Cystic Fibrosis
What is Cystic Fibrosis (CF)?
Cystic fibrosis is a progressive genetic disorder that causes breathing and digestive issues. Normally our cells produce mucus, sweat, and digestive fluids that are smooth and thin. However, a person affected with CF produces sticky and thick secretions caused by an inherited defective gene. Oftentimes these secretions clog passages in the lungs and the pancreas. CF currently affects approximately 30,000 people in the US and about 1,000 new causes are diagnosed each year. Treatment may include specialized medications, therapy, and possible lung transplant.
What are Symptoms of Cystic Fibrosis (CF)?
People affected by CF may experience different symptoms depending on the severity of their disorder. Some may not have any symptoms of CF until they are a teenager or even an adult. These cases are usually considered milder than those that display symptoms early in life.
Respiratory signs and symptoms:
- Wheezing
- Exercise intolerance
- Repeated lung infections
- Inflamed nasal passages or a stuffy nose
- Recurrent sinusitis
Digestive signs and symptoms:
- Poor weight gain and growth
- Foul-smelling, greasy stools
- Intestinal blockage, particularly in newborns
- Chronic or severe constipation, which may include frequent straining while trying to pass stool, eventually causing part of the rectum to protrude outside the anus (rectal prolapse). Information Courtesy of Mayo Clinic
What Does a Presumptive Positive newborn screening result for Cystic Fibrosis mean?
Newborn screening will be performed on your baby prior to leaving the hospital, or within 5 days after a home birth. Newborn screening can identify a + CF result. If this screen shows a pre-positive result, further testing will be arranged for confirmation. Additional testing includes a sweat test, genetic or carrier test, and a clinical evaluation. It is important that the additional testing is performed in a timely manner in order to ensure that the baby receives proper treatment. Early treatment of these conditions can make all the difference in the long-term health outcomes for each baby.
Information for Families
Before every baby goes home from the nursery, he or she has a small amount of blood taken from his or her heel. This is called the heel stick. The blood is collected on the newborn screening card and referred to as the dried blood spot (DBS) sample. The DBS sample that is collected is used to screen for over 50 rare genetic conditions. If anything, concerning is found, the Newborn Screening Laboratory contacts the baby’s doctor.
Information for Providers
It is the responsibility of the physician or midwife, whoever oversees the birth, to educate the family about the importance of each of the three (3) screens, and ensure the family is referred to have the screens performed. In the case that the family wishes to refuse one, two, or all three of the screens, it is the responsibility of the physician or midwife to have the parents complete and sign a Religious Waiver and enter this as an exception within your MSR (upload the completed Religious Waiver within the exception when prompted). Midwives, doulas, and other birth attendants are required by the state of Indiana to ensure newborn screening occurs and is reported to IDOH GNBS for each infant delivered. This means every midwife must be set up to submit Monthly Summary Reports (MSRs) in INSTEP.
For more information about MSRs, contact the Genomics and Newborn Screening Program by calling us at 888-815-0006 or emailing us at ISDHNBS@isdh.in.gov.
If you need help with newborn screening, contact the Genomics and Newborn Screening Program by calling us at 888-815-0006 or emailing us at ISDHNBS@isdh.in.gov.
Additional Cystic Fibrosis Resources:
Page last revised on 02/02/2022 by DWard
