KEY POINTS 1. Transport is not a benign event for the neonate, the family, and the transport team. 2. Transport is a significant transition in care and has risk and safety concerns beyond the physical movement of the neonate. 3.…
KEY POINTS 1. Preterm neonates are exposed to frequent painful and agitating stimuli during intensive care. Pain and agitation have a negative impact on long-term outcome. 2. Laboratory tests and invasive procedures should be used judiciously in neonates. 3. A…
KEY POINTS 1. Information technology (IT) can improve healthcare in its (1) efficiency in terms of economical achievement of goals, (2) effectiveness by improving the capacity to do so, and (3) efficacy with the capacity to achieve success under ideal,…
KEY POINTS 1. The admission of a premature or critically ill infant to a neonatal intensive care unit (NICU) is a stressful event for parents. 2. Parents in the NICU experience stress-induced emotional problems related to infant hospitalization, loss of…
KEY POINTS 1. Historically, neonatal intensive care units (NICUs) have been designed as open-bay units with multiple patient beds in a room. However, the trend has shifted toward designing units with single-patient or single-family rooms. 2. Single-family rooms have facilitated…
In Utero Stem Cell Transplantation In utero hematopoietic stem cell transplantation (IUHCT) is a promising approach to treat congenital genetic disorders. IUHCT offers multiple therapeutic advantages over postnatal bone marrow transplantation due in part to the fetal immune system’s ability…
Abbreviations aCGH Array comparative genomic hybridization AF Amniotic fluid CRISPR Clustered regularly interspaced short palindromic repeat CVS Chorionic villus sampling FISH Fluorescence in situ hybridization HDR Homology directed repair ICM Inner cell mass ICSI Intracytoplasmic sperm injection mtDNA Mitochondrial DNA…
Introduction Testing is available for an ever-increasing number of genetic disorders. Although prenatal testing originally focused primarily on Down syndrome, it is now possible to detect a broad range of genetic conditions. Prenatal diagnostic testing is most commonly performed on…
Introduction Current standards for prenatal genetic screening and testing are highly focused on detection of aneuploidies that are compatible with live birth, including trisomy 21, which affects 1:600 newborns overall and is associated with long-term survival, and the less common…
Introduction For more than half a century, classical cytogenetics was the standard of care in the diagnosis of developmental disabilities and congenital anomalies. More recently, the introduction of microarray technology into clinical medicine has allowed the identification of subchromosomal abnormalities…