Congenital Malformations and Perinatal Injury PDF

NP03L005 ELO D · Version 2.0 CONGENITAL MALFORMATIONS AND PERINATAL INJURY Introduction to Maternity and Pediatric Nursing, 8th ed., pp. 328 - 353 TERMINAL LEARNING OBJECTIVE Perform nursing care of a newborn with a perinatal injury or congenital malformation. ENABLING LEARNING OBJECTI...

NP03L005 ELO D · Version 2.0 CONGENITAL MALFORMATIONS AND PERINATAL INJURY Introduction to Maternity and Pediatric Nursing, 8th ed., pp. 328 - 353 TERMINAL LEARNING OBJECTIVE Perform nursing care of a newborn with a perinatal injury or congenital malformation. ENABLING LEARNING OBJECTIVE Identify congenital malformations or perinatal injuries that may be present at birth. BIRTH DEFECTS Abnormalities apparent at birth 3% to 4% of all live births Abnormalities that are apparent at birth The abnormality may be of: Structure Function Metabolism May result in a physical or mental disability, may shorten life, or may be fatal CLASSIFICATIONS OF BIRTH DEFECTS Malformations present at birth May also be known as congenital malformations Inborn errors of metabolism Disorders of the blood Chromosomal abnormalities Perinatal injuries MALFORMATIONS PRESENT AT BIRTH NERVOUS SYSTEM Neural tube defects Failure of neural tube closure Hydrocephalus Spina bifida Newborn infant with Spina Bifida HYDROCEPHALUS Increase of cerebrospinal fluid within the ventricles of the brain Pressure changes cause increase in head size PATHOPHYSIOLOGY Imbalance between production and absorption of cerebrospinal fluid (CSF) Causes pressure changes in the brain Increase in head size Congenital or acquired Classified as: Non-communicating Communicating SYMPTOMS OF INCREASED INTRACRANIAL PRESSURE (ICP) Increased blood pressure Decrease in pulse rate Decrease in respirations High-pitched cry Unequal pupil size or response to light Bulging fontanelles in infants Headaches in children due to closed cranial sutures Irritability or lethargy Vomiting Poor feeding MANIFESTATIONS Sign and symptoms depend on the time of onset and the severity of the imbalance At birth, the head enlarges rapidly and the fontanelles bulge Scalp is shiny, and the veins are dilated Pupils of the eyes may appear to be looking down MANIFESTATIONS ARNOLD-CHIARI MALFORMATION DANDY WALKER SYNDROME DIAGNOSIS Transillumination Daily head circumference measurements Echoencephalography Computed tomography scanning Magnetic resonance imaging Ventricular tap or puncture TREATMENT Diuretics Acetazolamide Furosemide Surgery Bypass Shunt PREOPERATIVE NURSING CARE Vital signs Skin preparation Emotional support for parents NURSE CARE OF THE INFANT WITH HYDROCEPHALUS Position change frequently Monitor bony prominences Feed when calm and not in a hurry Monitor fontanelles Measure head circumference Report signs/symptoms of increased intracranial pressure POSTOPERATIVE NURSING CARE Pain management Protect from infection Skin assessment Abdominal measurement Monitor intake and output Education and support patient and family PROGNOSIS 80% survival rate when treated early 1/3 of cases result in normal physical and neurological functions Others have varying degrees of developmental disabilities SPINA BIFIDA Myelodysplasia PATHOPHYSIOLOGY Imperfect closure of the spinal vertebrae Two forms Occulta (hidden) Cystica (sac or cyst) FIG. 14.4 Types of Spina Bifida. (A) Spina bifida occulta. There is a defect in the bony canal. The meninges and spinal cord are normal. (B) Spina bifida cystica meningocele. The spinal cord is normal, but there is a defect in the bony canal. The meninges protrude through this defect. (C) Spina bifida cystica meningomyelocele. There is a defect in the bony canal. The meninges protrude, and the spinal cord protrudes through the defect. SPINA BIFIDA OCCULTA No protrusion of structures Often undetected L5 and S1 A child with a hairy patch in the lumbosacral region, indicating the site of spina bifida occulta SPINA BIFIDA CYSTICA Development of cystic mass in midline of the opening of the spine Meningocele Meningomyelocele PREVENTION Cause in unknown Mother takes folic acid 0.4 mg per day before becoming pregnant Continues until the 12th week of pregnancy TREATMENT Surgical closure Habilitation Assistive devices Urinary sphincter in early childhood Oxybutynin chloride (Ditropan) Bowel training NURSING CARE Prevent infection Correct positioning Good skin care Adequate nutrition Place in incubator after delivery Moist, sterile dressing or saline Protect from injury Neurological assessment Promote parent-infant relationship CHECK ON LEARNING Breanna, 4-month-old, is brought to the hospitably her mother because she had a seizure this morning. The admission physical exam shows an irritable, thin, lethargic child who the mother says has been vomiting the small amount of formula she would eat. Her height and weight measurements are below normal, and her head circumference is slightly larger than normal. Brenna has not had any health care since her birth in a distant city. The admitting diagnosis is suspected hydrocephalus. Which cues suggest increase intracranial pressure? List diagnostic tests that may be done to confirm the diagnosis. What nursing measures should be taken to promote skin integrity? How should Breanna be positioned during and after feeding? CHECK ON LEARNING Before surgical repair, the usual position of a newborn with a meningomyelocele is __________________. a. side-lying with the head slightly below the level of the heart b. prone, maintaining abduction with a pad between the legs c. supine with the crib flat to stabilize blood pressure d. supine with the legs widely abducted and thighs flexed  CLEFT LIP GASTROINTESTINAL SYSTEM An infant with a unilateral cleft lip and palate PATHOPHYSIOLOGY A fissure or opening in the upper lip Occur more in boys One or both sides of the lip Common congenital anomaly TREATMENT AND NURSING CARE Treatment Surgical repair Cheiloplasty Nursing Care Preoperative Postoperative Physical assessment Prevent infant from sucking and crying Photographs Careful positioning Report infection Prevent injury to operative site Restraints Emotional needs of infant Syringe feeding Pain relief and sedation FEEDING Dropper feedings Prevent sucking as much as possible Allow time for swallowing Sterile water Encourage parental participation Burp frequently  CLEFT PALATE GASTROINTESTINAL SYSTEM PATHOPHYSIOLOGY Failure of the hard palate to fuse at the midline 7th to 12th weeks of gestation May not be apparent at birth Feeding problems Speech- later in life TREATMENT Goal Union of the cleft Improved feeding Improved speech Improved dental development Nurturing positive self esteem Surgical repair Multidisciplinary team Psychosocial adjustment for family POSTOPERATIVE TREATMENT AND NURSING CARE Nutrition Oral hygiene Speech Diversion Complications CHECK ON LEARNING Describe postoperative nursing care for the child with a cleft lip/palate repair.  CLUB FOOT MUSCULOSKELETAL SYSTEM PATHOPHYSIOLOGY Congenital abnormality of the skeletal system 1 in 1000 births Mild cases caused by improper position in uterus Cannot be repaired with exercises NURSING CARE Cast care Dry from the inside out over 24-48 hours Synthetic casts Assess capillary refill If surgery is performed, note any bleeding and monitor vital signs TREATMENT Begin as early as possible Splinting or casting in infancy Surgery if other methods fail Review normal growth and development of children Long-term care of orthopedic patient Financial burdens of hospitalizations, surgery, special shoes, and continued medical supervision Social service referral DEVELOPMENTALHIP DYSPLASIA PATHOPHYSIOLOGY Head of femur partly or completely displaced Heredity and environmental factors appear to causal factors Seven times more common in girls Early detection is important MANIFESTATIONS Discovered during health exam First or second month of life Most reliable sign Limited abduction on the affected side Asymmetry of skin folds and shortening of the femur Early signs of dislocation Ortolani’s sign Barlow’s Test Confirmed by radiographic studies TREATMENT Begins immediately on detection of dislocation Pavlik harness Spica cast Pavlik harness Spica cast NURSING CARE Careful observation Note gait and posture Older children Parental guidance of immobilization devices Patient positioning Dressing and clothing CHECK ON LEARNING Appropriate care related to a new plaster cast for correction of clubfoot in the newborn is to ______________. a. keep the newborn snugly wrapped until the cast is dry to prevent hypothermia b. sprinkle powder into the dry cast to reduce skin irritation at the edges of the cast c. position with the feet lower than the level of the heart until the cast is dry d. observe the toes for pallor, cyanosis, reduced capillary refill, or cold temperature CHECK ON LEARNING A 7-lb. newborn who was born breech has limited abduction of the left leg and a positive Barlow test result. What other physical findings would one expect, and what teaching should the nurse provide to the newborn’s parents? METABOLIC DEFECTS Inborn errors of metabolism involve a genetic defect that may not be apparent until after birth Symptoms to report include Lethargy Poor feeding Hypotonia Unique odor to body or urine Tachypnea Vomiting PHENYLKETONURIA Faulty metabolism of phenylalanine Transmitted by autosomal recessive gene Occurs mainly in blonde and blue-eyed children Early detection and treatment is important MANIFESTATIONS Severe retardation Failure to thrive Integumentary conditions Musty odor Personality disorders Seizures DIAGNOSIS Guthrie blood test Confirmatory test Quantitative elevations of phenylalanine in blood TREATMENT Dietary management Frequent evaluations of phenylalanine levels Genetic counseling Medication sapropterin dihydeochloride (Kufan) Note: Children with PKU must avoid the sweetener aspartame (NutraSweet or Equal) because it is converted to phenylalanine in the body MAPLE SYRUP URINE DISEASE Caused by defect in metabolism of branched-chain amino acids Marked serum elevation of leucine, isoleucine, valine If untreated → death within two weeks MANIFESTATIONS Healthy at birth Develops feeding difficulties Loss of moro reflex Irregular respirations Body fluids smell sweet (maple syrup) Ketoacidosis Urine contains high levels of leucine, isoleucine, and valine TREATMENT Removing the amino acids and their metabolites from the body tissues Hydration and peritoneal dialysis to decrease serum levels Lifelong diet low in amino acids leucine, isoleucine, and valine Exacerbations are usually related to degree of abnormality of leucine level GALACTOSEMIA The body is unable to use carbohydrate: Galactose and lactose Can cause cirrhosis, cataracts, intellectual impairment if left untreated Manifestations Abrupt beginning Worsens gradually Early signs: lethargy, vomiting, hypotonia, diarrhea, failure to thrive Jaundice may be present DIAGNOSIS AND TREATMENT Confirmation Treatment Blood and urine tests Eliminate mile and lactose Galacotsemia from diet Galactosuria Breastfeeding Lactose-free formulas Emotional support CHECK ON LEARNING Explain how and when the nurse will screen a newborn for PKU. CHECK ON LEARNING Explain if the baby should be rechecked for PKU values and when. CHECK ON LEARNING A newborn’s initial PKU screening is positive. What confirmation test is done positive results on a screening test? CHECK ON LEARNING The child with PKU must be on a diet that is ___________. a. low in fatty acids to promote intellectual development b. high in soluble fiber to reduce constipation c. low in phenylalanine to limit buildup of the protein d. fluid restricted to reduce the wastes delivered to the kidneys CHROMOSOMAL ABNORMALITIES  DOWN SYNDROME PATHOPHYSIOLOGY Most common chromosomal abnormality Three phenotypes Trisomy 21 Mosaicism Translocation TRISOMY 21 Most common type Three number 21 chromosomes Failure of chromosome to follow normal separation process MOSAICISM Nondisjunction Failure of a chromosome to follow normal separation process Patient less severely affected physical appearance and intelligence TRANSLOCATION A piece of chromosome in the pair 21 breaks away Highest rate of recurrence in future pregnancies SCREENING AND DIAGNOSIS Begins in first trimester of pregnancy Ultrasound Second trimester Quad test Positive tests in first and second trimester Amniocentesis – confirms diagnosis MANIFESTATIONS Signs apparent at birth Close-set and upward slanting eyes Small head Round face Flat nose Protruding tongue Short and thick neck Simian line on palm Underdeveloped muscles Loose joints Physical growth and development will be slower NURSING CARE Parental counseling Listen and provide support Involve parents in patient care Support services CHECK ON LEARNING Appropriate nursing care for parents immediately after the birth of a baby who has characteristics typical of Down syndrome should include: a. reassuring them that future babies are unlikely to have this problem. b. keeping the newborn in the nursery until a definitive diagnosis is made. c. spending time with them so they can best verbalize their concerns. d. teaching them about lifelong nutritional care the baby will need. PERINATAL INJURIES  ERYTHROBLASTOSIS FETALIS HEMOLYTIC DISEASE OF THE NEWBORN PATHOPHYSIOLOGY Apparent during fetal life or soon after birth Rh-negative mother and Rh-positive father produce Rh- positive fetus May cause severe anemia in infant with large amounts of antibodies Anemia may cause Fetal hypoxia Anasarca Heart failure (hydrops fetalis) DIAGNOSIS AND PREVENTION Extensive maternal history Indirect Coombs’ test Amniocentesis Monitor bilirubin levels in amniotic fluid Fetal Rh status Prevented with use of RhoGAM, administration: At 28 weeks gestation After spontaneous or therapeutic abortion Amniocentesis Women who have bleeding during pregnancy MANIFESTATIONS Anemia Jaundice Hyperbilirubinemia Enlarged liver and spleen Edema May result in heart failure or shock Kernicterus Bilirubin toxicity- excessive amounts of bilirubin in brain tissues TREATMENT Before birth In utero intravascular transfusion of packed RBC After birth Exchange transfusion Administration of immunoglobulin (IVIG) Phototherapy NURSING CARE Phototherapy Protect infant's eyes Assess eyes once per shift Remove patches during feedings Protect infant’s genitals from heat damage Assess skin Reposition every 2 hours Assess for jaundice Monitor fluids Measure weights daily CHECK ON LEARNING A newborn was delivered by cesarean section 12 hours ago. The nurse blanches the newborn’s skin over his clavicle and notes a yellow-orange tinge. The nurse also notes scleral yellowing. What is the appropriate nursing action in response to these signs and what treatment might the health care provider order? INTRACRANIAL HEMORRHAGE PATHOPHYSIOLOGY Most common type of birth injury Result from trauma or anoxia Preterm infants May occur during delivery, prolonged labor, or large head of infant Hemorrhage is noted by location Subdural Subarachnoid Intraventricular MANIFESTATIONS Signs may be sudden or Twitching gradual Forceful vomiting Dependent on severity High-pitched, shrill cry Poor muscle tone Convulsions Lethargy Opisthotonos posturing Poor sucking reflex Tense fontanelle Respiratory distress Asymmetric pupils Cyanosis TREATMENT Place infant in incubator Vitamin K administration Phenobarbital Prophylactic antibiotics and vitamins NURSING CARE Handle infant gently Elevate head of infant Feed carefully Observe for signs of increase intracranial pressure Neuro checks Vital signs Head circumference Palpate fontanelles Assist health care provider as needed  PATHOPHYSIOLOGY Occurs after cesarean birth or rapid vaginal delivery TRANSIENT Associated with slow absorption of lung fluid after TACHYPNEA birth OF THE MANIFESTATIONS NEWBORN Tachypnea Chest retractions Grunting Cyanosis Resolves after three days TREATMENT Supportive Provide warmth Conserve energy Supplemental oxygen MECONIUM ASPIRATION SYNDROME PATHOPHYSIOLOGY MANIFESTATIONS TREATMENT Newborn aspirates Respiratory distress Supportive care meconium-stained Resolves after three Provide warmth amniotic fluid into days Conserve energy lungs Supplemental oxygen Fetus expels some Intubation and meconium in utero mechanical Occurs when infant ventilation (if takes first breath necessary) Prior to suctioning of nose and mouth NEONATAL ABSTINENCE SYNDROME PATHOPHYSIOLOGY Occurs with prenatal exposure to drugs while fetus is in utero Ex. Opiates, amphetamines, tranquilizers, or multiple illicit drugs MANIFESTATIONS Body tremors Hyperirritability Wakefulness Poor feeding Sneezing Yawning TREATMENT Provide quite environment Swaddle infant Reduce external stimuli Observe for seizures CHECK ON LEARNING Fill in the blank. Intracranial hemorrhage around the time of birth is usually cause by _______________ or _______________. CHECK ON LEARNING List signs that should make the nurse suspect that a newborn has had an intracranial hemorrhage.  PATHOPHYSIOLOGY Depends on degree and control of maternal diabetes INFANT Petal pancreas produces large amounts of insulin Newborn weighing more than 4082 g (9lb) OF A Macrosomia MANIFESTATIONS DIABETIC Infant prone to injuries at birth After birth infant has low blood glucose levels MOTHER Infant is lethargic Infant presents with round face May suffer from respiratory distress syndrome (RDS) Hypoglycemia, hypocalcemia, and hyperbilirubinemia NURSING CARE Close monitoring of vital signs Early feeding Frequent assessment of blood glucose levels Observe for irritability, tremors, and respiratory distress CHECK ON LEARNING What complication is more likely for a newborn of a diabetic mother within the first few hours after birth? a. Intracranial hemorrhage b. Hyperactive reflexes c. Excessive urination d. Low blood glucose levels REVIEW OF MAIN POINTS Hydrocephalus Hemolytic Disease of the Spina Bifida Newborn Erythroblastosis Fetalis Cleft lip Intracranial Hemorrhage Cleft palate Transient Tachypnea of the Clubfoot Newborn (TTN) Development Hip Dysplasia Meconium Aspiration Phenylketonuria (PKU) Syndrome (MAS) Maple Syrup Urine Disease Neonatal Abstinence Galactosemia Syndrome (NAS) Down Syndrome Infant of a Diabetic Mother ANY QUESTIONS Believe in yourself and all that you are. – Christian D. Larson