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Principles of Genetic Counseling

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 genetic counseling as, “the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates…

Non-Mendelian Genetics

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 the offspring, and therefore Mendelian patterns of inheritance are very predictable. Classically, these include single-gene disorders that follow autosomal dominant, autosomal recessive, and X-linked inheritance patterns.…

Principles of Genetics and Genomics

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 rapid gene sequencing have not only greatly enhanced our understanding of common and uncommon disorders but also changed the way the medical profession approaches the diagnosis,…

Neurodevelopmental outcomes following very preterm birth: What clinicians need to know

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 it is possible that reductions in mortality are associated with increases in short- and long-term morbidity. Long-term outcome studies of children born very preterm are essential…

Congenital heart disease: An important cause of brain injury and dysmaturation

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 in CHD. Fetal neuroimaging studies have found that brain dysmaturation begins in utero and may be linked to altered cerebral blood flow and oxygenation in fetuses…

Magnetic resonance imaging—newer techniques and overall value in diagnosis and predicting long-term outcome

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 and vascular mechanisms of perinatal brain damage, showing a correlation between the nature of the injury and the maturation of the brain, but effects on long-term…

Amplitude-integrated EEG and its potential role in improving neonatal care within the NICU

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. Apgar scores were 1, 0, 0 at 1, 5, and 10 minutes, respectively. The infant was resuscitated for 15 minutes with intravenous adrenalin given once. The…

Neonatal hypotonia and neuromuscular disorders

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 by most clinicians and, if ordered incorrectly, may lead to false normal results. 2. It is important for clinicians to know that normal creatine phosphokinase (CPK)…

Neonatal herpes simplex virus, congenital cytomegalovirus, congenital Zika, and congenital and neonatal SARS-CoV-2 virus infections

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 also discussed in detail. Among the numerous viral pathogens that cause central nervous system (CNS) infections in the neonatal period, herpes simplex virus (HSV) and cytomegalovirus…

Neonatal meningitis: Current treatment options—an update

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 minimum of a 4-week treatment course is recommended for infants with complicated courses (e.g., abscess). The treatment of gram-negative meningitis initially includes the addition of a…

Glucose and perinatal brain injury: Questions and controversies

Introduction Neonatal hypoglycemia is the most common biochemical abnormality of the newborn, affecting 5%–15% of all infants and 50% of those with risk factors. Although severe hypoglycemia has been incontrovertibly linked with brain injury and impairment, the glucose thresholds below which injury occurs have not been clearly established, and in fact, may differ based on various host factors. In the absence of clear evidence of a…

Diagnosis and management of acute symptomatic seizures in neonates

Neonatal seizures—introduction Seizures occur during the neonatal period in approximately 2 to 4 per 1000 live births. Seizures are a neurologic emergency: they are often caused by acute brain injury or treatable underlying conditions and rapid, appropriate treatment can improve treatment success. , Seizure management includes rapid and thorough diagnostic evaluation, as seizures are frequently the presenting symptom for electrolyte abnormalities, infection, hypoxic-ischemic injury, and intracranial…

General supportive management of the term infant with neonatal encephalopathy following intrapartum hypoxia-ischemia

Key points Early identification of the infant at risk for evolving hypoxic-ischemic brain injury and initiation of therapeutic hypothermia is critical in overall management. Glucose should be checked shortly after birth and corrected promptly as needed. Carbon dioxide should be maintained within a normal range to avoid exacerbation of brain injury. Judicious fluid management is necessary in this population at risk for acute kidney injury and…

Recent trials for hypoxic-ischemic encephalopathy: Extending hypothermia to infants not previously studied

Key points Hypothermia remains the sole therapy for evolving HIE that is associated with a significant reduction in death or disability. A longer duration of cooling or a lower temperature for cooling when treating hypoxic-ischemic encephalopathy is not recommended as it can be associated with harm. Rewarming is associated with an increase in electrographic seizures that is associated with worse neurodevelopmental outcomes. Cooling on transport is…

Posthemorrhagic hydrocephalus management strategies

Hemorrhage into the ventricles of the brain is one of the most serious complications of premature birth despite improvements in the survival of premature infants. Severe intraventricular hemorrhage (IVH) has a high risk of neurologic disability, and approximately 50% of children with a severe IVH go on to have progressive ventricular dilation. , Severe IVH is classified as grade III, a hemorrhage filling more than 50%…

Cerebellar hemorrhage in the preterm newborn

Key points Cerebellar hemorrhages (CBH) likely originate from the external granular layer, which is a superficial germinal matrix within the immature cerebellum. The anterior lobe of the cerebellum is principally connected with sensorimotor cortex, while the posterior lobe is connected with association regions of the cerebral cortex. Cranial ultrasound is only capable of detecting relatively large CBH, while MRI can detect punctate CBH, which are typically…

White matter injury in the premature infant

Case history JD is a 30-week appropriate for gestational-age male infant born to a 26-year-old primigravida woman whose pregnancy was complicated by intermittent vaginal bleeding from 20 weeks’ gestation. Partial placental abruption was diagnosed and mom was placed on bedrest, given a course of steroids and treated with magnesium sulfate. At 30 weeks, she had spontaneous rupture of membranes. Within several hours, labor progressed, and the…

Intraventricular hemorrhage in the premature infant

Background Case history HW was a 500 g, 23-week premature twin B male infant born to a 34-year-old G1P0 (gravida 1, para 0) mother whose pregnancy was complicated by the onset of premature labor. The mother received a dose of betamethasone approximately 6 hours before a vaginal delivery. She also received antibiotics and was given magnesium sulfate. The infant was delivered with minimal respiratory effort and…

Cerebral circulation and hypotension in the premature infant: Diagnosis and treatment

Key points Although there is no consensus on the definition of hypotension in preterm infants, up to 50% of very low birth weight (VLBW) infants are diagnosed with hypotension, and about one-third of extremely preterm infants receive at least one vasopressor/inotrope medication during the first postnatal week. There is an association between hypotension and brain injury and poor neurodevelopmental outcome. However, it remains unclear whether hypotension,…

Neurological and neurobehavioral evaluation

What skill sets do neonates possess? Bursts of developmental motor skills (i.e., rolling and subsequent sitting and walking) emerge around 4 months corrected age and serve as predictors for the infant’s developmental trajectory. This emergence of developmental skills enables fairly quick assessment of whether an infant is on target or falling behind. However, neonates also possess more subtle, spontaneous behaviors and responses that serve as the…