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Immunology of the Fetus and Newborn

Key Points The fetus and newborn express a distinct and evolving immune system that mediates transition from intrauterine life to the microbe- and antigen-rich world. Multiple mechanisms including regulatory T cells help ensure maternofetal immune compatibility. Newborns are highly reliant on soluble and cellular innate immune mechanisms whose ontogeny depends on gestational and postnatal age. Adaptive immunity in newborns features distinct ontogeny and functionality of T…

Congenital Disorders of Glycosylation, Peroxisomal Disorders, and Smith-Lemli-Opitz Syndrome

Key Points The phenotypic spectrum of glycosylation disorders is broad and ranges from mild to severe and from single-organ system to multisystem disease; glycosylation defects should be considered in any unexplained clinical condition, but especially in multiorgan disease with neurologic involvement. Diagnosis of congenital disorders of glycosylation mainly relies on next-generation sequencing techniques. Treatment is largely supportive except for rare exceptions where nutritional supplements are effective.…

Lysosomal Storage Disorders Presenting in the Neonate

Key Points Lysosomal storage diseases are a genetically and phenotypically heterogeneous group of metabolic disorders caused by multisystemic accumulation of complex substrates. Clinical manifestations of lysosomal storage diseases in the neonatal period are myriad, including nonimmune hydrops fetalis, respiratory distress, sepsis, macular cherry-red spot, dysmorphic facial features, dysostosis multiplex, and hepatosplenomegaly. Newborn screening for certain lysosomal storage diseases such as mucopolysaccharidosis type I and Pompe disease…

Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism

Acute, life-threatening disease during the newborn period is a feature of many inborn errors of metabolism, including those of ammonia, carbohydrate, amino acid, fatty acid, ketone, and mitochondrial energy metabolism. Therefore, it is critical that neonatologists are familiar with the clinical symptoms, laboratory findings, methods of diagnosis, and empiric—as well as specific—management of each of these classes of disease ( Table 29.1 ). Importantly, newborn screening…

Chromosome Disorders

Key Points Early identification of an underlying genetic condition in a patient can aid in defining a treatment plan and help to identify resources for better care for patients and their families. In counseling the family of a newborn with a newly diagnosed chromosomal disorder, it is important to include the organ systems affected in the baby and the severity of each malformation when discussing prognosis.…

The Dysmorphic Infant

Key Points A genetic diagnosis can direct medical care (treatment, screening for other anomalies or issues that will arise in the future), provide information about prognosis, and give a recurrence risk to families. A genetics evaluation should be considered for a patient in the setting of multiple anatomic anomalies, known maternal exposure to a teratogen, a history of familial disorders, increased carrier frequency or ethnic risk,…

Prenatal Diagnosis and Counseling

Key Points All pregnant women should have the option to undergo prenatal screening/diagnosis for genetic conditions and/or birth defects. Specific indications for genetic counseling and prenatal diagnosis testing include a history of chromosome abnormality, Mendelian genetic disorder, or metabolic disorder; increased risk for neural tube defect; abnormal maternal serum screening test; abnormal cell free DNA result; or a fetal anomaly suspected/diagnosed on ultrasound. Successful prenatal diagnosis…

The Human Genome and Neonatal Care

Key Points Twenty percent of infant deaths in the United States and a larger portion of infant deaths in the NICU have been attributed to chromosomal and congenital anomalies, with the prevalence increasing with the expanded use of genetic diagnostic tools. Thousands of individuals have had their entire genomes or exomes sequenced and shared, along with corresponding phenotype information. This comprehensive, linked information enhances our ability…

Risk Assessment and Neurodevelopmental Outcomes

Key Points Preterm and critically ill infants are at high risk for cognitive and motor development problems, neurobehavioral and executive function problems, learning and academic problems, neurosensory problems, and poor functional outcomes. Neonatal morbidities, socioeconomic factors, and early interventions can influence long-term outcomes for high-risk infants. While neurodevelopmental impairment (NDI) at 2 years corrected age is a common outcome in neonatal clinical trials, there is ongoing…

Palliative Care

Key Points Palliative care is the total care of a patient with a life-limiting illness regardless of the disease trajectory or treatment options chosen. There is a special focus on pain/symptom management, communication, quality of life, family support, and grief support. Up to 3% of pregnancies are complicated by a life-limiting diagnosis. Roughly one-third of deaths in children's hospitals in the United States occur in neonatal…

Neonatal Pain and Stress

Key Points Pain and discomfort in infants are common occurrences in intensive care. Identification and management of neonatal pain remain challenging. Many neonatal pain scoring tools assist in classifying pain, but many were not validated in clinical practice. Neonatal pain recognition with near-infrared spectroscopy and amplitude-integrated electroencephalography does not always align with clinical manifestations of pain, raising questions about how best to define, diagnose, and treat…

Neonatal Pharmacology

Key Points The key feature of neonatal physiology is rapid maturation, resulting in extensive variability in pharmacokinetics and pharmacodynamics, further aggravated by other covariates, like pharmacogenetics or unique disease characteristics. Variability is the essence of neonatal care and neonatal pharmacology. Thorough understanding of these factors, especially developmental changes, that affect pharmacokinetics (absorption, distribution, metabolism, elimination) in neonates helps to provide accurate dose adjustments to assure effective…

Fluid, Electrolyte, and Acid-Base Balance

Key Points In the neonate, many pathologic states and/or their treatment are associated with disruptions in normal body fluid, electrolyte, and acid-base balance, which at times may in themselves become life-threatening. Conversely, many conditions may be negatively affected by disruptions of normal body fluid, electrolyte, and acid-base balance occurring independently of the condition itself. The maintenance of normal fluid, electrolyte, and acid-base balance is a cornerstone…

Neonatal Transport

Key Points Regionalization of neonatal critical care improves outcomes. Highly effective transport systems feature centralized and standardized communications, experienced medical oversight and skilled teams trained to care for sick neonates. Appropriate transport care depends on the training and competency of the transport teams. The care delivered should not decrease in sophistication during the transport process. The referring provider is responsible (per Emergency Medical Treatment and Active…

Newborn Screening

Key Points Newborn screening (NBS) provides an opportunity for early identification of newborns with disorders in which the clinical complications develop postnatally and may remain unrecognized prior to irreversible clinical damage. Since its inception nearly six decades ago, with screening for a single disorder, NBS has expanded substantially to more than 60 disorders in the current screening panels. NBS is a “screen,” and individuals should not…

Temperature Regulation

Key Points Providing an appropriate and stable thermal environment is important for newborns regardless of size or gestational age. Neutral thermal environment (NTE) refers to the ambient temperature necessary to maintain normal metabolism. Newborn (admission) hypothermia continues to be a global challenge, particularly in resource-limited settings. Radiant warmers, warm blankets, thermal mattresses, head covering, plastic wrap (without drying), delayed bathing, and skin-to-skin care have been recommended…

Care of the Newborn

Key Points Prenatal ultrasonography can diagnose multiple newborn conditions early. However, the natural history of many common ultrasound findings is variable, and the findings may or may not represent markers of serious disease. The short-term and long-term benefits of breastfeeding are clear. The effects on breastfeeding rates from interventions such as formula supplementation, frenotomy, and restriction of pacifiers remain controversial, as does breastfeeding among HIV-positive mothers.…

Perinatal Transition and Newborn Resuscitation

Key Points Preparation prior to delivery helps ensure timely and effective newborn resuscitation. Delayed umbilical cord clamping following delivery may have a significant impact on newborn outcomes. Establishing adequate ventilation is key to the perinatal transition. The laryngeal mask airway is an alternative to intubation in newborns at ≥34 weeks’ gestation and > 2000 g. Devices such as carbon dioxide detectors, pulse oximetry, electrocardiography, and respiratory…

Obstetric Analgesia and Anesthesia

Key Points Labor results in significant pain for many women that is individualized, dynamic, and unpredictable. Although the effects of obstetric analgesia and anesthesia on the fetus and neonate are typically benign, there is potential for adverse neonatal effects. During pregnancy, labor, and delivery, women undergo fundamental changes in anatomy and physiology that affect all organ systems, significantly alter pharmacokinetic and pharmacodynamics responses to many drugs…

Complicated Deliveries

Key Points Cesarean section occurs in approximately one-third of all births in the United States, with substantial variation among hospitals that cannot be entirely accounted for by preexisting maternal or fetal comorbidities. Multidisciplinary team training can reduce infant morbidity after shoulder dystocia. Operative vaginal birth with either forceps or vacuum has declined to a multi-decade low despite the low frequency of infant complications directly attributable to…