The Newborn With a Congenital Disorder Chapter 14
Congenital Anomalies or Malformations May be caused by genetic or environmental factors Approximately 2% to 3% of all infants born have a major malformation Include defects of the gastrointestinal, central nervous, cardiovascular, skeletal, and genitourinary systems
Gastrointestinal System Defects Cleft lip and cleft palate Unilateral (one side of the lip) Bilateral (both sides) Esophageal fistula Absence of a normal body opening or the abnormal closure of a body passage
Gastrointestinal System Defects (cont.) Imperforate anus Rectal pouch ends blindly at a distance above anus Hernia Abnormal protrusion of a part of an organ through a weak spot or other abnormal opening in a body wall
Types of Hernias Diaphragmatic hernia Hiatal hernia Omphalocele Umbilical hernia Inguinal hernia
Spina bifida Central Nervous System Defects Failure of the posterior laminae of the vertebrae to close Leaves an opening through which the spinal meninges and spinal cord may protrude Hydrocephalus Excess of cerebrospinal fluid (CSF) within the ventricular and subarachnoid spaces of the cranial cavity
Cardiovascular System Defects: Congenital Heart Disease Cyanotic heart disease Implies an oxygen saturation of the peripheral arterial blood of 85% or less Occurs when a heart defect allows any appreciable amount of oxygen-poor blood in the right side of the heart to mix with the oxygenated blood in the left side of the heart
Classification of Heart Disease Based on Blood Flow Characteristics Increased pulmonary blood flow (e.g., ventricular septal, atrial septal, and patent ductus arteriosus) Obstruction of blood flow out of the heart (e.g., coarctation of the aorta) Decreased pulmonary blood flow (e.g., tetralogy of Fallot) Mixed blood flow, where saturated and desaturated blood mix in the heart, aorta, and pulmonary vessels (e.g., transposition of the great arteries)
Common Intracardiac Defects Ventricular septal defect Abnormal opening in the septum between the two ventricles allowing blood to pass directly from the left to the right ventricle Atrial septal defects Common heart anomalies that occur as isolated defects or in combination with other heart anomalies Patent ductus arteriosus The ductus arteriosus remains patent, resulting in a flooding of the lungs and an overloading of the left heart chambers
Common Intracardiac Defects (cont.) Coarctation of the aorta A constriction or narrowing of the aortic arch or the descending aorta usually adjacent to the ligamentum arteriosum Tetralogy of Fallot Consists of a grouping of heart defects Transposition of the great arteries The aorta arises from the right ventricle instead of the left, and the pulmonary artery arises from the left ventricle instead of the right
4 Abnormal Conditions of Tetralogy Pulmonary stenosis Ventricular septal defect Overriding aorta Right ventricular hypertrophy
Risk Factors for Newborn Heart Disease Maternal alcoholism Maternal irradiation Ingestion of certain drugs during pregnancy Maternal diabetes Advanced maternal age
Skeletal System Defects Congenital talipes equinovarus Deformity in which the entire foot is inverted, the heel is drawn up, and the forefoot is adducted Congenital hip dysplasia Results from defective development of the acetabulum with or without dislocation
Genitourinary Tract Defects Hypospadias: the urethra terminates on the ventral surface of the penis Epispadias: the urethra is on the dorsal surface of the penis Exstrophy of the bladder: the anterior surface of the bladder lies open on the lower abdomen Ambiguous genitalia: abnormally or incompletely formed external sexual organs
Inborn Errors of Metabolism Phenylketonuria Galactosemia Congenital hypothyroidism Maple syrup urine disease Homocystinuria
Signs and Symptoms of Phenylketonuria Frequent vomiting Aggressive and hyperactive traits Severe, progressive retardation Convulsions may occur Eczema is common, particularly in the perineal area Characteristic musty smell to the urine
Signs and Symptoms of Congenital Hypothyroidism Facial features include depressed nasal bridge, large tongue, and puffy eyes Neck is short and thick Voice (cry) is hoarse Skin is dry and cold Bone development is slow Chronic constipation and abdomen enlargement occur
Chromosomal Abnormalities Down syndrome Turner syndrome Klinefelter syndrome
Signs and Symptoms of Down Syndrome Brachycephaly (shortness of head) Slowed growth Slanted (almond-shaped) eyes Short, flattened nose Thick tongue Dry, cracked, fissured skin Dry and coarse hair
Signs and Symptoms of Down Syndrome (cont.) Short hands with an incurved fifth finger Single horizontal palm crease (simian line) Wide space between the first and second toes Lax muscle tone Heart and eye anomalies Greater susceptibility to leukemia