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Universal Newborn Screening for Congenital Cytomegalovirus Using Dried Blood Spot Specimens

Tavakoli, Norma P; Sack, Virginia; Handel, Andrew S; Giacinto, Alyssa; Pearce, Melissa; Ojukwu, Ifeyinwa; McManaman, Charity; St-Pierre, Marc; DiAntonio, Lisa; Saavedra-Matiz, Carlos; Brandon, Christopher J; Steen, Lequela; Salvatore, Christine M; Sood, Sunil; Piwoz, Julia A; John, Minnie; DeLaMora, Patricia; Nolan, Sheila M; Ungar, Stephanie P; Weiner, Leonard B; Daniels, Danielle; Nayak, Jennifer L; Quinn, Michael; Weinberg, Geoffrey A; Hicar, Mark D; Rebello, Gitanjali; Taormina, Gillian; Daniel, Jency M; Hymes, Saul; Nachman, Sharon; Bradley, Sarah; Kay, Denise M; Caggana, Michele
IMPORTANCE/UNASSIGNED:Congenital cytomegalovirus (cCMV) is the most common nongenetic cause of sensorineural hearing loss in children and a cause of long-term neurological disabilities. In the absence of universal screening, cCMV disease in many newborns will go undiagnosed and untreated. OBJECTIVE/UNASSIGNED:To determine the feasibility, screen-positive rate, and parental acceptance of newborn screening for cCMV using dried blood spot (DBS) specimens. DESIGN, SETTING, AND PARTICIPANTS/UNASSIGNED:In this population-based diagnostic study, newborns whose DBS specimens were submitted to the New York State Newborn Screening Program from October 2, 2023, through September 30, 2024, for routine screening were also screened for CMV. Parents were given the option to opt out of receiving CMV results. Infectious disease specialists at designated medical centers performed follow-up of referred newborns. Of the 208 322 newborns whose specimens were submitted, 245 (0.1%) were opted out of the CMV screen by their parents; 22 families did so after CMV results were released. EXPOSURE/UNASSIGNED:DBS screening of newborns. MAIN OUTCOMES AND MEASURES/UNASSIGNED:CMV was detected in DBS specimens from newborns using a quantitative polymerase chain reaction analysis. Appropriate follow-up and treatment were provided to referred newborns. RESULTS/UNASSIGNED:Of the 208 099 newborns (48.6% female and 51.0% male; mean [SD] age at specimen collection, 3.5 [12.3] days [median, 1.0 days]) whose CMV results were reported, 529 had positive CMV screen results (0.3%). Following referral and initial diagnostic evaluation, 276 of the 529 newborns (52.2%) were diagnosed with cCMV (overall rate of 0.1%). Among the 276 newborns with cCMV, 68 (24.6%) had symptomatic cCMV disease, 197 (71.4%) had asymptomatic infection, and 11 (4.0%) had isolated sensorineural hearing loss. Additionally, 131 of the 529 referred newborns (24.8%) had likely acquired CMV postnatally, 17 (3.2%) had false-positive screen results, 43 (8.1%) had unknown CMV classification, and 62 (11.7%) were lost to follow-up or their parents declined follow-up. Of the 68 newborns with symptomatic cCMV disease, 48 (70.6%) were treated with antiviral medication. CONCLUSIONS AND RELEVANCE/UNASSIGNED:In this diagnostic study, early identification of cCMV allowed newborns to be evaluated, which provided an opportunity for improved outcomes. Although the intent of the screening was to detect cCMV, a sizeable minority of cases identified had postnatally acquired CMV infections. Further studies that incorporate long-term data are needed to better understand the impact of cCMV identification among newborns with asymptomatic infection.
PMID: 41609826
ISSN: 2574-3805
CID: 6003642

Cefiderocol Red Wine Urine Syndrome in Pediatric Patients: A Multicenter Case Series

Shapiro, Kate; Ungar, Stephanie P; Krugman, Jessica; McGarrity, Orlagh; Cross, Shane J; Indrakumar, Bairavi; Hatcher, James; Ratner, Adam J; Wolf, Joshua
Cefiderocol is a novel cephalosporin antibiotic with activity against multidrug-resistant gram-negative bacteria and limited pediatric experience. This case series describes 3 immunocompromised children receiving blood transfusion who developed benign red or purple urine with administration of cefiderocol. Interaction with iron from blood products is a possible mechanism. It is important to recognize this phenomenon and distinguish it from hematuria to avoid unnecessary diagnostic testing.
PMID: 37922468
ISSN: 1532-0987
CID: 5607072

Mpox in Children: 3 Cases

Frantzis, Irene; Ungar, Stephanie P; Soma, Vijaya L; Knutsen, Dorothy; Mazo, Dana; Zucker, Jason
Although the 2022 mpox outbreak mostly affected adults, its effect on children and adolescents was also substantial. In this report, we describe the clinical course and treatment of the first 3 known cases of mpox in children in New York City. These cases are instructive because they illustrate various routes of transmission, clinical presentations, and diagnostic challenges that differ from previous reports of mpox in endemic countries and previous mpox outbreaks. Of note is that each of the 3 patients received treatment with tecovirimat under an US Food and Drug Administration expanded access investigational new drug application and improved without exhibiting adverse reactions.
PMID: 38239109
ISSN: 1098-4275
CID: 5627642

Hospital and ICU Admission Risk Associated With Comorbidities Among Children With COVID-19 Ancestral Strains

Ungar, Stephanie P; Solomon, Sadie; Stachel, Anna; Shust, Gail F; Clouser, Katharine N; Bhavsar, Sejal M; Lighter, Jennifer
A large proportion of children have been affected by COVID-19; we evaluated the association between comorbidities and hospitalization/ICU (intensive care unit) admission among 4097 children under age 21 years with symptomatic COVID-19 (not just polymerase chain reaction [PCR]-positive or multisystem inflammatory syndrome in children associated with COVID-19 [MIS-C]) from 2 large health systems from March 2020 to September 2021. Significant comorbidities and demographic factors identified by univariable analysis were included in a multivariable logistic regression compared with children ages 6 to 11 without comorbidities. In all, 475 children (11.6%) were hospitalized, of whom 25.5% required ICU admission. Children under 1 year had high hospitalization risk, but low risk of ICU admission. Presence of at least 1 comorbidity was associated with hospitalization and ICU admission (odds ratio [OR] > 4). Asthma, obesity, chronic kidney disease, sickle cell disease, bone marrow transplantation, and neurologic disorders were associated with hospitalization (adjusted odds ratio [AOR] > 2). Malignancy, intellectual disability, and prematurity were associated with ICU admission (AOR > 4). Comorbidities are significantly associated with hospitalization/ICU admission among children with COVID-19.
PMCID:9895283
PMID: 36661087
ISSN: 1938-2707
CID: 5419282

COVID, monkeypox, polio...oh my! The real risks of infection for your child [Newspaper Article]

Lighter, Jennifer; Ungar, Stephanie
ORIGINAL:0016797
ISSN: 2692-1251
CID: 5477402

Do Not Forget About the Ticks: An Unusual Cause of Fever, GI Distress, and Cytopenias in a Child With ALL

Ungar, Stephanie P; Varkey, Joyce; Pierro, Joanna; Raetz, Elizabeth; Ratner, Adam J
We report the case of a 5-year-old male with B-cell acute lymphoblastic leukemia in remission, receiving maintenance chemotherapy, who presented with fever, emesis, diarrhea, headache, and lethargy. He developed rapidly progressive cytopenias and was found to have acute human granulocytic anaplasmosis as well as evidence of past infection with Babesia microti. The case highlights the need to maintain a broad differential for infection in children undergoing chemotherapy or other immunosuppressive therapies with possible or known tick exposure.
PMID: 34935737
ISSN: 1536-3678
CID: 5108892

HIV Pre-Exposure Prophylaxis: What Do Pediatricians Need to Know?

Ungar, Stephanie P; Paret, Michal; Shust, Gail F
Pediatricians and adolescent providers play an important role in the health and well-being of adolescents and young adults, including their sexual health. HIV remains an ongoing concern for young people, with 21% of new HIV diagnoses occurring in this age group. The use of antiretroviral therapy for pre-exposure prophylaxis (PrEP) to prevent transmission of HIV to people who are not infected has been proven safe and effective. PrEP can be considered as part of a comprehensive risk mitigation strategy for adolescents and young adults, with clear guidelines for baseline evaluation and ongoing management. [Pediatr Ann. 2022;51(5):e191-e195.].
PMID: 35575536
ISSN: 1938-2359
CID: 5468942

Why children are far less at risk from COVID: An explainer [Newspaper Article]

Lighter, Jennifer; Ungar, Stephanie
ORIGINAL:0016796
ISSN: 2692-1251
CID: 5477392

Impact of Prenatal SARS-CoV-2 Infection on Infant Emergency Department Visits and Hospitalization

Ungar, Stephanie P; Solomon, Sadie; Stachel, Anna; Demarco, Kathleen; Roman, Ashley S; Lighter, Jennifer
To better understand the impact of prenatal severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection on infants, this study sought to compare the risk of hospital visits and of postnatal SARS-CoV-2 infection between infants born to mothers with and without prenatal SARS-CoV-2 infection. In this retrospective observational cohort study of 6871 mothers and their infants, overall rates of emergency department (ED) visits and hospital admissions in the first 90 days of life were similar for infants born to mothers with and without prenatal SARS-CoV-2 infection. Infants born to negative mothers were more likely than infants of positive mothers to be hospitalized after ED visit (relative risk: 3.76; 95% confidence interval: 1.27-11.13, P = .003). Five infants tested positive; all were born to negative mothers, suggesting that maternal prenatal SARS-CoV-2 infection may protect infants from postnatal infection. The lower acuity ED visits for infants born to mothers with prenatal SARS-CoV-2 infection may reflect a heightened level of concern among these mothers.
PMID: 34903074
ISSN: 1938-2707
CID: 5080812

50 Years Ago in TheJournalofPediatrics: Same Bug, Different Drugs: The Persistent Threat of Escherichia coli Neonatal Sepsis

Popofsky, Stephanie; Pellett Madan, Rebecca
PMID: 34030838
ISSN: 1097-6833
CID: 4887632