Evaluating the Modified American Academy Pediatrics Screening Algorithm for Critical Congenital Heart Disease.

OBJECTIVE: In 2018, an expert panel recommended two key modifications to the most used algorithm for screening neonates for critical congenital heart disease (CCHD). Our aim was to evaluate the outcomes of the modified algorithm compared to those of the original algorithm in a real-world setting. STUDY DESIGN: We compared the performance characteristics of an original CCHD algorithm used to screen term neonates at a large hospital system between October 26, 2018 and the recommended modified algorithm used between October 15, 2020 and June 30, 2022. We calculated sensitivity, specificity, false positive rate, proportion of false positives with non-CCHD illness, and error rates of test administration and interpretation for each algorithm. RESULTS: Sensitivity was not significantly different betweenthe modified algorithm compared to the original algorithm (40.00% vs 12.50%, p-1.00), but specificity was lower (and hence false positive rate higher) in the modified algorithm (99.91% vs. 99.98%, p<0.001). Despite a higher false positive rate in the modified algorithm, the proportion of false positives with significant non-CCHD illness was similar (36.47% vs. 28.57%, p=1.00), a finding that translated to an increase in number of cases of significant non-CCHD illness detected (11 cases out of 32,178 screens vs. 2 cases out of 32,984 screens). Error rates of test administration and interpretation were similar between the two algorithms. CONCLUSION: In this limited study, the modified algorithm for CCHD screening using pulse oximetry had a higher false positive rate than that of the original AAP algorithm.However, this higher rate led to an increased overall number of cases detected of significant non-CCHD illness.

A Modified Algorithm for Critical Congenital Heart Disease Screening Using Pulse Oximetry.

: media-1vid110.1542/5727212367001PEDS-VA_2017-4065Video Abstract OBJECTIVES: Determine the performance of the American Academy of Pediatrics (AAP) critical congenital heart disease (CCHD) newborn screening algorithm and the impact of an alternative algorithm. METHODS: Screening was performed on term infants without a known CCHD diagnosis at or near 24 hours of age at a tertiary birth hospital by using the AAP algorithm from 2013 to 2016. Retrospective review from the birth hospital and the area's sole pediatric cardiac center identified true- and false-positives and true- and false-negatives. A simulation study modeled the results of a modified screening algorithm with a single repeat pulse oximetry test instead of 2. RESULTS: Screening results were collected on 77 148 newborns . By using the current AAP algorithm, 77 114 (99.96%) infants passed screening, 18 infants failed for an initial saturation of <90%, and 16 failed after not attaining a passing pulse oximetry level after 3 tests. There was 1 true-positive (total anomalous pulmonary venous return), 33 false-positives, and 6 false-negatives, yielding an overall specificity of 99.96%, a sensitivity of 14.3%, and a false-positive rate of 0.043%. Among false-positives, 10 (31.3%) had significant non-CCHD disease. Simulating the modified algorithm, sensitivity remained at 14.3%, and the false-positive rate increased to 0.054%. CONCLUSIONS: Although CCHD screening in a tertiary care birth hospital may not detect many new cases of CCHD, it can detect other important diseases in newborns. Modifying the screening algorithm to 1 repeat pulse oximetry test instead of 2 may detect additional infants with significant disease without a substantial increase in the false-positive rate.

Clinic-based infant screening for duchenne muscular dystrophy: a feasibility study.

Purpose. The purpose of this study was to assess the desirability of Duchenne muscular dystrophy (DMD) screening, the effectiveness of the consent process, and the feasibility of conducting DMD screening in a pediatric office. Methods. Infant males who attended a 12-month routine well-child visit at a participating pediatric clinic were screened for DMD. Parents and providers completed post-screening questionnaires to assess their experiences with and attitudes toward screening. Results. A total of 264 male infants were screened for DMD. Approximately 78% of parents indicated support of voluntary DMD screening and 91% of providers were in favor of screening for DMD. About 75% of parents correctly answered three of five questions testing their knowledge of DMD screening. Conclusion. DMD screening is feasible in a pediatric office when conducted as part of a research study. Infant screening for DMD eventually could be offered in pediatric health care provider offices as an optional public health service outside of newborn screening.

Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.

Biotinidase deficiency is a defect in the recycling of the vitamin biotin. Biotin supplementation can markedly improve the neurological and cutaneous symptoms of affected children and prevent symptoms in children identified by newborn screening or treated since birth. We have determined thirteen novel mutations in children with the disorder. Two nonsense mutations, eight single missense mutations, three allelic double missense mutations, and two are polymorphisms were identified in the biotinidase gene (BTD). One of the missense mutations, c.734G>A (p. C245Y), is the first to be reported that alters the cysteine in the putative location crucial for ester formation and binding of the biotinyl-moiety in the active site of the enzyme. These mutations add to the growing list of mutations that are helping to delineate structure/function relationships of the enzyme.