A Case Report of Donnai-Barrow Syndrome.

Background: A genetic disorder should be considered when an infant presents with multiple congenital anomalies. Because of the acute presentation of an infant with multiple life-threatening defects, a genetic diagnosis of a rare disorder took weeks to delineate.

Clinical Findings: This case describes a late preterm infant who presented at birth with congenital diaphragmatic hernia, tetralogy of Fallot, cleft lip, low-set ears, and hypertelorism.

Disseminated Intravascular Coagulation in the Neonate.

Disseminated intravascular coagulation (DIC) is a serious secondary disease that alters the events in the clotting cascade. DIC leads to microclots in the peripheral vasculature. The uncontrolled formation of these clots consumes the body's clotting factors, which precipitates bleeding.

Differential Diagnoses and Their Implications of Dandy-Walker Malformation or Isolated Cisterna Magna, a Case Study: Baby V.

We explore the outcome of a fetus with a posterior fossa abnormality thought to be a Dandy-Walker malformation based on prenatal ultrasound imaging. The infant was later diagnosed by magnetic resonance imaging (MRI) as having an isolated cisterna magna. When assessing brain abnormalities, there is increased accuracy of prenatal MRI versus prenatal ultrasound.

The Best Interests of Infants and Families During Palliative Care at the End of Life: A Review of the Literature.

Background: Palliative care is an integral element of care provision in neonatal intensive care units (NICUs). Healthcare providers working in NICUs are likely to provide palliative care at some point in their career.

Purpose: This article examines what neonatal palliative care entails, how parents perceive healthcare providers' actions, what they potentially need at the end of their infant's life, and what bereavement interventions are most supportive for parents.

Transitional Objects to Faciliate Grieving Following Perinatal Loss.

Background: Parents who experience a perinatal loss often leave the hospital with empty arms and no tangible mementos to validate the parenting experience. Opportunities to create parenting experiences with transitional objects exist following the infant's death.

Purpose: This article offers suggestions for staff in units where infant loss is possible to best assist parents in optimal grieving through the offering of transitional bereavement objects.

The Use of Whole Body Cooling in the Treatment of Hypoxic-Ischemic Encephalopathy.

Hypoxic-ischemic encephalopathy (HIE) is a major cause of morbidity and mortality in neonates. Hypoxic-ischemic encephalopathy occurs as a result of a perinatal hypoxic-ischemic event just prior to or during delivery. Therapeutic hypothermia using whole body cooling is the current treatment of choice to reduce brain injury and improve long-term neurodevelopmental outcomes for neonates with HIE.

Congenital Chylothorax: A Unique Presentation of Nonimmune Hydrops Fetalis in a Preterm Infant.

Background: Nonimmune hydrops fetalis secondary to congenital chylothorax (CC) is a rare disease process associated with high morbidity and mortality related to abnormal formation of the lymphatic system and disrupted management of fetal fluid. Hydrops fetalis is typically diagnosed prenatally by the presence of pleural effusions or other fluid collection on ultrasonography. Congenital chylothorax is diagnosed when the analysis of pleural fluid is deemed chylous.

Mosaic trisomy 9 hematopoietic chimera.

A 1.57-kg infant presented at a major medical center in the southeastern United States at 32 weeks of gestation with growth restriction and no major anomalies after an uncomplicated pregnancy. At 1 month of life, the infant was found to be chimeric for blood types O and A.

Sturge-Weber syndrome: a case study.

Sturge-Weber syndrome (SWS) is a rare, congenital neurocutaneous condition (affecting both the skin and the brain) characterized by a facial port-wine stain located specifically on the ophthalmic branch of the trigeminal nerve, cerebral vascular abnormalities, and potential eye involvement. The incidence of SWS is approximately 1 in 20,000 to 50,000 infants, and therefore all clinical presentations are important to discuss. This article describes a case presentation of SWS and then discusses the etiology, pathophysiology, management, diagnosis, and prognosis of SWS.

Use of benzodiazepines as anxiolytics in neonates: are we there yet?

Few controlled trials exist to demonstrate the efficacy and the risks of pharmacologic agents used in treating pediatric, and more specifically neonatal patients. It is not different for the central nervous system altering class of drugs, benzodiazepines (BZDs). Little information is known about the long-term effects of BZDs use in neonates as anxiolytics and sedatives causing trepidation with their use in the clinical setting.

Fungal prophylaxis in neonates: a review article.

Fungemia is a serious problem within neonatal intensive care units around the world. Premature infants are at high risk for this complication, which is often fatal. Prophylaxis for invasive fungal infection has been practiced worldwide in different settings and with various patient groups.

Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy.

Jeune syndrome (JS), or asphyxiating thoracic dystrophy, is a rare genetic disorder characterized by a small, narrow thorax, with associated shortening of limbs. Children with JS present with variable degrees of respiratory distress, frequently lethal in the neonatal period. Other associated complications include renal, hepatic, gastrointestinal, and retinal dysfunction.

Heart for bonding: a new protocol of care for hypoplastic left heart syndrome.

There are significant challenges involved in the perinatal and postnatal care of an infant with hypoplastic left heart syndrome (HLHS) and the infant's family. In the blink of an eye, the perfect child is lost, and a fragile infant is about to join the family. This case study and discussion is an overview of HLHS , a family's desire to make the birth of their infant normal, and how that desire initiated a change in philosophy and practice in our neonatal intensive care unit.

Sixty golden minutes.

The golden hour concept started in the trauma setting but is becoming more familiar in the neonatal intensive care unit (NICU). For a premature baby, the first hour of life can make the difference between a good outcome, a poor outcome, and death. The golden hour is 60 minutes of team-oriented and task-driven protocols.

Efficacy of inhaled nitric oxide in preterm neonates.

Over the past 20 years, the recognition of nitric oxide (NO) as an endothelial-derived vasodilator has led to remarkable advances in vascular biology awareness. The signaling molecule NO, produced by NO synthase, is a molecule that is widespread in the body and important in multiple organ systems. Soon after its discovery, investigators found NO to be a potent pulmonary vasodilator in term neonates.

Congenital central hypoventilation syndrome and the PHOX2B gene mutation.

Congenital central hypoventilation syndrome (CCHS) is a rare syndrome of dysfunction of the autonomic nervous system characterized by a decreased response to hypercarbia. It is a disorder in which affected individuals fail to breathe during sleep despite progressive hypercapnia and hypoxia. Infants simply fall asleep and quit breathing.

Neonatal tuberculosis: neonatal intensive care unit considerations in the United States.

According to the World Health Organization, more than 2 billion people, equal to one third of the world's population, are infected with Mycobacterium tuberculosis (TB) bacilli, the microbes that cause TB. In addition, over the past decade, the incidence of postnatal TB in infants has shown an escalating trend in response to the global increase in TB. In providing the best possible care for infants in newborn nurseries and NICU, providers must recognize the trends of TB and multidrug resistant TB in infants globally and consider the possible effects on health care in the United States.

Wolff-Parkinson-White syndrome in infants.

Wolff-Parkinson-White (WPW) syndrome is a ventricular preexcitation that presents as supraventricular tachycardia. Health care professionals can attain optimal results in caring for infants with WPW syndrome by understanding both its pathophysiology and proper management to prevent and treat complications associated with it. This article reviews the prevalence, pathophysiology, clinical manifestations, diagnostic modalities, assessment, and management of WPW syndrome.

Recognition and management of the infant with Beckwith-Wiedemann Syndrome.

Beckwith-Wiedemann Syndrome (BWS) is the most common overgrowth syndrome in infancy. The characteristic findings are macroglossia, abdominal wall defects, and macrosomia. Genetic studies in infants with BWS demonstrate 3 major subgroups of patients: familial, sporadic, or chromosomally abnormal.

Hemophagocytic lymphohistiocytosis in the premature neonate.

Hemophagocytic lymphohistiocytosis (HLH), a rare disease, results in pathological findings secondary to an abnormal proliferation of activated lymphocytes and histiocytes (tissue macrophages) and is lethal unless identified and adequately treated. Clinical features of HLH include fever, hepatosplenomegaly, cytopenias, hypertriglyceridemia, hypofibrinogenemia, elevated blood levels of ferritin, lymphadenopathy, skin rash, jaundice, and edema. Often, the symptoms of HLH are misinterpreted as infection, resulting in inadequate treatment and death.

Necrotizing enterocolitis: etiology, presentation, management, and outcomes.

Necrotizing enterocolitis is one of the most common gastrointestinal disease processes affecting infants in the neonatal intensive care unit. Its morbidity and mortality are substantial. This devastating and challenging process results in immediate and long-term morbidities for the affected infant and frustrates the clinician who struggles to prevent the process, recognize it when it does develop, and provide management techniques to enhance the outcome.

Transient myeloproliferative disorder in a newborn with Down syndrome.

This is the report of a newborn with Down syndrome diagnosed with transient myeloproliferative disorder (TMD) that required chemotherapy on the first day of life. Children with Down syndrome have a 10- to 20-fold increased risk of developing TMD. TMD is characterized by an uncontrolled proliferation of myeloblasts in the infant's peripheral blood and bone marrow.

Nurses' guide to early detection of umbilical arterial catheter complications in infants.

Umbilical arterial catheters (UAC) are routinely used in the care of critically ill newborns. Complications related to UACs include vascular compromise, hemorrhage, complications related to malposition, severance of the catheter itself, and infection. This article is Part II in a series dedicated to assessing infants with an umbilical catheter.

A nurse's guide to early detection of umbilical venous catheter complications in infants.

The use of umbilical catheters in the care of critically ill neonates has become standard practice. Both arterial and venous umbilical catheters are a vital component of care, providing a stable route for fluid and medication administration, vascular pressure monitoring, and frequent blood sampling. Although commonplace, umbilical catheters are not without complications.

The use of nitric oxide in neonatal care.

Knowledge of NO and its role in the human body currently is limited. Further scientific research involving this unique molecule will expand its clinical usefulness. It is an exciting era in research,involving numerous body processes and systems.