Neonatal cystic fibrosis screening test

Cystic fibrosis screening - neonatal; Immunoreactive trypsinogen; IRT test; CF - screening

Neonatal cystic fibrosis screening is a blood test that screens newborns for cystic fibrosis (CF).

Infant blood sample

To draw blood, a needle is inserted beneath the skin. Regardless of the amount of pain, infants will usually cry.

Parents can pass all kinds of different traits to their children, from blue eyes to blonde hair. Sometimes, parents can also pass the genes for certain diseases to their kids. Cystic fibrosis is one very serious inherited disease that makes it hard for children to breathe and digest food. Let's talk about cystic fibrosis. Genes are the coded instructions that tell our bodies how to operate. Usually, the code is correct and everything runs smoothly. But sometimes, the code is incorrect because of a defective gene or genes. In the case of cystic fibrosis, a faulty gene causes the body to produce an abnormally thick, sticky fluid called mucus. This mucus clogs the lungs, making it hard to breathe. It also gets stuck in the pancreas, making it harder for the body to break down and digest food. Millions of Americans carry the cystic fibrosis, or CF gene. Fortunately, most of them don't have cystic fibrosis. That's because you need to inherit one faulty gene from each parent to actually get the disease. Kids who are born with cystic fibrosis start showing signs very early. Newborns don't grow or gain weight as quickly as they should, and they don't make bowel movements because their bodies aren't digesting food properly. As these children get older, they may have symptoms like coughing and fatigue from the mucus in their lungs, and nausea and stomach pain from the mucus in their pancreas. They'll also get pneumonia and other lung infections more often than normal. So, you may now be asking, how do you know if your child has cystic fibrosis? Doctors diagnose cystic fibrosis using a blood test that looks for the CF gene. There is also a sweat test, which looks for saltier-than-normal sweat, another symptom of cystic fibrosis. Doctors may use other tests, such as a chest x-ray or upper GI series, to check for lung and bowel problems caused by CF. It's a good idea to get treated at a center that specializes in cystic fibrosis because they're up on all the latest therapies. For lung problems, treatments include inhaled medicines to open the airways, medicine to thin mucus and make it easier to cough up, and antibiotics to prevent lung infections. Some people may eventually need a lung transplant. For bowel problems, you'll need to eat a special diet that's higher in protein and calories to make up for the nutrients you're losing. You may also take vitamin supplements. The outlook for people with cystic fibrosis is better today than ever before. Thanks to new treatments, people with this disease can live well into adulthood. They can go to school, play sports, and get a job like everyone else. But because the symptoms of cystic fibrosis are so serious, it's very important to stay on top of treatment, and to call the doctor right away if symptoms get worse. Anyone with a family history of the disease may want to get screened for the CF gene before they decide to have children.

How the Test is Performed

How the Test will Feel

Why the Test is Performed

Normal Results

What Abnormal Results Mean

Risks