Chapter 21 The Newborn At Risk: Congenital Disorders

Transcription

1 Chapter 21 The Newborn At Risk: Congenital Disorders

2 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

3 Gastrointestinal System Defects Cleft lip and cleft palate Unilateral (one side of the lip) Bilateral (both sides) Esophageal atresia Absence of a normal body opening or the abnormal closure of a body passage

4 Cleft Lip and Cleft Palate Cleft lip:unilateral or bilateral Cleft palate Surgical repair Nutrition Post-operative Prevent aspiration Improve respiration Maintain fluid volume and nutritional intake Prevent injury and infection to surgical site

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6 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 Omphacele

7 Types of Hernias Diaphragmatic hernia Hiatal hernia Omphalocele Umbilical hernia Inguinal hernia

8 Central Nervous System Defects Spina bifida 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

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12 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

13 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)

14 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

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16 Patent Ductus Arteriosus

17 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

18 Coarctation of the Aorta is a narrowing of the aorta. It may present itself as early as birth or in late childhood. The signs are usually high blood pressure, or a higher blood pressure in the arms than in the legs. Older children sometimes complain of leg cramps. Surgery to correct this will equalize the blood pressure in the upper and lower extremities. The surgery involves opening the chest through a left thoracotomy incision, removing the narrowed portion of the aorta, and reattaching the two ends of the aorta together.

19 Four Abnormal Conditions of Tetralogy Ventricular septal defect: large hole between ventricles Stenosis at or just below pulmonary valve Overriding aorta Right ventricular hypertrophy

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21 Risk Factors for Newborn Heart Disease Maternal alcoholism Maternal irradiation Ingestion of certain drugs during pregnancy Maternal diabetes Advanced maternal age

22 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

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24 Congenital Hip Dysplasia Incidence: 1-2/1000 live births Nine times more common in females The leg may appear shorter on the side of the dislocated hip. The leg on the side of the dislocated hip may turn outward. The folds in the skin of the thigh or buttocks may appear uneven. The space between the legs may look wider than normal.

25 Congenital Hip Dysplasia Hip may be partially or completely dislocated Treatment: Pavlik s harness first Used on infants up to 6 months May fix the problem Spica cast used after closed reduction

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27 Congenital Hip Dysplasia Parents should be taught routine cast care Observe infant for: restriction of breathing Vomiting after eating Skin integrity

28 Genitourinary Tract Defects Hypospadias: Urethra terminates on the ventral surface of the penis Epispadias: The urethra is on the dorsal surface of the penis Exstrophy of the bladder: Anterior surface of bladder lies open on lower abdomen Ambiguous genitalia: Abnormally or incompletely formed external sexual organs

29 Inborn Errors of Metabolism Phenylketonuria Galactosemia Congenital hypothyroidism Maple syrup urine disease Homocystinuria

30 Genetic PKU Defect in the enzyme phenylalanine hydroxylase Body can t process phenylalanine (Phe) Phe found in all protein foods, wheat, some fruit High levels toxic to brain Causes: vomiting, irritability, eczema, seizures, psychological and behavioral issues, and severe mental retardation Tested in hospital 2-3 days after birth Lofenalac and Phenyl-free: low phenylalanine formulas

31 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

32 Galactosemia Genetic disorder Lack of liver enzyme to break down galactose jaundice, diarrhea, and vomiting develop and the baby fails to gain weight If not detected immediately, it results in liver disease, cataracts, mental retardation, and even death Death can occur as early as one to two weeks of age from severe escherichia (E. coli) bacteria infections. E. coli infections are common in untreated galactosemic infants.

33 Maple Syrup Urine Disease Genetic Inability to process the branched-chain amino acids leucine, isoleucine, and valine Symptoms: food avoidance, maple syrup smelling urine, vomiting, lethargy, seizures, coma

34 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

35 Chromosomal Abnormalities Down s syndrome Turner s syndrome Klinefelter s syndrome

36 Signs and Symptoms of Down s Syndrome Brachycephaly (shortness of head) Slowed growth Slanted (almond-shaped) eyes Short, flattened nose Thick tongue Dry, cracked, fissured skin Dry and coarse hair

37 Signs and Symptoms of Down s 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

38 Genetic disorder Turner s Syndrome Female without usual pair of 2 X chromosomes Cells are missing all or part of an X chromosome. The condition only occurs in females. Most commonly, the female patient has only one X chromosome. Others may have two X chromosomes, but one of them is incomplete. Sometimes, a female has some cells with two X chromosomes, but other cells have only one. Possible symptoms in young infants include: Swollen hands and feet; wide and webbed neck

39 Turner s Syndrome A combination of the following symptoms may be seen in older females: Absent or incomplete development at puberty, including sparse pubic hair and small breasts Broad, flat chest shaped like a shield Drooping eyelids Dry eyes Infertility No periods (absent menstruation) Short height Vaginal dryness, can lead to painful intercourse

40 Klinefelter s Syndrome Genetic disorder of males XXY trisomy Small testes, low testosterone levels in puberty Breast enlargement, reduced facial and body hair Taller than average Learning disabilities, speech and language May have behavior problems

41 Fetal Alcohol Syndrome Leading known preventable cause of mental retardation and birth defects Small size for gestational age or small stature in relation to peers Facial abnormalities: narrow eye slits; flat and long upper lip; underdeveloped midface; and flattened nose bridge Poor coordination Hyperactive behavior Learning disabilities Developmental disabilities (e.g., speech and language delays) Mental retardation or low IQ Problems with daily living Poor reasoning and judgment skills Sleep and sucking disturbances in infancy

42 Preventable disability Fetal Alcohol Syndrome Abstain from alcohol for 3 months before seeking pregnancy Children with FAS may benefit from special programs