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Basic Embryology

Acknowledgments We thank Dr. Stanley Kaplan for his valuable contributions to the previous edition of this chapter. Introduction The human embryo begins as a single large cell, approximately 0.1 mm in diameter, just visible to the unaided eye. During the 266 days of gestation after fertilization, this cell increases in size, weight, and surface area in a rapid and markedly nonlinear fashion. From newly fertilized egg…

Epigenetics

Principles of Epigenetics Introduction to Epigenetics The publication of the majority of the human genome sequence in 2001 , was the precursor to many important discoveries. However, the human genome sequence has not provided researchers with the codex to fully understand the genome’s functionality or to predict its response to environmental cues (such as nutritional challenges). One reason why this is the case is that the…

Basic Genetic Principles

Introduction The human genome refers to the complete set of human DNA (with the suffix -ome arising from the Greek for “all” or “complete”). A copy of our genome comprises approximately 3 billion base pairs (bp) and about 20,000 protein-coding genes. The Human Genome Project was a significant contribution toward understanding the organization, structure, and sequence of the human genome. , With these developments, genomic medicine…

Schedule for Immunization of Preterm Infants

Keywords immunizations hepatitis B vaccine All Preterm Infants Vaccine doses should not be reduced for preterm infants. Use thimerosal-free vaccines. Intramuscular injections to preterm infants might require a shorter needle than the standard 5/8 to 1” needle. Immunizations may be given during corticosteroid administration. Palivizumab (synagis) should be given according to the respiratory syncytial virus policy. Preterm infants should receive a full dose of diphtheria and…

Tables of Normal Values

Physiologic Parameters Blood Pressure TABLE B.1 Blood Pressure Values in Neonatal Period after Two Weeks of Age, by Gestational Age Modified from Nickavar A and Assadi F. Managing hypertension in newborn infants. Int J Prev Med . 2014;5(Suppl 1):S39-S43. Gestational Age (weeks) Blood Pressure (mm Hg) Percentile Systolic Diastolic Mean 26-28 50th 55-60 30-38 38-45 95th 72-75 50-50 57-58 99th 77-80 54-56 63-63 30-32 50th 65-68…

Congenital Abnormalities of the Upper and Lower Extremities and Spine

Upper Extremities Congenital abnormalities of the upper extremities are those that occur during the embryonic period. Developmental deformities are those that occur primarily in the fetal or neonatal period. Because a developmental deformity may have a prenatal association, such as in utero positioning, it could be misinterpreted as a congenital abnormality. Congenital and developmental disorders of the upper extremities are less common than those affecting the…

Bone and Joint Infections in Neonates

Bacterial infections of the neonatal skeletal system are potentially disabling because of damage to the articular cartilage and epiphysis. Prompt diagnosis and treatment are imperative to prevent sequelae. Unfortunately, neonates with skeletal infections do not usually have the classic symptoms or laboratory findings of sepsis early on because of their immature immune systems. Feeding intolerance, reduced movement, and/or irritability may be the only early signs of…

Musculoskeletal Disorders in Neonates

Musculoskeletal abnormalities of the extremities, spine, and pelvis are common in the neonate. Some are pathologic and others physiologic in origin from normal in utero positioning. The congenital absence of all or part of a limb, deformities of the feet or hands, and abnormalities of the spine are rarely diagnostic problems, whereas others, such as developmental dysplasia of the hip (DDH), may escape diagnosis even after…

Retinopathy of Prematurity

Introduction Retinopathy of prematurity (ROP) was first described ~70 years ago as retrolental fibroplasia . The introduction of closed incubators with the use of high levels of supplemental oxygen caused inhibition of the growth of retinal vessels in premature infants, followed by vasoproliferation and traction eventually resulting in a complete retinal detachment behind the lens. Supplemental oxygen increased the risk of blindness but also improved survival.…

Examination and Common Problems in the Neonatal Eye

“The eye is the light of the body; therefore, if the eye is good, then the whole body will be full of light, but if the eye is bad, then the whole body will be full of darkness.” Clinicians should develop the ability to recognize the signs and symptoms of serious eye diseases or complications of diseases early in their course to prevent visual loss and,…

The Skin of the Neonate

This chapter provides an overview of the principles of newborn skin care followed by a summary of the many diseases of the newborn presenting with primary or secondary cutaneous manifestations. A basic understanding of the structural development of the skin as well as the multiple functions subserved by the skin during transition to extrauterine life will be highlighted. The caregiver will be able to distinguish benign…

The Kidney and Urinary Tract of the Neonate

In the past 25 years, the field of clinical neonatal nephrology has expanded significantly in concert with major advances and changes in the care and survival of neonates, particularly premature neonates. The widespread use of invasive vascular catheters, for example, has resulted in a new set of complications, including acute kidney injury (AKI) and renovascular hypertension related to thromboembolic disease. The improved survival of infants with…

Fluid, Electrolytes, and Acid-Base Homeostasis

Fluid and electrolyte and acid–base management are essential components in the care of neonates who are considered high risk. This is particularly true for infants with very low birth weight (VLBW) for several reasons. Premature neonates typically require parenteral fluids, the quantity and composition of which can be highly variable. They also have important developmental limitations in renal homeostatic mechanisms. Finally, immature infants may be particularly…

Neonatal Jaundice and Liver Diseases

Bilirubin is one of three biologically active end-products of heme catabolism. Its clinical significance in the neonate relates to its propensity for deposition in the skin and mucous membranes, producing easily identifiable jaundice (French jaune , yellow) or icterus (Greek ikteros ). The yellow color, or the serum (or plasma) total bilirubin (TB) concentration at any point in time, represents the combined processes of bilirubin production…

Inborn Errors of Metabolism

The main problems facing the physician caring for a sick newborn infant are to know when to consider the possibility of a metabolic disorder, what to do to determine quickly and efficiently whether a child has a metabolic disease, and how to treat the patient until a diagnosis is established. A listing of strategic clinical and laboratory findings characteristic of inborn errors of metabolism are presented.…

Disorders of Sex Development

Genetic sex is determined at the time of fertilization, but carrying out the steps of sexual differentiation takes place over 14 weeks of embryonic and fetal development. An error in this process may result in a disorder of sex development (DSD), defined as a discrepancy in the genetic, gonadal, or genital makeup of an individual. This chapter reviews normal fetal sexual differentiation; the approaches to the…

Thyroid Disorders in the Neonate

Thyroid hormone is critical for linear growth and maturation of thyroid-dependent tissues, including the brain. Many physiologic factors influence fetal and neonatal thyroid function, including fetal–maternal relationships and the dynamic alteration of thyroid function with birth. Understanding the action of thyroid hormones, the synthesis and transport of these hormones, and mechanisms regulating thyroid function is also important in the evaluation and management of thyroid disorders. This…

Disorders of Calcium, Phosphorus, and Magnesium Metabolism in the Neonate

Approximately 98% of the calcium, 80% of the phosphorus, and 65% of the magnesium in the body are in the skeleton; these elements, often referred to as the “bone minerals,” are also constituents of the intracellular and extracellular spaces. The metabolism of these bone minerals and mineralization of the skeleton are complex functions that require the interaction of various parameters. These include an adequate supply of…

Disorders of Carbohydrate Metabolism in the Neonate

The fetus depends entirely on the mother for its nutritional needs, of which glucose is the principal energy substrate that fuels fetal growth and metabolism. At birth, when the maternal supply is discontinued, the neonate must adjust to an independent existence. This transition to the extrauterine environment is often perturbed by alterations in the mother's metabolism or by intrinsic fetal and placental problems that result in…