be treated. Early treatment is important, because it may help prevent more serious health problems for your baby.
How can birth defects affect your baby’s health and development?
Some birth defects are mild and can be treated without causing lasting problems for your baby. Other birth defects can cause serious problems or even death, depending on what body part is involved and how much it is affected. Birth defects can cause physical problems, intellectual and developmental disabilities, or both. Intellectual and developmental disabilities are problems with how the brain works that can cause a person to have trouble or delays in physical development, learning, communicating, taking care of himself or getting along with others.
Babies with birth defects often need special medical care and treatments, like medicines or surgery. Sometimes babies need assistive devices, like a hearing aid for hearing loss. Babies with birth defects also may need special therapies, like speech therapy.
Early treatment for birth defects is important to prevent more serious health problems. If your baby has a birth defect, she may need a team of providers who work together to give her the best all-around care.
What health care providers treat birth defects?
Your baby’s medical care and the team of health care providers involved depend on your baby’s birth defect and her overall health. Your baby’s providers work together to make sure she gets the medical checkups and treatment she needs. Depending on your baby’s condition, she may need long-term treatment. Your baby’s teams of health care providers may include:
Providers who lead a baby’s medical care team
- Pediatrician. This doctor has training to take care of babies and children.
- Family practice doctor (also called a family physician). This doctor takes care of every member of the family. A family practice doctor can be your health care provider before, during and after pregnancy, and your baby's provider, too.
- Neonatologist. This doctor takes care of sick newborns, including premature babies (born before 37 weeks of pregnancy) and babies with birth defects.
- Pediatric nurse practitioner (also called PNP). This registered nurse has advanced training to take care of babies and children.
- Family nurse practitioner (also called FNP). This registered nurse has advanced training to take care of every member of your family.
Providers who treat digestion and feeding conditions
- Gastroenterologist. This doctor treats digestion and feeding problems. Digestion is the process of how your baby’s body breaks down food after she eats.
- Lactation consultant. This person is trained to help women breastfeed, even women who have breastfeeding problems.
- Nutritionist. This person can help make sure your baby gets all the nutrients she needs for healthy growth and development.
Providers who treat eye, ear, nose and throat conditions
- Audiologist. This provider has training to treat hearing problems and hearing loss.
- Ophthalmologist. This doctor treats eye and vision problems.
- Otolaryngologist (also called an ear, nose and throat specialist or ENT). This doctor treats problems of the ears, nose and throat, like hearing loss or feeding problems.
Providers who treat heart, blood vessel and lung conditions
- Cardiologist. This doctor treats conditions of the heart and blood vessels, like heart defects.
- Pulmonologist. This doctor treats lung conditions, like asthma.
Providers who treat hormone, gland and urinary tract conditions
- An endocrinologist. This doctor treats gland or hormone problems, like diabetes or thyroid conditions.
- A urologist. This doctor treats problems of the urinary tract (kidneys, bladder, ureters and urethra).
Providers who treat problems with the brain, nerves, spine, bones and joints
- Neurologist. This doctor treats brain, spine and nerve problems.
- Orthopedist. This doctor treats bone and joint problems.
- Physiatrist. This doctor treats health conditions that affect the brain, nerves, bones and muscles. A physiatrist also has special training in treating patients with disabilities.
Providers who treat developmental conditions
- Developmental pediatrician. This doctor has training in child development and taking care of children with special needs. If your baby has developmental delays, she may need to see a developmental pediatrician. Developmental delays are when your child doesn’t reach developmental milestones when expected. Milestones are skills or activities that most children can do at a certain age. Milestones include sitting, walking, talking, having social skills and having thinking skills.
- Occupational therapist. This provider is trained to help people learn to do everyday activities. For children, this may be things like brushing teeth, getting dressed, putting on shoes or learning to use a pencil. If your baby has feeding problems, she may need treatment from an occupational therapist.
- Physical therapist. This provider creates exercise programs to help build strength and help with movement. For example, if your child has clubfoot, physical therapy can help her learn how to walk.
- Speech therapist. This provider helps people with speech and language problems. A speech therapist also may help your baby if she has feeding problems.
Providers who help diagnose and treat birth defects caused by infections
- Infectious disease specialist. This doctor diagnoses and treats infections that may cause birth defects, like Zika, toxoplasmosis, rubella and CMV.
- Clinical geneticist. This doctor tries to find out the causes of birth defects and other genetic conditions. For example, if your baby has microcephaly, a clinical geneticist may check to see if it’s caused by something other than Zika infection.
Providers who help support families
- Mental health professional. This provider helps people with emotional or mental health problems, like depression. A mental health professional can help people cope with the stress of caring for a baby with a birth defect. Mental health providers include social workers, therapists, counselors, psychologists, psychiatrists and psychiatric nurse practitioners.
- Social worker. A social worker help people solve problems and make their lives better. Most hospitals have social workers who can help connect you with the resources you need to care for your baby.
Last reviewed: June, 2019