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Evaluating and Improving the Quality and Safety of Neonatal Intensive Care

Systematic evaluation of the quality, safety, and efficiency of clinical care has become an integral part of medical practice. Physicians, hospitals, and large health care organizations are under increasing pressure to monitor, report on, and continuously improve their services. Public release of hospital performance data is becoming increasingly common. In this new era, health professionals in neonatology must learn how to evaluate themselves and learn how…

Legal Issues in Neonatal-Perinatal Medicine

Clinicians, especially clinicians working in the intensive care unit environment, are accustomed to a modicum of predictability. Treatment plans are generally based on years of clinical experience coupled with robust dialogue with one's colleagues. How should physicians react to the $21 million “wrongful birth” verdict against a geneticist who missed the diagnosis of Smith-Lemli-Opitz syndrome? How does one prepare for the resuscitation of a 23-week-gestation infant…

Medical Ethics in Neonatal Care

This chapter explores the complexity of moral problem solving in neonatal medicine. First, principles of medical ethics and key terms and concepts are defined, followed by the application of these concepts in specific moral problems that arise (1) when a pregnant patient refuses treatment, (2) in the prenatal consultation at the limits of gestational viability, and (3) when withholding and withdrawing life-sustaining medical treatment in the…

Epidemiology for Neonatologists

Introduction Epidemiology is the study of health and disease and the associated causes. The role of epidemiology in neonatal-perinatal medicine is to define the prevalence and causes of illness in women and children by exploring risk factors and their associations. Specifically, maternal and infant mortality rates are used to assess the levels of health, access to needed health care, and quality of health care provided by…

Growth of Neonatal Perinatal Medicine—A Historical Perspective

The terms neonatology and neonatologist were not in general use until the mid-1960s. In the preface to the first edition of his monograph Diseases of the Newborn , Dr. Alexander Schaffer christened the new specialty and its practitioners, asking our “forgiveness” for doing so. An apology was not needed, because time has proven him to be immensely prophetic. In 1975, the first neonatal-perinatal medicine subspecialty examination…

Ear and Hearing Disorders

Key Points Hearing loss is one of the most common congenital abnormalities, occurring in approximately 1.5 to 2 per 1000 newborns. Hearing loss may be present at birth or have delayed onset. A comprehensive work-up is indicated to identify if the etiology is related to genetic or nongenetic causes, or associated with other abnormalities. Early diagnosis, intervention, and access to language within the first 6 months…

Eye and Vision Disorders

Key Points Early visual experience drives the architecture of the visual brain. Screening eye examinations are important in all infants, regardless of gestational age. All neonates should have an examination of the red reflex before discharge from the newborn nursery. The absence of visual responsiveness by 2 months of age should prompt an urgent ophthalmologic evaluation. Most full-term infants establish normal ocular alignment within the first…

Vascular Anomalies and Other Cutaneous Congenital Defects

Key Points Infantile hemangiomas (IHs) are the most common soft tissue tumor of infancy, with a reported incidence of 4% to 5% in mature newborns and up to 23% in extremely preterm infants. There is often parental concern regarding the risk of hemorrhage in IHs, but serious bleeding rarely occurs, and there is not a risk of coagulopathy or Kasabach-Merritt phenomenon. Propranolol is a nonselective beta…

Common Newborn Dermatoses

Key Points Papulopustular lesions on the palms and/or soles in the first month of life likely represent a self-limited inflammatory process such as eosinophilic pustular folliculitis or infantile acropustulosis—but scabies should be ruled out. Neonatal acne (a.k.a. cephalic pustulosis ) is typically multifactorial and self-limited. Treatment is not necessary, but topical agents aimed at reduction of the commensal yeast Malassezia can be beneficial. Evidence suggests that…

Infections of the Skin

Key Points Owing to their cutaneous, immunologic, and renal immaturity, newborns (especially premature neonates) are at increased risk of skin infection. As a group of potentially life-threatening but often treatable diseases, infections must always be considered in a newborn with skin lesions. Prompt diagnosis and initiation of therapy are crucial to prevent devastating long-term sequelae, particularly in instances of disseminated disease. Staphylococcus aureus , Streptococcus species,…

Congenital and Hereditary Disorders of the Skin

Key Points Genodermatoses are a broad spectrum of heritable disorders that affect the skin and may or may not affect other organ systems. Many, but not all, genodermatoses present with cutaneous and sometimes systemic findings in the neonatal period. Classification and nomenclature of these disorders is evolving as we learn more about the genetic basis and pathogenesis of these conditions. Newborns with signs of genetic skin…

Newborn Skin Development: Structure and Function

Key Points Healthy full-term infant skin is well developed and serves as an effective barrier. Premature infants, especially those of very low birth weight, have an ineffective barrier that increases the risk of invasive infection, dehydration, cutaneous injury, and toxic absorption. Birthmarks may have neurologic implications that require magnetic resonance imaging. In some cases, newborns and very young infants can be imaged using a “feed and…

Skeletal Dysplasias and Heritable Connective Tissue Disorders

Key Points Many skeletal dysplasias, as well as many connective tissue disorders, look similar in the newborn period, especially in premature infants. Arriving at the most accurate diagnosis possible is essential to proper medical decision-making and counseling the family. Utilizing all resources available (medical consultants, texts, online resources, and molecular diagnostics) contributes to this process. With respect to molecular diagnostics, (1) it is not essential in…

Common Neonatal Orthopedic Conditions

Key Points Developmental dysplasia of the hip represents a spectrum of diseases. All infants should be screened by physical examination; selective imaging based on risk factors is recommended. Most cases of congenital muscular torticollis resolve spontaneously. Physical therapy and surgery are reserved for recalcitrant cases. A variety of foot deformities are common and can be encountered in the neonate. Stretching, casting, or surgery may be required…

Craniofacial Conditions

Key Points Craniofacial malformations can impact swallowing, breathing, hearing, vision, speech, and development and for some neonates can result in life-threatening airway compromise. Early recognition and assessment of craniofacial conditions that include appropriate diagnostic studies, identification of associated health concerns, and family education can have a positive impact on the care and outcome of affected newborns. Timely referral to or consultation with a multidisciplinary craniofacial team…

Neonatal Hypoglycemia and Hyperglycemia

Key Points Neonatal hypoglycemia requires diagnostic consideration and urgent management to prevent recurrent hypoglycemia and avoid neurologic injury. Neonatal metabolism in the first days of life reflects a transition from the passive glucose consumption of the fetus to the active regulation of glucose of the neonate. Diagnosing the cause of hypoglycemia requires an evaluation of the hormonal and metabolic response to hypoglycemia. Patients with hyperinsulinemic hypoglycemia…

Disorders of the Thyroid Gland

Key Points Appropriate thyroid hormone function is essential for normal neurodevelopment in infancy and childhood. Hypothyroidism in the first year of life can result in significant deleterious effects on growth and neurologic injury. Delays in treating congenital hypothyroidism (CH) is the most common preventable cause of intellectual disability. Neonatal screening can provide early diagnosis and can prevent delays in treatment. Newborn screening methods differ and may…

Differences in Sex Development

Key Points Differences in sex development (DSD) are due to a variety of etiologies, requiring expertise of the pediatric endocrinologist, pediatric urologist, geneticist, and child psychologist, as well as the adolescent gynecologist, cytogeneticist, radiologist, and ethicist in some cases, to aid in the diagnosis, treatment, and optimization of long-term outcomes. Understanding normal sex development in males and females is critical to determining the cause of DSD.…

Disorders of the Adrenal Gland

Key Points Infants born with ambiguous genitalia or nonpalpable testes need to be evaluated for congenital adrenal hyperplasia as it can be life threatening. Adrenal steroid levels vary with gestational age. Adrenal insufficiency should be treated with hydrocortisone to avoid adrenal crisis. High doses of hydrocortisone contain mineralocorticoid activity. The Adrenal Gland Embryology Normal adrenal function is critically important for maintenance of intrauterine homeostasis, promotion of…