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Developmental Origins of Adult Health and Disease

Fetal Origins of Adult Disease Concept The concept of fetal origins of adult disease popularized by Barker arose from a robust association between small size at birth and the risk of chronic adult diseases, such as coronary artery disease, hypertension, stroke, type 2 diabetes mellitus, and osteoporosis. These original epidemiologic observations have been extensively replicated by multiple groups in varying populations of different ethnicities employing birth…

Intrauterine Growth Restriction

Summary Intrauterine growth restriction (IUGR) broadly encompasses pregnancies complicated by poor fetal growth, where the fetus's growth is less than its genetic potential. IUGR is an important condition to recognize, as it is a common complication of pregnancy that has both short- and long-term sequelae for offspring. This is a particularly difficult diagnosis to manage in both the prenatal and postnatal periods for a number of…

Adverse Exposures to the Fetus and Neonate

Exposure to environmental toxicants during pregnancy may have a significant impact on the developing fetus. Fetal adverse exposures are growing in importance as our population expands and the number of women participating in the workforce continues to rise. In 2015, women comprised 47% of the workforce in the United States, and 73.5 million women aged 16 and over were employed. Approximately 75% worked full time. In…

Surgical Treatment of the Fetus

Summary Over the past half-century, implementation of high-resolution screening prenatal imaging, coupled with increasingly nuanced understanding of embryology and human fetal development, have created a new surgical patient: the fetus. Through decades of rigorous scientific investigation and technical innovation, congenital anomalies that previously carried a grim prognosis are now candidates for fetal intervention. As experience has grown with fetal surgical intervention, we have been able to…

Estimation of Fetal Well-Being

In high-risk populations at increased risk of perinatal mortality, antenatal fetal surveillance is often employed in an attempt to prevent stillbirth. Pregnancies at risk for progressive deterioration of placental function leading to fetal hypoxemia and acidosis are most likely to benefit from the methods currently in use. The various modalities, including non-stress test (NST), contraction stress test (CST), biophysical profile, and Doppler velocimetry, rely on fetal…

Perinatal Ultrasound

Ultrasound has permanently changed imaging in perinatology, increasing expectations of success and improving outcomes in maternal and neonatal care. The method is safe, real time, relatively inexpensive, and readily available in hospitals and clinics worldwide. Fetal imaging is the most common ultrasound study. Identifying anomalies related to fetal and placental development or dating errors is crucial. Sonographic genetic screening, cervical assessment, Doppler vascular measurements, and three-dimensional…

Genetic Aspects of Perinatal Disease and Prenatal Diagnosis

The genetic basis of human disorders is a fundamental cornerstone of modern medicine. Recent advances in our understanding of complex genetic disorders coupled with technical developments have allowed genetics to become an invaluable part of clinical practice. This chapter highlights essential concepts regarding the genetic basis of disease and issues surrounding prenatal evaluation and diagnosis. Principles of inheritance, teratogens, genetic screening, and diagnostic modalities are discussed.…

Social and Economic Contributors to Neonatal Outcome in the United States

Epidemiology of Health Disparities in Neonatal and Perinatal Medicine While there have been significant improvements in neonatal and infant mortality in the United States over the past 50 years, compared to other high income countries in the world, the United States alarmingly lags behind these other countries in infant mortality rates. Infant mortality and morbidity rates are commonly used as an important indicator worldwide of overall…

Perinatal and Neonatal Care in Developing Countries

The science and practice of modern neonatology evolved as a medical specialty in the United States and the Western world over the last 70 years. Neonatology as a specialty in developing countries is still evolving. The increased attention to improving newborn care at a global level can be traced to the recognition by the World Health Organization (WHO) of unacceptably high infant mortality in low- and…

Practicing Evidence-Based Neonatal-Perinatal Medicine

This chapter focuses on five strategic processes in practicing evidence-based, neonatal-perinatal medicine: (1) asking a focused clinical question; (2) searching MEDLINE, the Cochrane Library, and other sources for high-quality evidence (primary reports and systematic reviews); (3) critically appraising the retrieved evidence for its validity; (4) extracting the data; and (5) applying the results to patient care. The role of the Cochrane Collaboration in the preparation, dissemination,…

Simulation and Debriefing in Neonatal-Perinatal Medicine

Introduction Whereas teaching is something that is (passively) done to trainees, learning is something that trainees must (actively) do themselves. Because not everything that is taught is necessarily learned , programs that best facilitate skill acquisition in trainees are those that focus on learning rather than on teaching. Traditional didactic programs are passive by nature, and the settings in which they are held are typically isolated…

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…