NeoReviews最新文献

Sudden unexpected infant death (SUID) is the primary cause of post-neonatal mortality. SUID disproportionately affects preterm infants and infants admitted to the neonatal intensive care unit (NICU). NICU providers are charged with ensuring the implementation of safe sleep practices and caregiver education while balancing other acute medical needs. The persistent lack of improvement in sleep-related infant deaths and the release of updated recommendations from the American Academy of Pediatrics (AAP) have reinvigorated institutional and public health efforts to reduce SUID. In this review, we will discuss the nomenclature, epidemiology (including racial and ethnic disparities in SUID), and pathophysiology of sleep-related infant deaths. Finally, we will review the updated AAP recommendations on safe sleep and early transition to safe sleep in the NICU.

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.

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.

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.