Overview Genetic counseling is a process of evaluating family history and medical information to advise patients of the risk of a genetic condition. This can have both a diagnostic and supportive element. The National Society of Genetic Counselors officially defines…
Introduction Mendel wrote in 1865 that when crossing plants, “numerous experiments have demonstrated that the common characters are transmitted unchanged to the hybrids and their progeny.” Mendel described that “common characters,” or genes, are passed unchanged from the parent to…
Introduction Few areas in medicine have seen such rapid and dramatic advances in knowledge and technology as the field of genetics has over the past two decades. Breakthroughs such as the mapping of the human genome and technological advancements enabling…
Introduction The vast majority of children born very preterm (<32 weeks’ gestation) now survive, with survival rates increasing significantly over the past three decades due to advances in obstetric and neonatal care. While important, survival is only one outcome, and…
Key points Although there have been significant improvements in the survival of infants with congenital heart disease (CHD), they remain at high risk for neurodevelopmental impairments. Brain dysmaturation and brain injury are key brain changes contributing to adverse neurodevelopmental outcomes…
Introduction Despite marked improvements in antenatal and perinatal care, perinatal brain injury remains one of the most important medical complications in the newborn resulting in significant handicap later in life. Experimental advances have helped to understand many of the cellular…
Case description ( Fig. 14.1 ) The patient was born at 40 weeks’ gestation and weighed 3150 g at birth. An emergency cesarean section was performed for suspected fetal compromise with bradycardia on the cardiotocogram because of a nuchal cord.…
Gaps in knowledge 1. The severe hypotonia and hyporeflexia in Prader-Willi syndrome (PWS) may lead to unnecessary invasive tests such as electromyography, muscle biopsy, and/or genetic testing for spinal muscular atrophy (SMA). Genetic testing for PWS is not well understood…
Key points After reading this chapter, readers will be familiar with the epidemiology of congenital infections such as CMV, HSV, Zika, and SARS-CoV-2 virus. Risk factors for acquiring these infections are discussed. Clinical manifestations, diagnosis, treatment, and clinical outcomes are…
Summary As many as 40% of infants with meningitis do not have a positive blood culture at the time of their diagnosis. Infants with uncomplicated meningitis due to group B streptococcus should receive a 14-day course of antimicrobial therapy. A…