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Birth defects

  • Birth defects are health conditions present at birth.
  • They can cause problems in how the body works.
  • About 120,000 babies born each year have a birth defect.
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Congenital heart defects and CCHD

Congenital means present at birth. Congenital heart defects are heart conditions that a baby’s born with. These conditions can affect the heart’s shape or how it works, or both.

Congenital heart defects are the most common types of birth defects. Birth defects are health conditions that a baby’s born with that change the shape or function of one or more parts of the body. They can cause problems in overall health, how the body develops, or in how the body works.

Critical congenital heart disease (also called CCHD) is group of the seven most severe congenital heart defects. They may affect the shape of a baby’s heart, the way it works, or both. Babies with CCHD need treatment within the first few hours, days or months of life. Without treatment, CCHD can be deadly.

Nearly 1 in 100 babies (about 1 percent or 40,000 babies) is born with a heart defect in the United States each year. About 4,800 babies each year are born with CCHD. Many heart defects don’t need treatment or can be fixed easily. But some, like CCHD, can cause serious health problems or death.

If your baby’s health care provider thinks your baby has a congenital heart defect or CCHD, she can refer you to a pediatric cardiologist. This is a doctor who treats babies and children with heart problems.

How can heart defects affect your baby?

Heart defects can affect different parts of your baby’s heart, including:

  • Septum. This is the wall that splits the right and left sides of the heart.
  • Heart valves. These open and close to control blood flow to and from the heart.
  • Arteries and veins. Arteries are blood vessels that carry blood away from the heart to the body. Veins are blood vessels that carry blood from the body to the heart.

Heart defects can affect your baby’s blood flow, causing blood to:

  • Slow down
  • Go in the wrong direction or to the wrong place
  • Be blocked completely

What heart defects are part of CCHD?

These heart defects are part of CCHD:

1. Hypoplastic left heart syndrome (also called HLHS). In this condition, the left side of the heart doesn’t form fully, and the heart can’t properly pump blood. A baby with HLHS needs open heart surgery or a heart transplant. Open heart surgery is when the chest is cut open and surgery is done on a part of the heart. A heart transplant is surgery in which a damaged heart is removed and replaced with a healthy heart from another person. Some babies also need medicines to make their heart muscle stronger, to lower their blood pressure or to help the body get rid of extra fluids.

2. Pulmonary atresia (also called PA). In this condition, a baby’s heart’s pulmonary valve doesn’t form properly. This means that enough blood can’t flow from the heart to the lungs. Treatment may include medicines to help blood flow, open heart surgery or heart transplant.

3. Tetralogy of Fallot (also called TOF). Babies with this condition have heart defects that prevent enough blood from reaching the lungs. This means the blood that’s pumped to the body may not have enough oxygen. Babies with TOF need heart surgery and lifelong medical care.

4. Total anomalous pulmonary venous return (also called TAPV or TAPVR). In this condition, the veins that take blood from the lungs to the heart don’t connect to the heart the right way. It causes blood to circle back and forth between the heart and lungs. But blood never flows out to the rest of the body like it should. A baby with this condition needs surgery as soon as possible. Without treatment, the heart can get bigger, leading to heart failure. Heart failure is when the heart can’t pump enough blood.

5. Transposition of the great arteries (also called TGA). Babies with this condition have the positions of two important arteries switched. This means the blood that’s pumped to the body may not have enough oxygen. Babies with TGA need heart surgery and lifelong medical care.

6. Tricuspid atresia (also called TA). In this condition, the heart’s tricuspid valve is missing or doesn’t develop normally. If this valve doesn’t open, enough blood can’t flow into the lungs to pick up the oxygen it needs. Babies with TA need surgery.

7. Truncus arteriosis. Babies with this condition have only one artery that leaves the heart instead of two. This causes blood with oxygen to mix with blood that doesn’t have oxygen. Babies with this condition need surgery because over time, they can develop a life-threatening problem called pulmonary hypertension. This is high blood pressure in the arteries to the lungs.

What are other common congenital heart defects and how are they treated?

Other common congenital heart defects include:

  • Patent ductus arteriosus (also called PDA). This condition happens in the connection (called the ductus arteriosus) between two major blood vessels near the heart. The ductus is open when a baby is in the womb. If the ductus doesn’t close properly after birth, a baby can have breathing problems or heart failure. Small PDAs often close on their own. But some babies need medicine or heart surgery.
  • Septal defects, like atrial septal defect (also called ASD) and ventricular septal defect (also called VSD). These defects leave a hole in the septum. The septum is the wall inside the heart that separates the right and left atria and right and left ventricles. The atria are parts of the heart that receive blood coming from other parts of the body. Ventricles parts of the heart that pump blood out to other parts of the body. A hole in the septum can cause blood to go in the wrong direction or to the wrong place. About half of all ASDs close on their own. Heart surgery and procedures with catheters (thin, flexible tubes) can fix medium and large ASDs. Heart surgery may be needed to fix VSDs. 
  • Coarctation of the aorta (COA). In this condition, part of the aorta is narrow. The aorta is the large artery that carries blood from the heart to rest of the body. Having COA means the heart has to work harder to get blood through the aorta. COA is treated with balloon angioplasty. In this procedure, a provider uses a catheter with a tiny balloon to push open the aortic valve. Or he may treat it with a stent, which is a small mesh tube used to treat narrow or weak arteries. Babies with more severe COA need heart surgery.
  • Heart valve abnormalities. These happen when heart valves don’t close the right way or valves are narrow or blocked, so blood can’t flow smoothly. Mild heart valve abnormalities don’t need treatment. Procedures with catheters can treat many severe heart valve defects. Some may need surgery.

What causes congenital heart defects?

Heart defects develop in the early weeks of pregnancy when the heart is forming, often before you know you’re pregnant. We’re not sure what causes most congenital heart defects, but these things may play a role:

Medical conditions in mom

  • Diabetes, a medical condition in which your body has too much sugar (called glucose) in your blood
  • Lupus, an autoimmune disorder. Autoimmune disorders are health conditions that happen when antibodies (cells in the body that fight off infections) attack healthy tissue just about anywhere in the body by mistake. Lupus may cause problems with a person’s heartbeat. 
  • Rubella (German measles) in the first 3 months of pregnancy
  • Being obese (very overweight). An obese person has a body mass index (also called BMI) over 30.
  • Phenylketonuria (PKU) and not following the PKU meal plan

Changes in genes or chromosomes
Some babies have heart defects because of changes in their chromosomes or genes. Chromosomes are the structures that hold genes. 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. Researchers have found about 40 gene changes (also called mutations) that cause heart defects. About 30 in 100 babies (30 percent) with a heart defect also have a chromosomal condition or a genetic condition.

If you, your partner or one of your other children has a congenital heart defect, your baby may be more likely to have one, too. So you may want to meet with a genetic counselor. This is a person who is trained to help you understand how genes, birth defects and other medical conditions run in families, and how they can affect your health and your baby's health.

Children with these chromosomal and genetic conditions are likely to have congenital heart defects:

  • Down syndrome. This condition includes a combination of birth defects, such as intellectual disabilities, heart defects, certain facial features, and hearing and vision problems.
  • Turner syndrome. This condition affects a girl’s development. Girls who have it are short, and their ovaries don’t work properly. Ovaries are where eggs are stored in a female’s body.
  • Noonan syndrome. This condition prevents normal development in different body parts. It may affect facial features and can lead to short height and heart problems.
  • Velocardiofacial syndrome (also called VCF). This condition can cause a combination of problems, like trouble fighting infections, kidney problems and cleft palate. Cleft palate is a birth defect in which a baby’s palate (roof of the mouth) doesn’t form completely and has an opening in it.
  • Alagille syndrome. In this condition, a baby has less than the normal number of bile ducts (tubes that carry bile) inside the liver. It can lead to liver damage and problems with the kidneys, eyes and other body parts.

Conditions in your everyday life (lifestyle and environment)
Some things in your life and environment (where and how you live) may increase your chances of having a baby with congenital heart defects. These include:

  • Smoking before or during pregnancy
  • Drinking alcohol during pregnancy
  • Taking certain medicines. Tell your provider about any medicine you take. This includes prescription medicine, over-the counter medicine, herbal products and supplements. Some medicines used to treat conditions, like acne, seizures or bipolar disorder (a kind of mental illness), may increase risk your baby’s risk of congenital heart defects. You may need to stop taking a medicine or switch to another medicine during pregnancy. Don’t stop taking any prescription medicine without your provider’s OK.

How do you know if your baby has a congenital heart defect?

Severe congenital heart defects usually are diagnosed during pregnancy or soon after birth. Less severe heart defects often aren’t diagnosed until children are older.

During pregnancy
Your provider may use a test called fetal echo to check your baby’s heart. This test makes a picture of your baby’s heart while still in the uterus (womb). You can have this test as early as 18 to 22 weeks of pregnancy.

You may need a fetal echo if:

  • Your provider finds a possible problem, like your baby has an abnormal heart rhythm, during an ultrasound.
  • You have a medical condition, like diabetes or lupus, that may play a role in congenital heart defects. 
  • You have a family history of congenital heart defects or heart disease.
  • Your baby has a chromosomal condition, like Down syndrome, Turner syndrome or VCF.

After birth
Your baby may be tested for CCHD as part of newborn screening before he leaves the hospital after birth. Newborn screening checks for serious but rare conditions at birth. It includes blood, hearing and heart screening. All states require newborn screening, but they don’t all require screening for CCHD. Ask your provider if your state tests for CCHD.

Babies are screened for CCHD with a test called pulse oximetry (also called pulse ox). This test checks the amount of oxygen in your baby’s blood using a sensor attached to his finger or foot.

After birth, signs and symptoms of heart defects can include:

  • Fast breathing
  • Gray or blue skin coloring
  • Fatigue (feeling tired all of the time)
  • Slow weight gain
  • Swollen belly, legs or puffiness around the eyes
  • Trouble breathing while feeding
  • Sweating, especially while feeding
  • Abnormal heart murmur (extra or abnormal sounds heard during a heartbeat)

If your baby shows any of these signs or symptoms, call her health care provider right away. Your baby’s provider may use these tests to check for heart defects:

  • Physical exam. Your baby’s provider listens to your baby’s heart and lungs with a stethoscope and looks for other signs of a heart defect.
  • Echocardiogram (also called an echo or a cardiac ultrasound). This is an ultrasound of the heart. It uses sound waves to create a moving picture of the heart. Your baby’s provider can see the heart beating and check the heart’s valves and other parts.
  • Electrocardiogram (also called EKG or ECG). This test records how fast the heart is beating and if its rhythm is steady or not. It can show if one of the heart’s chambers is enlarged.
  • Chest X-ray. This test makes pictures of your baby’s chest and organs, like the heart and lungs. It can show if the heart is enlarged. It also can show if the lungs have extra blood flow or extra fluid. Extra fluid in the lungs is a sign of heart failure.
  • Pulse oximetry. 
  • Cardiac catheterization. In this procedure, your baby’s provider moves a catheter into a vein in your baby’s arm, groin (upper thigh) or neck. Once the tube moves into the heart, a special dye in the catheter flows into a blood vessel or one of the heart’s chambers. On an X-ray, the dye shows blood flowing through the heart and blood vessels. Your baby’s provider can see if blood is mixing between the two sides of the heart.

Last reviewed November 2013

See also: Birth defects


Call your provider now if your baby

  • Has a temperature above 100.4º F
  • Has trouble breathing or is hard to waken
  • Has blood in her vomit or stool
  • Has yellowish skin or eyes
  • Is having a seizure

Most common questions

Can dad's exposure to chemicals harm his future kids?

Dad's exposure to harmful chemicals and substances before conception or during his partner's pregnancy can affect his children. Harmful exposures can include drugs (prescription, over-the-counter and illegal drugs), alcohol, cigarettes, cigarette smoke, chemotherapy and radiation. They also include exposure to lead, mercury and pesticides.

Unlike mom's exposures, dad's exposures do not appear to cause birth defects. They can, however, damage a man's sperm quality, causing fertility problems and miscarriage. Some exposures may cause genetic changes in sperm that may increase the risk of childhood cancer. Cancer treatments, like chemotherapy and radiation, can seriously alter sperm, at least for a few months post treatment. Some men choose to bank their sperm to preserve its integrity before they receive treatment. If you have a question about a specific exposure, contact the Organization of Teratology Information Specialists at www.otispregnancy.org.

Can Rh factor affect my baby?

The Rh factor may be a problem if mom is Rh-negative but dad is Rh-positive. If dad is Rh-negative, there is no risk.

If your baby gets her Rh-positive factor from dad, your body may believe that your baby's red blood cells are foreign elements attacking you. Your body may make antibodies to fight them. This is called sensitization.

If you're Rh-negative, you can get shots of Rh immune globulin (RhIg) to stop your body from attacking your baby. It's best to get these shots at 28 weeks of pregnancy and again within 72 hours of giving birth if a blood test shows that your baby is Rh-positive. You won't need anymore shots after giving birth if your baby is Rh-negative. You should also get a shot after certain pregnancy exams like an amniocentesis, a chorionic villus sampling or an external cephalic version (when your provider tries to turn a breech-position baby head down before labor). You'll also want to get the shot if you have a miscarriage, an ectopic pregnancy or suffer abdominal trauma.

Does cleft lip or cleft palate cause dental problems?

A cleft lip or cleft palate that extends into the upper gums (where top teeth develop) can cause your baby to have certain dental problems, including:

  • Missing teeth
  • Too many teeth
  • Oddly shaped teeth
  • Teeth that are out of position around the cleft

Every baby with a cleft lip or palate should get regular dental checkups by a dentist with experience taking care of children with oral clefts. Dental problems caused by cleft lip or palate usually can be fixed. If needed, your baby can get ongoing care by a team of experts, including:

  • A dentist
  • An orthodontist to move teeth using braces
  • An oral surgeon to reposition parts of the upper jaw, if needed, and to fix the cleft

See also: Cleft lip and cleft palate

 

Does cleft lip or cleft palate cause ear problems?

Cleft lip does not cause ear problems.

Babies with cleft palate, however, are more likely than other babies to have ear infections and, in some cases, hearing loss. This is because cleft palate can cause fluid to build up in your baby’s middle ear. The fluid can become infected and cause fever and earache. If fluid keeps building up with or without infection, it can cause mild to moderate hearing loss.

Without treatment , hearing loss can affect your baby’s language development and may become permanent.

With the right care, this kind of hearing loss is usually temporary. Your baby’s provider may recommend:

  • Having your baby’s ears checked regularly for fluid buildup
  • Medicines for treating fluid buildup and ear infections
  • Ear tubes if your baby has fluid in his ears over and over again. Ear tubes are tiny tubes that are inserted into the eardrum to drain the fluid and help prevent infections.

See also: Cleft lip and cleft palate

Does cleft lip or cleft palate cause problems with breastfeeding?

Babies with only a cleft lip usually don’t have trouble breastfeeding. Most of the time, they can breastfeed just fine. But they may need some extra time to get started.

Babies with cleft lip and palate or with isolated cleft palate can have:

  • Trouble sucking strong enough to draw milk through a nipple
  • Problems with gagging or choking
  • Problems with milk coming through the nose while feeding

Most babies with cleft palate can’t feed from the breast. If your baby has cleft palate, he can still get the health benefits of breastfeeding if you feed him breast milk from a bottle. Your provider can show you how to express (pump) milk from your breasts and store breast milk.

Your baby’s provider can help you start good breastfeeding habits right after your baby is born. She may recommend:

  • Special nipples and bottles that can make feeding breast milk from a bottle easier
  • An obturator. This is a small plastic plate that fits into the roof of your baby’s mouth and covers the cleft opening during feeding.

See also: Cleft lip and cleft palate, Breastfeeding

Does cleft lip or cleft palate cause speech problems?

Children with cleft lip generally have normal speech. Children with cleft lip and palate or isolated cleft palate may:

  • Develop speech more slowly
  • Have a nasal sound when speaking
  • Have trouble making certain sounds

Most children can develop normal speech after having cleft palate repair. However, some children may need speech therapy to help develop normal speech.

See also: Cleft lip and cleft palate

What are choroid plexus cysts?

The choroid plexus is the area of the brain that produces the fluid that surrounds the brain and spinal cord. This is not an area of the brain that involves learning or thinking. Occasionally, one or more cysts can form in the choroid plexus. These cysts are made of blood vessels and tissue. They do not cause intellectual disabilities or learning problems. Using ultrasound, a health care provider can see these cysts in about 1 in 120 pregnancies at 15 to 20 weeks gestation. Most disappear during pregnancy or within several months after birth and are no risk to the baby. They aren't a problem by themselves. But if screening tests show other signs of risk, they may indicate a possible genetic defect. In this case, testing with higher-level ultrasound and/or amniocentesis may be recommended to confirm or rule out serious problems.

What if I didn't take folic acid before pregnancy?

If you didn’t take folic acid before getting pregnant, it doesn't necessarily mean that your baby will be born with birth defects. If women of childbearing age take 400 micrograms of folic acid every day before and during early pregnancy, it may help reduce their baby’s risk for birth defects of the brain and spin called neural tube defects (NTDs). But it only works if you take it before getting pregnant and during the first few weeks of pregnancy, often before you may even know you’re pregnant.

Because nearly half of all pregnancies in the United States are unplanned, it's important that all women of childbearing age (even if they're not trying to get pregnant) get at least 400 micrograms of folic acid every day. Take a multivitamin with folic acid before pregnancy. During pregnancy, switch to a prenatal vitamin, which should have 600 micrograms of folic acid.

Last reviewed November 2012

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