Ritu Chitkara, Valerie Chock, Richard Barth, Hisham Dahmoush, Carly Smith, Dena R Matalon, Melissa Herring, Susan Hintz
{"title":"Pallister-Killian Syndrome.","authors":"Ritu Chitkara, Valerie Chock, Richard Barth, Hisham Dahmoush, Carly Smith, Dena R Matalon, Melissa Herring, Susan Hintz","doi":"10.1542/neo.25-11-e751","DOIUrl":"https://doi.org/10.1542/neo.25-11-e751","url":null,"abstract":"","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"25 11","pages":"e751-e756"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142558343","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}
L Elizabeth Ricker, Matthew Saxonhouse, Lauren Carter
{"title":"Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis.","authors":"L Elizabeth Ricker, Matthew Saxonhouse, Lauren Carter","doi":"10.1542/neo.25-11-e747","DOIUrl":"https://doi.org/10.1542/neo.25-11-e747","url":null,"abstract":"","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"25 11","pages":"e747-e750"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142558347","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}
Blood group or red cell alloimmunization occurs when a pregnant patient has produced antibodies to a blood group antigen possessed by the fetus and not possessed by the pregnant patient. Maternal antibodies are usually produced as an immune response to fetal-maternal bleeding or blood product transfusion. Prevention remains the most important strategy to avoid the formation of maternal antibodies or alloimmunization. Maternal alloimmunization may result in transplacental passage of these antibodies into the fetal circulation and the potential for fetal or neonatal hemolysis and anemia. Red cell alloimmunization can result in significant perinatal morbidity and mortality. Management of alloimmunization in pregnant patients should be protocol-driven. Current strategies for assessment and therapies allow for more thorough and less invasive management with risks to mother and fetus.
{"title":"Alloimmunization in Pregnancy: Implications for the Fetus and Neonate.","authors":"Scott N MacGregor","doi":"10.1542/neo.25-11-e742","DOIUrl":"https://doi.org/10.1542/neo.25-11-e742","url":null,"abstract":"<p><p>Blood group or red cell alloimmunization occurs when a pregnant patient has produced antibodies to a blood group antigen possessed by the fetus and not possessed by the pregnant patient. Maternal antibodies are usually produced as an immune response to fetal-maternal bleeding or blood product transfusion. Prevention remains the most important strategy to avoid the formation of maternal antibodies or alloimmunization. Maternal alloimmunization may result in transplacental passage of these antibodies into the fetal circulation and the potential for fetal or neonatal hemolysis and anemia. Red cell alloimmunization can result in significant perinatal morbidity and mortality. Management of alloimmunization in pregnant patients should be protocol-driven. Current strategies for assessment and therapies allow for more thorough and less invasive management with risks to mother and fetus.</p>","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"25 11","pages":"e742-e746"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142558340","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}
Hemoglobinopathies in neonates constitute a group of disorders influenced by genetic mutations in the human globin genes. They are often broadly categorized into quantitative defects or qualitative defects, though they are not mutually exclusive. In quantitative defects, the mutation causes insufficient production of a normal globin chain, which can range from no production to mild deficiency. These are typically referred to as thalassemias. In qualitative defects, the structure of the hemoglobin is altered. The most common structural hemoglobinopathy is sickle cell disease. During fetal development, distinct globin chains are synthesized, which undergo a progressive switch to adult globin chains perinatally. This affects the timing of the clinical presentation of these disorders and thus, our ability to diagnose them. In this review, we focus on the epidemiology, genetic causes, clinical presentation, and general overview and management of common hemoglobin disorders that may be encountered in the neonatal period.
{"title":"Hemoglobinopathies in the Neonate.","authors":"Katrina Blankenhorn, Kaitlin Strumph","doi":"10.1542/neo.25-11-e720","DOIUrl":"https://doi.org/10.1542/neo.25-11-e720","url":null,"abstract":"<p><p>Hemoglobinopathies in neonates constitute a group of disorders influenced by genetic mutations in the human globin genes. They are often broadly categorized into quantitative defects or qualitative defects, though they are not mutually exclusive. In quantitative defects, the mutation causes insufficient production of a normal globin chain, which can range from no production to mild deficiency. These are typically referred to as thalassemias. In qualitative defects, the structure of the hemoglobin is altered. The most common structural hemoglobinopathy is sickle cell disease. During fetal development, distinct globin chains are synthesized, which undergo a progressive switch to adult globin chains perinatally. This affects the timing of the clinical presentation of these disorders and thus, our ability to diagnose them. In this review, we focus on the epidemiology, genetic causes, clinical presentation, and general overview and management of common hemoglobin disorders that may be encountered in the neonatal period.</p>","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"25 11","pages":"e720-e728"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142558342","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}
Infants admitted to NICUs in children's hospitals represent a different population than those in a traditional birth hospital. The patients in a children's hospital NICU often have the most complex neonatal diagnoses and are cared for by various subspecialists. The Children's Hospitals Neonatal Consortium is a collaborative of more than 40 NICUs that collect data and perform quality improvement (QI) work across the United States and Canada. The collaborative's database provides an opportunity to benchmark clinical outcomes for this specialized population and to support the QI efforts. In this review, we summarize the success of individual collaborative QI projects focused on improving the care of the neonate in the perioperative period related to clinical team handoffs, postoperative hypothermia prevention, and improvement of postoperative pain management. The collaborative's experience can serve as a model for other national collaboratives seeking to support QI efforts.
{"title":"Perioperative Quality Improvement in Children's Hospitals Neonatal Consortium NICUs.","authors":"Thomas Bartman, Priscilla Joe, Laurel Moyer","doi":"10.1542/neo.25-10-e601","DOIUrl":"https://doi.org/10.1542/neo.25-10-e601","url":null,"abstract":"<p><p>Infants admitted to NICUs in children's hospitals represent a different population than those in a traditional birth hospital. The patients in a children's hospital NICU often have the most complex neonatal diagnoses and are cared for by various subspecialists. The Children's Hospitals Neonatal Consortium is a collaborative of more than 40 NICUs that collect data and perform quality improvement (QI) work across the United States and Canada. The collaborative's database provides an opportunity to benchmark clinical outcomes for this specialized population and to support the QI efforts. In this review, we summarize the success of individual collaborative QI projects focused on improving the care of the neonate in the perioperative period related to clinical team handoffs, postoperative hypothermia prevention, and improvement of postoperative pain management. The collaborative's experience can serve as a model for other national collaboratives seeking to support QI efforts.</p>","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"25 10","pages":"e601-e611"},"PeriodicalIF":0.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142351113","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}
K Taylor Wild, Anne M Ades, Holly L Hedrick, Lauren Heimall, Julie S Moldenhauer, Olivia Nelson, Elizabeth E Foglia, Natalie E Rintoul
Delivery room resuscitation of infants with surgical conditions can be complex and depends on an experienced and cohesive multidisciplinary team whose performance is more important than that of any individual team member. Existing resuscitation algorithms were not developed for infants with congenital anomalies, and delivery room resuscitation is largely dictated by expert opinion extrapolating physiologic expectations from infants without anomalies. As prenatal diagnosis rates improve, there is an increased ability to plan for the unique delivery room needs of infants with surgical conditions. In this review, we share expert opinion, including our center's delivery room management for neonatal noncardiac surgical conditions, and highlight knowledge gaps and the need for further studies and evidence-based practice to be incorporated into the delivery room care of infants with surgical conditions. Future research in this area is essential to move from an expert-based approach to a data-driven approach to improve and individualize delivery room resuscitation of infants with surgical conditions.
{"title":"Delivery Room Management of Infants with Surgical Conditions.","authors":"K Taylor Wild, Anne M Ades, Holly L Hedrick, Lauren Heimall, Julie S Moldenhauer, Olivia Nelson, Elizabeth E Foglia, Natalie E Rintoul","doi":"10.1542/neo.25-10-e612","DOIUrl":"https://doi.org/10.1542/neo.25-10-e612","url":null,"abstract":"<p><p>Delivery room resuscitation of infants with surgical conditions can be complex and depends on an experienced and cohesive multidisciplinary team whose performance is more important than that of any individual team member. Existing resuscitation algorithms were not developed for infants with congenital anomalies, and delivery room resuscitation is largely dictated by expert opinion extrapolating physiologic expectations from infants without anomalies. As prenatal diagnosis rates improve, there is an increased ability to plan for the unique delivery room needs of infants with surgical conditions. In this review, we share expert opinion, including our center's delivery room management for neonatal noncardiac surgical conditions, and highlight knowledge gaps and the need for further studies and evidence-based practice to be incorporated into the delivery room care of infants with surgical conditions. Future research in this area is essential to move from an expert-based approach to a data-driven approach to improve and individualize delivery room resuscitation of infants with surgical conditions.</p>","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"25 10","pages":"e612-e633"},"PeriodicalIF":0.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142351111","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}
Stephanie L Bourque, Karna Murthy, Theresa R Grover, Loren Berman, Stefanie Riddle
The Children's Hospitals Neonatal Consortium (CHNC), established in 2010, seeks to improve care for infants with medically and surgically complex conditions who are cared for in level IV regional children's hospital NICUs across North America. Through patient-level individual data collection, comparative benchmarking, and multicenter quality improvement work, CHNC has contributed to knowledge and improved outcomes, leveraging novel collaborations between and across institutions. Focusing on antenatal and inpatient care for infants with surgical conditions including congenital diaphragmatic hernia, gastroschisis, and necrotizing enterocolitis, we summarize the progress made in these infants' care. We highlight the ways in which CHNC has enabled multidisciplinary and multicenter collaborations through the facilitation of diagnosis-specific focus groups, which enable comparative observations of outcomes through quality improvement and research initiatives. Finally, we review the importance of postbirth hospitalization needs of these infants and the application of telemedicine in this population.
儿童医院新生儿联盟(CHNC)成立于 2010 年,旨在改善北美地区 IV 级地区儿童医院新生儿重症监护室对患有复杂内外科疾病的婴儿的护理。通过患者层面的个人数据收集、比较基准和多中心质量改进工作,CHNC 利用机构之间的新型合作,为知识的积累和成果的改善做出了贡献。我们以患有先天性膈疝、胃裂和坏死性小肠结肠炎等外科疾病的婴儿的产前和住院护理为重点,总结了这些婴儿的护理进展。我们重点介绍了 CHNC 通过促进特定诊断焦点小组来促成多学科和多中心合作的方式,这些焦点小组可以通过质量改进和研究计划对结果进行比较观察。最后,我们回顾了这些婴儿出生后住院需求的重要性以及远程医疗在这一人群中的应用。
{"title":"Cutting into the NICU: Improvements in Outcomes for Neonates with Surgical Conditions.","authors":"Stephanie L Bourque, Karna Murthy, Theresa R Grover, Loren Berman, Stefanie Riddle","doi":"10.1542/neo.25-10-e634","DOIUrl":"https://doi.org/10.1542/neo.25-10-e634","url":null,"abstract":"<p><p>The Children's Hospitals Neonatal Consortium (CHNC), established in 2010, seeks to improve care for infants with medically and surgically complex conditions who are cared for in level IV regional children's hospital NICUs across North America. Through patient-level individual data collection, comparative benchmarking, and multicenter quality improvement work, CHNC has contributed to knowledge and improved outcomes, leveraging novel collaborations between and across institutions. Focusing on antenatal and inpatient care for infants with surgical conditions including congenital diaphragmatic hernia, gastroschisis, and necrotizing enterocolitis, we summarize the progress made in these infants' care. We highlight the ways in which CHNC has enabled multidisciplinary and multicenter collaborations through the facilitation of diagnosis-specific focus groups, which enable comparative observations of outcomes through quality improvement and research initiatives. Finally, we review the importance of postbirth hospitalization needs of these infants and the application of telemedicine in this population.</p>","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"25 10","pages":"e634-e647"},"PeriodicalIF":0.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142351110","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}