{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T23:21:17Z","timestamp":1787613677199,"version":"build-2736575974"},"reference-count":30,"publisher":"Georg Thieme Verlag KG","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am J Perinatol"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>This study aimed to examine genetic testing strategies and their impact on redirection of care and on reducing prognostic uncertainty in the NICU.<\/jats:p>\n                  <jats:p>This is a retrospective cohort study from 2020 to 2021.<\/jats:p>\n                  <jats:p>Out of 774 NICU infants, 133 (17%) received genetic testing, most commonly whole exome sequencing. A genetic diagnosis was achieved in 33% of cases. About 70% of infants who received genetic testing were not critically ill. Decisions about redirection of care were associated with presence of critical illness and not presence of genetic diagnosis. Many rare diagnoses were made through genetic testing in the NICU, but except for certain chromosomal anomalies, these diagnoses had wide variability in reported phenotypic presentations.<\/jats:p>\n                  <jats:p>Genetic testing achieves a unifying diagnosis for many NICU patients, yet many of these diagnoses have variable clinical presentations. Redirection of care in the NICU is reliant on clinical illness severity more often than achievement of a genetic diagnosis. Clinicians must provide meaningful interpretation of genetic test results to families and be prepared to confront uncertainty even after pathogenic variants are found.<\/jats:p>","DOI":"10.1055\/a-2800-4140","type":"journal-article","created":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T00:16:22Z","timestamp":1769818582000},"page":"1597-1605","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Testing and Challenges in a Level IV Midwestern NICU: Who, What, When, and Then?"],"prefix":"10.1055","volume":"43","author":[{"given":"Hannah","family":"McBride","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica Scott","family":"Schwoerer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States"},{"name":"Division of Pediatric Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3132-9346","authenticated-orcid":false,"given":"Erin","family":"Rholl","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States"},{"name":"Division of Pediatric Palliative Care, Medical College of Wisconsin, Milwaukee, Wisconsin, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6073-4669","authenticated-orcid":false,"given":"Krishna","family":"Acharya","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2026,2,10]]},"reference":[{"issue":"03","key":"ref1","doi-asserted-by":"crossref","first-page":"100357","DOI":"10.1016\/j.gim.2022.12.004","article-title":"Hospital-level variation in genetic testing in children's hospitals' neonatal intensive care units from 2016 to 2021","volume":"25","author":"K P Callahan","year":"2023","journal-title":"Genet Med"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/j.jpeds.2019.05.054","article-title":"Making a genetic diagnosis in a level IV neonatal intensive care unit population: who, when, how, and at what cost?","volume":"213","author":"K A Swaggart","year":"2019","journal-title":"J Pediatr"},{"issue":"01","key":"ref3","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1007\/s00431-021-04213-w","article-title":"Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study","volume":"181","author":"A Marouane","year":"2022","journal-title":"Eur J Pediatr"},{"issue":"05","key":"ref4","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1038\/s41372-022-01338-0","article-title":"Detection and impact of genetic disease in a level IV neonatal intensive care unit","volume":"42","author":"L Hagen","year":"2022","journal-title":"J Perinatol"},{"issue":"01","key":"ref5","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1038\/s41525-022-00326-9","article-title":"Integrating rapid exome sequencing into NICU clinical care after a pilot research study","volume":"7","author":"A M D'Gama","year":"2022","journal-title":"NPJ Genom Med"},{"issue":"02","key":"ref6","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1002\/jgc4.1353","article-title":"Rapid genome-wide sequencing in a neonatal intensive care unit: a retrospective qualitative exploration of parental experiences","volume":"30","author":"C E Aldridge","year":"2021","journal-title":"J Genet Couns"},{"issue":"05","key":"ref7","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/S2213-2600(15)00139-3","article-title":"Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings","volume":"3","author":"L K Willig","year":"2015","journal-title":"Lancet Respir Med"},{"issue":"12","key":"ref8","doi-asserted-by":"crossref","first-page":"1554","DOI":"10.1038\/gim.2018.37","article-title":"Meeting the challenges of implementing rapid genomic testing in acute pediatric care","volume":"20","author":"Z Stark","year":"2018","journal-title":"Genet Med"},{"issue":"03","key":"ref9","doi-asserted-by":"crossref","first-page":"e2021052130","DOI":"10.1542\/peds.2021-052130","article-title":"Influence of genetic information on neonatologists' decisions: a psychological experiment","volume":"149","author":"K P Callahan","year":"2022","journal-title":"Pediatrics"},{"issue":"05","key":"ref10","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1007\/s00439-022-02438-9","article-title":"Next generation sequencing in neonatology: what does it mean for the next generation?","volume":"141","author":"A Janvier","year":"2022","journal-title":"Hum Genet"},{"issue":"05","key":"ref11","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1016\/j.ajhg.2020.10.003","article-title":"An RCT of rapid genomic sequencing among seriously ill infants results in high clinical utility, changes in management, and low perceived harm","volume":"107","author":"D P Dimmock","year":"2020","journal-title":"Am J Hum Genet"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"113438","DOI":"10.1016\/j.jpeds.2023.113438","article-title":"Understanding the clinical utility of genome sequencing in critically ill newborns","volume":"258","author":"J D Lantos","year":"2023","journal-title":"J Pediatr"},{"issue":"10","key":"ref13","doi-asserted-by":"crossref","first-page":"e347","DOI":"10.1542\/hpeds.2022-006654","article-title":"Rapid genetic testing in pediatric and neonatal critical care: a scoping review of emerging ethical issues","volume":"12","author":"L Chad","year":"2022","journal-title":"Hosp Pediatr"},{"issue":"08","key":"ref14","doi-asserted-by":"crossref","first-page":"e2225980","DOI":"10.1001\/jamanetworkopen.2022.25980","article-title":"Measures of utility among studies of genomic medicine for critically ill infants: a systematic review","volume":"5","author":"K P Callahan","year":"2022","journal-title":"JAMA Netw Open"},{"issue":"02","key":"ref15","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.jbi.2008.08.010","article-title":"Research electronic data capture (REDCap)\u2014a metadata-driven methodology and workflow process for providing translational research informatics support","volume":"42","author":"P A Harris","year":"2009","journal-title":"J Biomed Inform"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.jpeds.2022.02.008","article-title":"Parent health-related quality of life for infants with congenital anomalies receiving neonatal intensive care","volume":"245","author":"K Acharya","year":"2022","journal-title":"J Pediatr"},{"issue":"07","key":"ref17","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1001\/archpediatrics.2011.102","article-title":"How infants die in the neonatal intensive care unit: trends from 1999 through 2008","volume":"165","author":"J Weiner","year":"2011","journal-title":"Arch Pediatr Adolesc Med"},{"issue":"01","key":"ref18","doi-asserted-by":"crossref","first-page":"e2024069591","DOI":"10.1542\/peds.2024-069591","article-title":"Standardized criteria for genomic testing in the NICU","volume":"156","author":"B M Helm","year":"2025","journal-title":"Pediatrics"},{"issue":"03","key":"ref19","doi-asserted-by":"crossref","first-page":"e127","DOI":"10.1542\/neo.25-3-e127","article-title":"Ethical and legal issues surrounding genetic testing in the NICU","volume":"25","author":"K P Callahan","year":"2024","journal-title":"Neoreviews"},{"issue":"02","key":"ref20","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/s41372-022-01428-z","article-title":"A model to implement genomic medicine in the neonatal intensive care unit","volume":"43","author":"M H Wojcik","year":"2023","journal-title":"J Perinatol"},{"issue":"05","key":"ref21","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1016\/j.gim.2022.01.013","article-title":"Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children","volume":"24","author":"I Goranitis","year":"2022","journal-title":"Genet Med"},{"issue":"05","key":"ref22","first-page":"634","article-title":"The role of genetic testing in palliative care decisions for critically ill newborns","volume":"12","author":"A Mowery","year":"2025","journal-title":"Children (Basel)"},{"issue":"10","key":"ref23","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1177\/10499091241296544","article-title":"Exploring the role of genetic testing in decisions to redirect care in critically ill infants","volume":"42","author":"A Mowery","year":"2025","journal-title":"Am J Hosp Palliat Med"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"114508","DOI":"10.1016\/j.jpeds.2025.114508","article-title":"How neonatologists use genetic information","volume":"280","author":"K P Callahan","year":"2025","journal-title":"J Pediatr"},{"issue":"08","key":"ref25","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1097\/PCC.0000000000003522","article-title":"Rapid whole-genome sequencing and clinical management in the PICU: a multicenter cohort, 2016-2023","volume":"25","author":"K M Rodriguez","year":"2024","journal-title":"Pediatr Crit Care Med"},{"issue":"07","key":"ref26","doi-asserted-by":"crossref","first-page":"994","DOI":"10.7326\/M21-4109","article-title":"The challenge of genetic variants of uncertain clinical significance: a narrative review","volume":"175","author":"W Burke","year":"2022","journal-title":"Ann Intern Med"},{"issue":"02","key":"ref27","doi-asserted-by":"crossref","first-page":"e240146","DOI":"10.1001\/jamanetworkopen.2024.0146","article-title":"National rapid genome sequencing in neonatal intensive care","volume":"7","author":"D Marom","year":"2024","journal-title":"JAMA Netw Open"},{"issue":"06","key":"ref28","doi-asserted-by":"crossref","first-page":"101393","DOI":"10.1016\/j.gim.2025.101393","article-title":"Parents' perceptions of the utility of genetic testing in the NICU","volume":"27","author":"K P Callahan","year":"2025","journal-title":"Genet Med"},{"issue":"04","key":"ref29","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1002\/ajmg.a.62619","article-title":"Perceived utility and disutility of genomic sequencing for pediatric patients: perspectives from parents with diverse sociodemographic characteristics","volume":"188","author":"M C Halley","year":"2022","journal-title":"Am J Med Genet A"},{"issue":"01","key":"ref30","first-page":"34","article-title":"Managing the uncertainty of \u201cprecision\u201d while navigating goals of care: a framework for collaborative interpretation of complex genomic testing results in critically-ill neonates","volume":"13","author":"D E Cortezzo","year":"2025","journal-title":"Children (Basel)"}],"container-title":["American Journal of Perinatology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2800-4140.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T22:41:18Z","timestamp":1787611278000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2800-4140"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,30]]},"references-count":30,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2026,8,24]]},"published-print":{"date-parts":[[2026,9]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2800-4140","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0735-1631","1098-8785"],"issn-type":[{"value":"0735-1631","type":"print"},{"value":"1098-8785","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,1,30]]},"published":{"date-parts":[[2026,1,30]]}}}