NeoReviewsPub Date : 2026-01-01DOI: 10.1542/neo.27-1-087
Katlyn G McKay, Erin E Von Klein, Emily Morris, Kevin Johnson
{"title":"Infant Readmission With Severe Acute Respiratory Failure.","authors":"Katlyn G McKay, Erin E Von Klein, Emily Morris, Kevin Johnson","doi":"10.1542/neo.27-1-087","DOIUrl":"10.1542/neo.27-1-087","url":null,"abstract":"","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"27 1","pages":"e39-e42"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12758622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145878795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
NeoReviewsPub Date : 2026-01-01DOI: 10.1542/neo.27-1-086
Neha Bhatnagar, Irene Roberts
{"title":"Hematological Conditions in Infants With Trisomy 21.","authors":"Neha Bhatnagar, Irene Roberts","doi":"10.1542/neo.27-1-086","DOIUrl":"10.1542/neo.27-1-086","url":null,"abstract":"<p><p>Virtually all neonates with Down syndrome (DS) have hematological abnormalities, including thrombocytopenia, polycythemia, and changes in the types and proportions of leukocytes. While many of these abnormalities are mild, they are important for neonatologists to be aware of, not only because some are life-threatening but also because they affect the interpretation of complete blood cell count results. The most serious hematological condition in neonates with DS is transient abnormal myelopoiesis (TAM), a neonatal leukemic syndrome unique to DS that is caused by mutations in the GATA1 transcription factor gene. In this review, we describe the spectrum of hematological conditions in neonates with DS and their implications, focusing primarily on TAM. We outline the approach to diagnosis and management of these conditions during the neonatal period and their significance for the health of these children in the short and long term. Lastly, we review the nonmalignant hematological abnormalities seen in neonates with DS, which are due to the effects of the extra 21 chromosome in the absence of GATA1 mutations.</p>","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"27 1","pages":"e25-e38"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145878744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
NeoReviewsPub Date : 2026-01-01DOI: 10.1542/neo.27-1-088
Ayhan Çeri, Musa Silahli
{"title":"An Unusual Surgical Presentation in a Newborn.","authors":"Ayhan Çeri, Musa Silahli","doi":"10.1542/neo.27-1-088","DOIUrl":"https://doi.org/10.1542/neo.27-1-088","url":null,"abstract":"","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"27 1","pages":"e43-e45"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145878750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
NeoReviewsPub Date : 2025-12-01DOI: 10.1542/neo.26-12-082
Keerthana Srinivasan, Christian Canarte, Samuel David Amio Valientes, Pedro A Sanchez-Lara, Seth J Langston
{"title":"Updates in Trisomy 18.","authors":"Keerthana Srinivasan, Christian Canarte, Samuel David Amio Valientes, Pedro A Sanchez-Lara, Seth J Langston","doi":"10.1542/neo.26-12-082","DOIUrl":"10.1542/neo.26-12-082","url":null,"abstract":"<p><p>Aneuploidies represent some of the most common genetic abnormalities within the pediatric population. Among them, trisomies 13, 18, and 21 constitute the most prevalent syndromes. Unlike trisomy 21, trisomies 13 and 18 have historically been regarded as having significant morbidity and mortality leading to being labeled \"lethal\" conditions. However, within the last few decades there is a growing body of evidence that the long-term outcomes of newborns specifically affected by trisomy 18 are exceeding these preconceived, historical notions. This shift results from increased postnatal intervention due to shared decision-making with families and medical teams. This review summarizes the clinical manifestations of trisomy 18 syndrome but also explores the updated long-term outcomes and subsequent guidance for future medical surveillance in a population of newborns previously expected to die before their first birthday.</p>","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"26 12","pages":"e820-e834"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145649032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
NeoReviewsPub Date : 2025-12-01DOI: 10.1542/neo.26-12-077
Zuleica M Rodriguez Hernandez, Erica Y Kim, Satyan Lakshminrusimha, Laura R Kair
{"title":"Visual Diagnoses: Swollen, Discolored Umbilical Cord Stump.","authors":"Zuleica M Rodriguez Hernandez, Erica Y Kim, Satyan Lakshminrusimha, Laura R Kair","doi":"10.1542/neo.26-12-077","DOIUrl":"https://doi.org/10.1542/neo.26-12-077","url":null,"abstract":"","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"26 12","pages":"e861-e864"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145649037","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
NeoReviewsPub Date : 2025-12-01DOI: 10.1542/neo.26-12-078
Sumaiya Mubarack, Brett C Young
{"title":"Cardiovascular Collapse in Pregnancy: Implications of Amniotic Fluid Embolism on Maternal and Neonatal Outcomes.","authors":"Sumaiya Mubarack, Brett C Young","doi":"10.1542/neo.26-12-078","DOIUrl":"https://doi.org/10.1542/neo.26-12-078","url":null,"abstract":"","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"26 12","pages":"e857-e860"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145648925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
NeoReviewsPub Date : 2025-12-01DOI: 10.1542/neo.26-12-083
Meriam J Avades, Artemiy Kokhanov
{"title":"Newborn Screening: Current State, Challenges, Limitations, and Future Directions.","authors":"Meriam J Avades, Artemiy Kokhanov","doi":"10.1542/neo.26-12-083","DOIUrl":"10.1542/neo.26-12-083","url":null,"abstract":"<p><p>In the early 1960s, the newborn screening (NBS) program in the United States began with testing for phenylketonuria. Since that time, the NBS program has greatly expanded the number of disorders tested in all newborns. This article reviews the importance of NBS from a public health perspective as well as in the clinical setting to detect, diagnose, and manage conditions early. Current practices vary across the United States as well as internationally. While there have been several advancements in NBS over the past several decades, multiple challenges and limitations remain. Some of these challenges include false-positive and false-negative results, the ethical dilemma of consent, and optimal timing of NBS in the neonatal intensive care unit. Future directions of NBS, both nationally and internationally, include the implementation of next-generation sequencing testing and artificial intelligence.</p>","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"26 12","pages":"e809-e819"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145649062","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Enzyme Replacement Therapy & Other Therapeutic Frontiers in Infantile Metabolic Disorders.","authors":"Hyo-Jung Choi, Achyuth Sriram, Carla Sargiotto, Viviana Fajardo-Martinez","doi":"10.1542/neo.26-12-081","DOIUrl":"10.1542/neo.26-12-081","url":null,"abstract":"<p><p>Inborn errors of metabolism are a heterogeneous group of genetic disorders caused by deficiencies in specific enzymes or proteins, leading to toxic substrate accumulation or deficient product formation. Enzyme replacement therapy (ERT) has emerged as a transformative treatment, particularly for lysosomal storage disorders such as infantile-onset Pompe disease. This review explores the evolution, clinical application, and emerging innovations in ERT, focusing on disorders that present during the neonatal and infantile period. Treatment of patients with Pompe disease illustrates the benefits and limitations of ERT. Early intravenous administration of recombinant acid alpha-glucosidase has dramatically improved survival and cardiac function in affected infants. However, challenges such as immunogenicity, limited central nervous system penetration, and variable skeletal muscle response persist. Novel approaches, such as in utero enzyme replacement therapy, show promise in enhancing outcomes through early intervention and immune tolerance induction. This review also examines ERT in other infantile disorders, outlining efficacy and limitations. Expanding therapeutic frontiers-including gene therapy, gene editing, substrate reduction therapy, and stem cell transplantation-are discussed as complementary or alternative strategies. Despite its success, ERT faces barriers including high cost, limited global access, and the need for ongoing surveillance of long-term outcomes. Addressing these challenges requires investment in research, expanded newborn screening, and equitable access to care. ERT continues to reshape the prognosis of several fatal pediatric metabolic disorders, offering hope for improved quality of life and survival through early and innovative interventions.</p>","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"26 12","pages":"e835-e846"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145648967","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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