FISH for 22q11.2 deletion not cost-effective for infants with congenital heart disease with microarray.

The objective of this study is to evaluate the yield of genetic testing in infants with congenital heart disease, who undergo surgical intervention prior to one year of age, and develop a cost-effective strategy to screen infants with congenital heart disease for genetic conditions while providing standard of care. 409 charts of patients with congenital heart disease, who underwent surgical intervention prior to one year of age, were retrospectively reviewed for cytogenetic testing results. 278 patients underwent cytogenetic testing, and 89.6 % of these patients had more than one cytogenetic test completed. The most commonly encountered chromosomal anomaly within the sample was Down Syndrome (12.5 %), followed by 22q11.2 Deletion Syndrome (4.6 %). G-Banded Karyotypes were abnormal in 10.5 % of patients, fluorescence in situ hybridization (FISH) probe for 22q11.2 deletion was abnormal in 7.1 % of patients. SNP microarray testing showed the highest yield and was abnormal in 33 % of patients. Based on the data at our institution, a more directed approach of genetic screening with only microarray would have saved our institution approximately $101, 200 on the 103 patients who underwent genetic evaluation with microarray reviewed. Screening infants with congenital heart disease for 22q11.2 deletion with FISH resulted in a loss of approximately $32,000 per 100 patients at our institution. Institutions should develop microarray-based protocols for genetic screening in patients with congenital heart disease with the anticipation of adding lesion-specific single gene testing as single gene testing becomes routinely available.

Pediatric surgical wait priority score (pSWAPS): Modifying a health system's adult-based elective surgery prioritization system for children's surgery during the COVID-19 pandemic.

BACKGROUND: With the rise of COVID-19 cases, societies recommended canceling all elective surgical procedures because of perioperative concerns, transmission risk, and the need to divert resources. Once the number of cases stabilized, there was recognition that a system was needed to triage and prioritize scheduling operations. METHODS: A universal scoring system to triage surgical elective cases was developed for the Advocate Aurora Health system (Surgical Wait Priority Score, SWAPS) and was modified for use in pediatrics (pSWAPS). Resource-related, patient-related, and case urgency factors were used to create the overall score. Interrater reliability of ten cases was determined by four surgeons' scores and calculating Fleiss' Kappa coefficient. The system has been used for two months at two operating rooms with different resource restrictions with the goal of prioritizing elective cases. RESULTS: 18 factors were identified as significant contributors to the pWAPS creating a cumulative score ranging from 0 to 120. In the first month, 61 and 99 procedures were screened at the Oak Lawn (OL) and Park Ridge (PR) campuses respectively, and in the second month, 94 (OL) and 135 (PR) procedures were evaluated. The average pSWAPS scores were 37.9 at OL and 54.3 at PR. All cases that had scores within the immediate group were scheduled and completed. CONCLUSION: The pSWAPS system is a simple, flexible scoring system that takes into consideration resource constraints. pSWAPS has been used for two months. It has served as an effective tool for safe and methodical reintroduction of elective procedures during the COVID-19 pandemic and could be used again for another surge. LEVEL OF EVIDENCE: prognosis study, level of evidence - 4.