Cystic fibrosis newborn screening false positive rate
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In Ohio, all newborns are given a blood test called the Newborn Screening Test at birth, which tests for 35 different treatable conditions. Each state has its own Newborn Screening Exam, which checks for a particular set of conditions. Cystic fibrosis is one of the diseases that all states now test for. The Newborn Screening Test for Cystic Fibrosis in Ohio is divided into two sections. The first step is to determine how much immunoreactive trypsinogen is present in the body (IRT). The second test is performed if the IRT is high. The second test is a genetic test for the most common cystic fibrosis mutations (gene changes). If at least one mutation is discovered, the result is considered “screen positive,” and further testing is needed.
The newborn screening is simply a cystic fibrosis screening. Many that have an irregular newborn scan (screen positive) do not usually have cystic fibrosis. The majority of the time (roughly 90%), the result is a false positive, indicating that the screen was abnormal and the child does not have cystic fibrosis. Instead, the kid has cystic fibrosis and is a vector of the disease. Carriers may not have cystic fibrosis, but they are more likely to have a child with the disease if they have children of their own.
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The clinical symptoms of cystic fibrosis differ from person to person. Meconium ileus, an intestinal obstruction caused by thick secretions at birth, affects some affected babies, but most appear healthy at birth. Because of irregular secretion by the pancreas gland, which results in malabsorption of fat and other nutrients, most children experience poor growth and abnormal bowel movements during the first year of existence. Thick secretions in the lungs cause coughing, wheezing, and an increased risk of respiratory tract infections. Respiratory symptoms can appear as early as the first few weeks of life, but they can also take years to appear.
Measurement of immunoreactive trypsinogen (IRT) and evaluation of the most common genetic defects causing cystic fibrosis are two components of the newborn cystic fibrosis screening examination. The majority of babies who have presumptive positive newborn screening tests will either have cystic fibrosis or will be unaffected carriers of the CF gene. Quantitative pilocarpine iontopheresis (QPIT) sweat chloride testing is needed to confirm a CF diagnosis. Carrier babies would almost certainly have an irregular CF gene found during newborn screening but a regular sweat test. Infants with positive newborn screening tests (elevated IRT and one or two common CF mutations, or an ultra high IRT level) need immediate follow-up, and the clinician should refer the child to a facility with experience conducting QPIT testing as soon as possible after learning of the results. With newborn CF screening, false positive and false negative findings are likely. Regardless of the newborn screening findings, any child with a family history of cystic fibrosis or clinical symptoms of the disease, such as meconium ileus, should be referred to a CF specialist for further examination and QPIT monitoring.
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In Switzerland, an NBS program has been in place for more than 40 years, and a Guthrie test is now used to search for six congenital metabolic disorders. On the fourth day of life, a heel prick sample is taken from each neonate and dried on filter paper (= Guthrie card) for this reason. Since 2006, the NBS software has been centralized at the University Children’s Hospital in Zurich’s national NBS laboratory.
The Swiss Federal Office of Public Health (FOPH) authorized CF testing as the seventh disease to be included in the NBS program in November 2010, and a two-year pilot phase of the CF-NBS program began on January 1, 2011. (11). According to a retrospective report, the proposed two-step treatment (IRT and DNA screening) would have caught 98 percent of the children diagnosed with CF between 2006 and 2009. (12).
The CF-NBS program’s viability, effectiveness, and acceptance were expected to be assessed during the pilot process (13). We assess the first year of the pilot process in this report, focusing on the following aspects:
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The goal of newborn screening is to enhance treatment and disease outcomes for parents, but false-positive newborn screening results may be distressing. The aim of this study was to explain the experiences of families who obtain a false-positive newborn screening result in order to find ways to help families better understand the newborn screening communication process. Methods:In-depth, semistructured interviews and focus groups were used to gather data for this qualitative analysis. Parents whose children (ages 6–16 months) underwent follow-up testing after newborn screening and whose follow-up test results suggested that the newborn screening result was a false-positive were included in the study (N = 27). Our research discovered that parents who receive a false-positive newborn screening result go through five distinct stages. The majority of parents reported no long-term negative effects from the experience, but some did have some residual anxiety. Good provider contact was cited by participants as a key factor in stress reduction. According to some parents, the experience resulted in positive results. Conclusion: Enhancing the newborn screening process requires identifying best practices for communication between health care providers and parents. More research is required to find the best communication practices for minimizing possible harm while maximizing the benefits of newborn screening. 76–80 in Genet Med, vol. 14, no. 1, 2012.