Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons^™

Metronidazole Metabolism In Neonates And The Interplay Between Ontogeny And Genetic Variation., Laura A. Wang, Daniel Gonzalez, J Steven Leeder, Rachel F. Tyndale, Robin E. Pearce, Daniel K. Benjamin, Gregory L. Kearns, Michael Cohen-Wolkowiez, Best Pharmaceuticals For Children Act-Pediatric Trials Network Steering Committee

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Surrogate Pregnancy After Prenatal Diagnosis Of Spina Bifida., Lynnette J. Mazur, Mary Kay Kisthardt, Helen H. Kim, Laura M. Rosas, John Lantos

Manuscripts, Articles, Book Chapters and Other Papers

Some pregnancies today involve infertile individuals or couples who contract with a fertile woman to carry a pregnancy for them. The woman who carries the pregnancy is referred to as a "gestational carrier." The use of such arrangements is increasing. Most of the time, these arrangements play out as planned; sometimes, however, problems arise. This article discusses a case in which a fetal diagnosis of spina bifida led the infertile couple to request that the gestational carrier terminate the pregnancy, and the gestational carrier did not wish to do so. Experts in the medical and legal issues surrounding surrogacy discuss …

Use Of The Ketogenic Diet In The Neonatal Intensive Care Unit-Safety And Tolerability., Lindsey M. Thompson, Erin Day Fecske, Mohammad Salim, Ara Hall

Manuscripts, Articles, Book Chapters and Other Papers

Drug-resistant epilepsy poses a challenge in neonatal patients, especially those in the neonatal intensive care unit (NICU), who have various secondary comorbidities. We present results of four children with a history of drug-resistant epilepsy for whom a ketogenic diet was initiated and used in the NICU. A nonfasting induction into ketosis over 1-2 weeks was utilized, with gradual increases in the ketogenic ratio every 2-3 days. Data were collected retrospectively from a database, which included medical history, daily progress notes, relevant laboratory data, and imaging and diagnostic information. The ketogenic diet was well tolerated in all cases. The most common …

High Throughput In Vivo Functional Validation Of Candidate Congenital Heart Disease Genes In Drosophila., Jun-Yi Zhu, Yulong Fu, Margaret Nettleton, Adam Richman, Zhe Han

Pediatrics Faculty Publications

Genomic sequencing has implicated large numbers of genes and de novo mutations as potential disease risk factors. A high throughput in vivo model system is needed to validate gene associations with pathology. We developed a Drosophila-based functional system to screen candidate disease genes identified from Congenital Heart Disease (CHD) patients. 134 genes were tested in the Drosophila heart using RNAi-based gene silencing. Quantitative analyses of multiple cardiac phenotypes demonstrated essential structural, functional, and developmental roles for more than 70 genes, including a subgroup encoding histone H3K4 modifying proteins. We also demonstrated the use of Drosophila to evaluate cardiac phenotypes resulting …

Abnormal Glycosylation In Joubert Syndrome Type 10., Megan S Kane, Mariska Davids, Michelle R Bond, Christopher J Adams, Megan E Grout, Ian G Phelps, Gilbert Vezina, +Several Additional Authors

Neurology Faculty Publications

BACKGROUND: The discovery of disease pathogenesis requires systematic agnostic screening of multiple homeostatic processes that may become deregulated. We illustrate this principle in the evaluation and diagnosis of a 5-year-old boy with Joubert syndrome type 10 (JBTS10). He carried the OFD1 mutation p.Gln886Lysfs*2 (NM_003611.2: c.2656del) and manifested features of Joubert syndrome.

METHODS: We integrated exome sequencing, MALDI-TOF mass spectrometry analyses of plasma and cultured dermal fibroblasts glycomes, and full clinical evaluation of the proband. Analyses of cilia formation and lectin staining were performed by immunofluorescence. Measurement of cellular nucleotide sugar levels was performed with high-performance anion-exchange chromatography with pulsed amperometric …

Reliability And Validity Of The Hd-Pro-Triadtm, A Health-Related Quality Of Life Measure Designed To Assess The Symptom Triad Of Huntington's Disease., Nicholas R Boileau, Julie C Stout, Janes S Paulsen, David Cella, Michael K Mccormack, Martha A Nance, Samuel Frank, Jin-Shei Lai, Noelle E Carlozzi

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Huntington's disease (HD), is a neurodegenerative disorder that is associated with cognitive, behavioral, and motor impairments that diminish health related quality of life (HRQOL). The HD-PRO-TRIADTM is a quality of life measure that assesses health concerns specific to individuals with HD. Preliminary psychometric characterization was limited to a convenience sample of HD participants who completed measures at home so clinician-ratings were unavailable.

OBJECTIVES: The current study evaluates the reliability and validity of the HD-PRO-TRIADTM in a well-characterized sample of individuals with HD.

METHODS: Four-hundred and eighty-two individuals with HD (n = 192 prodromal, n = 193 early, and n …

Analyzing The Phenotypic Effect Of Three Candidate Genes Associated With Nonsyndromic Craniosynostosis Using A Zebrafish Model, Megan A. Hept

Theses and Dissertations

In normal cranial suture development, the cranial sutures close at predetermined periods of development to allow the brain the capability to grow in a malleable environment. However, in craniosynostosis, cranial sutures prematurely fuse before birth which can lead to a wide range of developmental issues and complications. Craniosynostosis can be categorized as nonsyndromic which involves the sole fusion of one or more of the cranial sutures, or syndromic in which cranial sutures fuse as well as other abnormalities associated with a genetic disorder. Past research has identified three candidate genes that could be possible disease causing mutations in nonsyndromic sagittal …

Promotion Of Early Pediatric Hearing Detection Through Patient Navigation, Matthew L. Bush

Theses and Dissertations--Clinical and Translational Science

Congenital hearing loss is the most common neonatal sensory disorder and it is crucial to diagnose hearing loss as soon as possible after birth in order to facilitate rapid treatment. Universal standards of infant hearing healthcare dictate that infant hearing screening should be completed by one month of age and abnormal screening tests should be followed with definitive audiological testing by three months of age. Obtaining diagnostic testing can be complicated by limited access to care in rural areas, breakdowns in communication, lack of parental support, and poor coordination of care. There is no established method to address appointment non-adherence …

Immunodeficiency-Associated Lymphoid Hyperplasia As A Cause Of Intussusception In A Case Of Activated Pi3k-Δ Syndrome., Daniel Mettman, Isabelle Thiffault, Chitra Dinakar, Carol J. Saunders

Manuscripts, Articles, Book Chapters and Other Papers

Activated PI3K-δ syndrome refers to a recently described primary immunodeficiency syndrome consisting of recurrent sinopulmonary infections, lymphadenopathy, mucosal lymphoid aggregates, increased susceptibility to Epstein-Barr virus and cytomegalovirus, and increased incidence of B-cell lymphomas. Variants in PIK3CD, which encodes the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta isoform, enhance membrane association and kinase activity, resulting in increased signal transduction through the PI3K-Akt pathway. Whole-exome sequencing revealed a pathogenic PIK3CD variant in a patient with history of immunologic impairment, recurrent sinopulmonary infections, and lymphoid hyperplasia presenting as intussusception. This case illustrates that while lymphoid hyperplasia secondary to immunodeficiency is most often unsurprising and …

A Novel Compound-Heterozygous Epithelial Cell Adhesion Molecule Mutation In Tufting Enteropathy., Valentina Shakhnovich, Darrell Dinwiddie, Amber Hildreth, Thomas M. Attard, Stephen Kingsmore

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Speckle-Tracking Echocardiographic Measures Of Right Ventricular Diastolic Function Correlate With Reference Standard Measures Before And After Preload Alteration In Children., Shahryar M. Chowdhury, Suma Goudar, G Hamilton Baker, Carolyn L. Taylor, Girish S. Shirali, Mark K. Friedberg, Andreea Dragulescu, Karen S. Chessa, Luc Mertens

Manuscripts, Articles, Book Chapters and Other Papers

The accuracy of echocardiographic measures of right ventricular (RV) diastolic function has been sparsely studied. Our objective was to evaluate the correlation between echocardiographic and reference standard measures of RV diastolic function derived from micromanometer pressure analysis before and after preload alteration in children. Echocardiograms and micromanometer pressure analyses were prospectively performed before and after fluid bolus in children undergoing right heart catheterization. The isovolumic relaxation time constant (τ) and end-diastolic pressure (EDP) were measured. Conventional and speckle-tracking echocardiographic (STE) parameters of RV systolic and diastolic function were assessed. Normal saline bolus was given to increase RV EDP by 20 …

Biomarkers Of Sepsis: A Retrospective Approach, Jose M. Roberts

Williams Honors College, Honors Research Projects

Background: Biomarkers are taking the spotlight in becoming the norm for early diagnoses. Sepsis is an inflammatory disease that increases metabolic rate in children. The first biomarker is hyponatremia. Hyponatremia is a frequent electrolyte imbalance in clinical practice, often observed in children with inflammatory disease and infection. Presence of hyponatremia is associated with electrical signaling imbalances, inflammation and renal dysfunction. The clinical value of hyponatremia in pediatric patients is unknown. The C-reactive protein is a second biomarker. Its presence signifies that necrotic cells and inflammation are present.

Objectives: To evaluate the use of biomarkers in children seen in the Emergency …

A Singleton Infant With Bilateral Renal Agenesis And Normal Pulmonary Function., Lovya George, Winston M. Manimtim, Jotishna Sharma

Manuscripts, Articles, Book Chapters and Other Papers

Bilateral renal agenesis leads to anhydramnios and other sequelae including pulmonary hypoplasia. There have been rare case reports of normal pulmonary function in the presence of bilateral renal agenesis in monoamniotic discordant twins, but this has never been reported in a singleton pregnancy. The few reported cases in twins have all been fatal in the neonatal period with no reported cases of survival beyond 2 months. We describe the first case of a singleton infant with bilateral renal agenesis who had normal pulmonary function and did well on peritoneal dialysis for 4 years while awaiting a renal transplant.

Bleeding Meckel's Diverticulum In Children: The Diagnostic Value Of Double-Balloon Enteroscopy., Lan-Lan Geng, Pei-Yu Chen, Qiang Wu, Hui-Wen Li, Ding-You Li, Min Yang, Si-Tang Gong

Manuscripts, Articles, Book Chapters and Other Papers

Background. Meckel's diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract. The purpose of this study was to evaluate the diagnostic value and safety of double-balloon enteroscopy (DBE) for bleeding MD in children. Methods. We included consecutive children who were highly suspected of MD between 2012 and 2013. All patients underwent Meckel's scan. DBE was performed for patient with negative Meckel's scan. An exploratory laparoscopy was performed in children with positive Meckel's scan or DBE. Results. 42 patients met the inclusion criteria. 40 patients were confirmed to have MD by exploratory laparoscopy. Meckel's scan …

Health-Related Quality Of Life (Hr-Qol) And Chronic Health Conditions In Survivors Of Childhood Acute Myeloid Leukemia (Aml) With Down Syndrome (Ds): A Report From The Children's Oncology Group., Kris Ann P. Schultz, Lu Chen, Alicia Kunin-Batson, Zhengjia Chen, William G. Woods, A S. Gamis, Toana Kawashima, Kevin C. Oeffinger, H Stacy Stacy Nicholson, Joseph P. Neglia

Manuscripts, Articles, Book Chapters and Other Papers

Survival rates for children with Down syndrome (DS) and acute myeloid leukemia (AML) are high; however, little is known regarding the health-related quality of life (HR-QOL) of these survivors. Individuals who survived ≥5 years following diagnosis of childhood AML were invited to complete parent or patient-report surveys measuring HR-QOL and chronic health conditions. In total, 26 individuals with DS had a median age at diagnosis of 1.8 years (range, 0.77 to 10.9 y) and median age at interview of 15 years (range, 8.3 to 27.6 y). Participants with DS and AML were compared with AML survivors without DS whose caregiver …

Relationship Between Hospital Procedure Volume And Complications Following Congenital Cardiac Catheterization: A Report From The Improving Pediatric And Adult Congenital Treatment (Impact) Registry., Natalie Jayaram, John A. Spertus, Michael L. O'Byrne, Paul S. Chan, Kevin F. Kennedy, Lisa Bergersen, Andrew C. Glatz

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: The association between institutional volume and outcomes has been demonstrated for cardiac catheterization among adults, but less is known about this relationship for patients with congenital heart disease (CHD) undergoing cardiac catheterization.

METHODS: Within the IMPACT registry, we identified all catheterizations between January 2011 and March 2015. Hierarchical logistic regression, adjusted for patient and procedural characteristics, was used to determine the association between annual catheterization lab volume and occurrence of a major adverse event (MAE).

RESULTS: Of 56,453 catheterizations at 77 hospitals, an MAE occurred in 1014 (1.8%) of cases. In unadjusted analysis, a MAE occurred in 2.8% (123/4460) …

Concerns About Justification For Fetal Genome Sequencing, Leslie Francis

Utah Law Faculty Scholarship

The proposal by Chen and Wasserman (2017) contributes to a long-standing debate about the scope of prenatal screening services. With realistic prospects of fetal genome-scale sequencing from noninvasive maternal blood sampling (NIPW), their framework is timely. However, we outline a number of concerns regarding this approach, ranging from the philosophical to the social and clinical. A key concern in this literature is that the framework lacks a clear philosophical foundation. Despite the long history of prenatal diagnosis (PND), a central question remains regarding the core justification for these services.

Pharmacotherapeutic Considerations For Individuals With Down Syndrome, Erik Hefti

Harrisburg University Faculty Works

Down syndrome (DS; trisomy 21) is the most common survivable disorder due to aneuploidy. Individuals with DS may experience multiple comorbid health problems including congenital heart defects, endocrine abnormalities, skin and dental problems, seizure disorders, leukemia, dementia, and obesity. These associated conditions may necessitate pharmacotherapeutic management with various drugs. The complex pathobiology of DS may alter drug disposition and drug response in some individuals. For example, reports have documented increased rates of adverse drug reactions in patients with DS treated for leukemia and dementia. Intellectual disability resulting from DS may impact adherence to medication regimens. In this review, we highlight …

Late Onset Of Pulmonary Hypertension And Sepsis In Omphalocele Infants, Joanne E. Baerg, Arul Thirumoorthi, Whitney Carlton, Shelly Haug, Andrew O. Hopper, Donna Goff, Sandhya Ramlogan, Shawn D. St Peter

Manuscripts, Articles, Book Chapters and Other Papers

A subset of omphalocele infants has respiratory decompensation after the first week of life and PHN is diagnosed. Infection may initiate decompensation. In some, PHN is distinct from pulmonary hypoplasia as they oxygenate on room air for some time after birth. With aggressive treatment and follow-up, PHN can resolve. The late diagnosis of PHN in infants with omphalocele is previously unappreciated and deserves further study.

Should Neonatologists Give Opinions Withdrawing Life-Sustaining Treatment?, J S. Blumenthal-Barby, Laura Loftis, Christy L. Cummings, William Meadow, Monica Lemmon, Peter A. Ubel, Laurence Mccullough, Emily Rao, John Lantos

Manuscripts, Articles, Book Chapters and Other Papers

An infant has a massive intracranial hemorrhage. She is neurologically devastated and ventilator-dependent. The prognosis for pulmonary or neurologic recovery is bleak. The physicians and parents face a choice: withdraw the ventilator and allow her to die or perform a tracheotomy? The parents cling to hope for recovery. The physician must decide how blunt to be in communicating his own opinions and recommendations. Should the physician try to give just the facts? Or should he also make a recommendation based on his own values? In this article, experts in neonatology, decision-making, and bioethics discuss this situation and the choice that …

A Trial Of Unrelated Donor Marrow Transplantation For Children With Severe Sickle Cell Disease., Shalini Shenoy, Mary Eapen, Julie A. Panepinto, Brent R. Logan, Juan Wu, Allistair Abraham, Joel Brochstein, Sonali Chaudhury, Kamar Godder, Ann E. Haight, Kimberly A. Kasow, Kathryn Leung, Martin Andreansky, Monica Bhatia, Jignesh Dalal, Hilary Haines, Jennifer Jaroscak, Hillard M. Lazarus, John E. Levine, Lakshmanan Krishnamurti, David Margolis, Gail C. Megason, Lolie C. Yu, Michael A. Pulsipher, Iris Gersten, Nancy Difronzo, Mary M. Horowitz, Mark C. Walters, Naynesh Kamani

Manuscripts, Articles, Book Chapters and Other Papers

Children with sickle cell disease experience organ damage, impaired quality of life, and premature mortality. Allogeneic bone marrow transplant from an HLA-matched sibling can halt disease progression but is limited by donor availability. A Blood and Marrow Transplant Clinical Trials Network (BMT CTN) phase 2 trial conducted from 2008 to 2014 enrolled 30 children aged 4 to 19 years; 29 were eligible for evaluation. The primary objective was 1-year event-free survival (EFS) after HLA allele-matched (at HLA-A, -B, -C, and -DRB1 loci) unrelated donor transplant. The conditioning regimen included alemtuzumab, fludarabine, and melphalan. Graft-versus-host disease (GVHD) prophylaxis included calcineurin inhibitor, …

Functional Validation Of Novel Compound Heterozygous Variants In B3gat3 Resulting In Severe Osteopenia And Fractures: Expanding The Disease Phenotype., Florian Job, Shuji Mizumoto, Laurie Smith, Natario Couser, Ashley Brazil, Howard Saal, Melanie Patterson, Margaret Gibson, Sarah E. Soden, Neil A. Miller, Isabelle Thiffault, Carol J. Saunders, Shuhei Yamada, Katrin Hoffmann, Kazuyuki Sugahara, Emily G. Farrow

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: A new disease class of syndromes, described as linkeropathies, which are derived from defects in the glycosaminoglycan-linker region as well as glycosaminoglycan-side chains of proteoglycans is increasingly being recognized as a cause of human disease. Proteoglycans are an essential component of the extracellular matrix. Defects in the enzymatic process of proteoglycan synthesis broadly occur due to the incorrect addition of side chains. Previously, homozygous missense variants within the B3GAT3 gene encoding beta 1,3 glucuronyltransferase 3(GlcAT-I) responsible for the biosynthesis of glycosaminoglycans have been described in 7 individuals.

CASE PRESENTATION: In this study, a 4-year-old patient with a severe phenotype …

Losing Ground: Awareness Of Congenital Cytomegalovirus In The United States, Sara M. Doutre, Tyson S. Barrett, Janelle Greenlee, Karl R. White

Journal of Early Hearing Detection and Intervention

One in 150 infants is born with cytomegalovirus (CMV) and one in 750 will have lifelong disabilities due to CMV. Even though congenital CMV is the leading viral cause of congenital disabilities and the leading non-genetic cause of childhood hearing loss, most adults have never heard of it. Data from the 2015 and 2016 HealthStyles^TM surveys were analyzed and compared to data from similar studies and show an awareness rate of 7% for US adults (5% for men and 9% for women), a statistically significant decrease from 2005 and 2010 studies. Predictors of awareness include gender and education level. …

More Than Medication: Perinatal Palliative Care., Brian S. Carter

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Parental Refusal Of Surgery In An Infant With Tricuspid Atresia., Alexander A. Kon, Angira Patel, Steven Leuthner, John Lantos

Manuscripts, Articles, Book Chapters and Other Papers

We present a case of a fetal diagnosis of tricuspid atresia (TA). The pregnant woman and her husband requested that the baby be treated with only palliative care. The cardiologist did not think it would be appropriate to withhold life-prolonging surgery once the infant was born. The neonatologist argued that outcomes for TA are similar to those for hypoplastic left heart syndrome, and the standard practice at the institution was to allow parents to choose surgery or end-of-life care for those infants. The team requested an ethics consultation to assist in determining whether forgoing life-prolonging interventions in this case would …

Assessment Of Diastolic Function In Single-Ventricle Patients After The Fontan Procedure., Renee Margossian, Lynn A. Sleeper, Gail D. Pearson, Piers C. Barker, Luc Mertens, Michael D. Quartermain, Jason T. Su, Girish S. Shirali, Shan Chen, Steven D. Colan, Pediatric Heart Network Investigators

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Patients with functional single ventricles after the Fontan procedure have abnormal cardiac mechanics. The aims of this study were to determine factors that influence diastolic function and to describe associations of diastolic function with current clinical status.

METHODS: Echocardiograms were obtained as part of the Pediatric Heart Network Fontan Cross-Sectional Study. Diastolic function grade (DFG) was assessed as normal (grade 0), impaired relaxation (grade 1), pseudonymization (grade 2), or restrictive (grade 3). Studies were also classified dichotomously (restrictive pattern present or absent). Relationships between DFG and pre-Fontan variables (e.g., ventricular morphology, age at Fontan, history of volume-unloading surgery) and …

Native T1 Values Identify Myocardial Changes And Stratify Disease Severity In Patients With Duchenne Muscular Dystrophy., Laura J. Olivieri, Peter Kellman, Robert J. Mccarter, Russell R. Cross, Michael S. Hansen, Christopher F. Spurney

Pediatrics Faculty Publications

BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked, inherited disorder causing dilated cardiomyopathy with variable onset and progression. Currently we lack objective markers of the effect of therapies targeted towards preventing progression of subclinical cardiac disease. Thus, our aim was to compare the ability of native T1 and extracellular volume (ECV) measurements to differentiate risk of myocardial disease in DMD and controls.

METHODS: Twenty boys with DMD and 16 age/gender-matched controls without history predisposing to cardiac fibrosis, but with a clinical indication for cardiovascular magnetic resonance (CMR) evaluation, underwent CMR with contrast. Data points collected include left ventricular ejection fraction …

Feasibility Of A Community-Based Sickle Cell Trait Testing And Counseling Program, Ashley Housten, Regina Abel, Terianne Lindsey, Allison King

Journal of Health Disparities Research and Practice

Background: Sickle cell trait (SCT) screening is required at birth in the United States; however, adults rarely know their SCT status prior to having children.

Purpose: Assess feasibility of a community-based SCT education and testing intervention.

Methods: Participants were recruited from eight community sites to complete an educational program and offered a hemoglobin analysis. A genetic counselor met individually with participants to discuss lab results.

Results: Between July 14, 2010 and May 31, 2012, 637 participants completed the educational program. Five hundred seventy (89.5%) provided a blood sample, and 61 (10.9%) had SCT or other hemoglobinopathies. The genetic counselor met …

Hdqlife: Development And Assessment Of Health-Related Quality Of Life In Huntington Disease (Hd), N E Carlozzi, S G Schilling, J-S Lai, J S Paulsen, E A Hahn, J S Perlmutter, C A Ross, N R Downing, A L Kratz, M K Mccormack, M A Nance, K A Quaid, J C Stout, R C Gershon, R E Ready, J A Miner, S K Barton, S L Perlman, S M Rao, S Frank, I Shoulson, H Marin, M D Geschwind, P Dayalu, S M Goodnight, D Cella

Rowan-Virtua School of Osteopathic Medicine Departmental Research

PURPOSE: Huntington disease (HD) is a chronic, debilitating genetic disease that affects physical, emotional, cognitive, and social health. Existing patient-reported outcomes (PROs) of health-related quality of life (HRQOL) used in HD are neither comprehensive, nor do they adequately account for clinically meaningful changes in function. While new PROs examining HRQOL (i.e., Neuro-QoL-Quality of Life in Neurological Disorders and PROMIS-Patient-Reported Outcomes Measurement Information System) offer solutions to many of these shortcomings, they do not include HD-specific content, nor have they been validated in HD. HDQLIFE addresses this by validating 12 PROMIS/Neuro-QoL domains in individuals with HD and by using established PROMIS …

Early Cumulative Supplemental Oxygen Predicts Bronchopulmonary Dysplasia In High Risk Extremely Low Gestational Age Newborns., Katherine C. Wai, Michael A. Kohn, Roberta A. Ballard, William E. Truog, Dennis M. Black, Jeanette M. Asselin, Philip L. Ballard, Elizabeth E. Rogers, Roberta L. Keller, Trial Of Late Surfactant (Tolsurf) Study Group

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To assess the prognostic accuracy of early cumulative supplemental oxygen (CSO) exposure for prediction of bronchopulmonary dysplasia (BPD) or death, and to evaluate the independent association of CSO with BPD or death.

STUDY DESIGN: We performed a secondary analysis of the Trial of Late Surfactant, which enrolled 511 infants born at ≤28 weeks gestational age who were mechanically ventilated at 7-14 days of life. Our primary outcome was BPD or death at 36 weeks postmenstrual age, as determined by a physiological oxygen/flow challenge. Average daily supplemental oxygen (fraction of inspired oxygen - 0.21) was calculated. CSO was calculated as …