Neonatal Screening for Cystic Fibrosis: A Meta Analysis Study

Abstract

Objective: The main goal of this literature review is to investigate and compare the current screening procedures for the diagnosis of cystic fibrosis in neonates. Cystic Fibrosis or CF is a lethal, genetic disease. The disease is neither too widespread nor too rare. There are more than 30,000 CF patients in the United States, and the number of CF carriers is still unidentified. CF affects more than one organ system in patient's body; due to this, there is no definitive treatment plan for the disease. The cure is dependent on the results of prenatal and postnatal diagnosis. The patients may exhibit all or few symptoms associated with the disease. Sometimes, symptoms are completely absent at the time of birth and become more prevalent with the age. Methods & Materials: We extensively studied the peer-reviewed scientific journals to understand the existing diagnostic and screening methods for cystic fibrosis. During our research, we kept the focus on newborn screening and evaluated the clinical data from previous studies. We retrieved tables and figures from electronic databases to indicate these results more effectively. We also analyzed the available information on sensitivity, specificity, positive predictive value and negative predictive value of these screening programs. Result & Conclusion: The data indicates that sensitivity of neonatal screening programs is less than 90% (or even below 80% in some cases) when only one test is performed. However, sensitivity increases as the multi-stage approach is adopted. Besides, the CF detection rate is also influenced by multiple factors including ethnicity and age of the patient, duration of the study, type of CFTR mutation, nutritional habits, etc. Many studies need to be carried out to determine optimal cutoff values for both IRT and the sweat test. Genomics and computational biology can be used not only in identifying the other important CFTR mutations, but also in evaluating their impact on the patient's body.

Clinical findings of patients with cystic fibrosis according to newborn screening results

“…In the meta-analysis in which 40 studies and eight reviews were evaluated, F508del was the most common mutation in patients with positive NBS and was present in more than half of the patients. 27 Sherman et al 28 found F508del as the most common mutation in their study comparing 86 patients with positive NBS and 45 patients without NBS, and their frequency was 24% and 44%, respectively. Lumertz et al 29 reported two patients with normal NBS and homozygous F508del mutation.…”

“…In the meta‐analysis in which 40 studies and eight reviews were evaluated, F508del was the most common mutation in patients with positive NBS and was present in more than half of the patients 27 . Sherman et al 28 .…”