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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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Cystic fibrosis and your baby

Cystic fibrosis (CF) is a condition that affects breathing and digestion. It’s caused by very thick mucus that builds up in the body.

Mucus is a fluid that normally coats and protects parts of the body. It’s usually slippery and slightly thinker than water. But in CF, the mucus is thicker and sticky. It builds up in the lungs and digestive system and can cause problems with how you breathe and digest food.

CF affects about 30,000 children and adults in the United States. It is one of the most common genetic conditions in this country. About 1 in 3,500 babies is born with CF.

What causes CF?

CF is inherited. This means it’s passed from parent to child through genes. A gene is a part of your body’s cells that stores instructions for the way your body grows and works. Genes come in pairs—you get one of each pair from each parent.

Sometimes the instructions in genes change. This is called a gene change or a mutation. Parents can pass gene changes to their children. Sometimes a gene change can cause a gene to not work correctly. Sometimes it can cause birth defects or other health conditions. A birth defect is a health condition that is present in a baby at birth.

Your baby has to inherit a gene change for CF from both parents to have CF. If she inherits the gene change from just one parent, she has the gene change for CF, but she doesn’t have the condition. When this happens, your baby is called a CF carrier. A CF carrier has the gene but doesn’t have the condition.

What problems does CF cause?

Babies with CF have very thick and sticky mucus that builds up in the body. When this mucus builds up in the lungs, it blocks airways and causes breathing problems and infections. Airways are tubes that carry air in and out of the lungs. As a baby with CF gets older, lung infections can get worse. This can lead to serious, and sometimes deadly, lung damage.

When mucus builds up in the digestive system, it blocks tubes in the pancreas, an organ in the belly. This can make it hard for the body’s digestives system to break down food. When this happens, your baby may not get the nutrients she needs to grow and stay healthy.

Some cases of CF are more serious than others. Babies with CF are often sick with infections and need a lot of special medical care.

How do you know if your baby has CF?

All babies have newborn screening tests for CF. Newborn screening checks for serious but rare and mostly treatable conditions at birth. It includes blood, hearing and heart screening. With newborn screening, CF can be found and treated early.

Before your baby leaves the hospital, his health care provider takes a few drops of blood from his heel to test for CF and other conditions. The blood is collected and dried on a special paper and sent to a lab for testing. The lab then sends the results back to your baby’s provider.

If newborn screening results aren’t normal, it simply means your baby needs more testing. Your baby’s provider can recommend another kind of test, called a diagnostic test. This test can check to see if your baby has CF or if there is some other cause for abnormal test results.

Your provider may recommend that your baby have a sweat test to see if he has CF. This is a simple, painless test that checks the amount of salt in your baby’s sweat. Babies with CF have more salt in their sweat than healthy babies. Your baby’s provider also may recommend a genetic test for your baby.

If your baby does have CF, he may have these signs and symptoms that can be mild or serious:

  • Coughing or wheezing
  • Having lots of mucus in the lungs
  • Many lung infections, like pneumonia and bronchitis
  • Shortness of breath
  • Salty skin
  • Slow growth, even with a big appetite
  • Meconium ileus, when meconium gets stuck in a newborn’s intestine. Meconium is a baby's first bowel movement. It can be green, brown or black in color.
  • Bowel movements that are frequent, loose, large or look greasy
  • Stomach pain or bloating


If your baby has CF, how are lung and breathing problems treated?

Many lung infections in babies with CF are caused by bacteria that don’t usually cause problems for healthy babies. If your baby has CF, medicines like antibiotics often cannot get rid of all the bacteria in his lungs. These infections can lead to lung damage.

Your child’s treatment depends on the kind of symptoms he has and how severe they are. Certain medicines can help children with CF breathe better and prevent infections. Some come as a mist that your child breathes into the lungs. Medicines used for CF include:

  • Mucus-thinners. Medicines like PulmozymeÒ (Dnase) help thin mucus, making it easier to cough out.
  • Bronchodilators. These medicines help open the airways to clear mucus from the lungs. Examples are AlbuterolÒ, ProventilÒ and VentolinÒ.
  • Antibiotics. These are medicines that kill infections caused by bacteria. TOBIÒ (tobramycin) is a common inhaled antibiotic, and azithromycin is a common antibiotic taken by mouth.
  • Ibuprofen. This medicine can help reduce lung redness and swelling that make breathing difficult.
  • Hypertonic saline. Inhaling this salt-water mist helps draw more water into the airways. This helps thin the mucus.

Your child’s provider may recommend that she gets lots of physical activity or that you use other therapies to vibrate (shake) the chest to help loosen mucus in her lungs. This can make it easier for your child to cough mucus up and out of the lungs.

If your child’s CF becomes life-threatening, a lung transplant may be an option. This is a major operation that is becoming more successful in treating CF.

If your baby has CF, how are growth and digestion problems treated?

Some children with CF gain weight and grow normally. But many grow more slowly than other children.

Most children with CF need to take special medicines that help their bodies get nutrients from food. This helps with weight gain and digestion.

To help them grow, children with CF need healthy, high-calorie meals. They need extra vitamins, especially vitamins A, D, E and K. A dietitian with experience in treating children with CF can help you create your child’s meal plan for a healthy weight gain. A dietician is a person with special training in helping people eat healthy.

Some teens or young adults with CF may get CF-related diabetes. This is usually treated by getting shots of insulin at meal times. It’s important to keep diabetes under control so that it doesn’t cause more lung problems.

More information

Cystic Fibrosis Foundation

Last reviewed January 2013

See also: Genetic counseling

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

Frequently Asked 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

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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