Cystic Fibrosis (CF)
Pregnancy can be a very worrisome time for some couples. It can be difficult for any new mom or dad not to be concerned about baby's health and well-being, especially in the first trimester. You may be particularly worried about the chances of passing along a genetic disease or chromosomal abnormality to your child, like cystic fibrosis. Cystic fibrosis (CF) is a genetic disorder that can cause severe lung problems and nutritional deficiencies. Though rare, cystic fibrosis does run in families and can be passed on to your newborn.
What is Cystic Fibrosis?
Cystic fibrosis is a genetic disorder that causes serious physical complications in its sufferers. The disorder affects your body's mucus production, causing mucus in your chest and intestinal tract to become extremely thick and sticky. As a result, breathing and digestion are difficult. The disorder also leaves sufferers at increased risk for respiratory infection, nutritional deficiency, and lung failure.
Cystic fibrosis disease affects more than 30,000 men and women in the United States, and 1 in 3,500 newborns are born with the disorder every year. Though there are treatments to help reduce symptoms of the disease, most cystic fibrosis sufferers will die by the time they reach their mid-30s.
Causes of Cystic Fibrosis?
Cystic fibrosis is a hereditary birth defect caused by a defective gene that is passed from parent to child. It is thought that more than 10 million Americans are actually carriers of the cystic fibrosis gene. This means that they have the genetic defect that causes the disease, but do not suffer from any symptoms themselves. If both you and your partner are carriers of the cystic fibrosis gene, there is a 25% chance that your child will have cystic fibrosis and a 50% chance that you child will become a gene carrier.
What are the Symptoms of Cystic Fibrosis?
Cystic fibrosis symptoms vary, depending upon the severity of the disease and the age of the sufferers. Common symptoms of cystic fibrosis in infants include:
- intestinal blockage
- failure to pass meconium, the greenish-black stools that infants pass in the first days after birth
- greasy stools
- respiratory infections
Symptoms of cystic fibrosis in children and adults include:
- salty tasting skin (because cystic fibrosis sufferers have two to five times more sodium in their sweat)
- delayed growth
- wheezing and coughing
- chest and sinus infections
- poor weight gain
Complications of Cystic Fibrosis
Unfortunately, cystic fibrosis tends to result in a number of health complications, such as:
- chronic respiratory infection
- bleeding from the lungs
- collapsed lung
- nutritional deficiency
- type 1 diabetes
- male infertility
Most cystic fibrosis sufferers die of complications from the disease by the age of 35.
Is Your Baby At Risk?
It can be difficult to know if your baby is at risk for developing cystic fibrosis. This is because the majority of cystic fibrosis gene carriers are unaware that they even have the genetic defect. Some people are at increased risk of getting the disease or passing the disease on to their children. Risk factors include:
- having a family history of cystic fibrosis
- being of Northern European descent
Cystic Fibrosis Screening
If you are concerned that you or your partner may be a cystic fibrosis carrier, it is important to have a cystic fibrosis screening test done. This is a simple blood or saliva test that can be used to determine if you or your partner have the genetic defect. This screening test is now offered to all expectant couples, no matter what their family or genetic background. If both you and your partner test positive for the cystic fibrosis gene, it is possible to test your baby in utero for the defect.
Cystic Fibrosis Testing
There are a number of ways to test your baby for cystic fibrosis:
- Chorionic Villi Sampling: Performed at 11 weeks, chorionic villi sampling removes a piece of your placenta and tests it for the cystic fibrosis gene.
- Amniocentesis: Performed at 16 weeks, amniocentesis involves taking a sample of your amniotic fluid, which is then tested for the cystic fibrosis gene.
- Sweat Test: The sweat test is performed after your baby is born, generally around two months of age. A sweat-producing chemical is painted on your babyï¿½s arm or leg. Electrodes are then placed over the chemical. These electrodes deliver a painless current that helps to produce sweat. This sweat is then tested for sodium levels.
Cystic Fibrosis Treatment
Unfortunately, if your baby tests positive for cystic fibrosis there are no treatments that can be performed in utero. Treatment can begin as soon as your baby is born. Common treatments include:
- Mucus Thinners: Mucus thinners help to break up thick mucus, making breathing easier.
- Antibiotics: Aerosol antibiotics enter directly into the airway to help fight lung infections.
- Bronchial Airway Drainage: Manual drainage of the airways must be performed twice a day for 30 minutes. Vigorous clapping on the chest and back helps to loosen mucous caught in the lungs. Vibrating vests are sometimes used to help break up mucus.
- Pancreatic Enzymes: Pancreatic enzymes help sufferers to absorb food better.