The Newborn at Risk: Acquired and Congenital Conditions Chapter 16 The Newborn at Risk: Acquired and Congenital Conditions Review chapter objectives. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Chromosomal Disorders Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc. Objectives Define key terms listed. Discuss the prenatal diagnosis of Down syndrome. Recognize three out of four genetic inborn errors of metabolism. Compare the metabolic disorders hypoglycemia, maple syrup urine disease, hypothyroidism, and phenylketonuria; their effect on the newborn; and the nursing implications. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc. Objectives (cont.) Describe common congenital anomalies. Interpret signs associated with elevated bilirubin in the newborn. Explain the nursing interventions used in phototherapy. Articulate the principles of newborn resuscitation. Outline the common respiratory problems in the newborn. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc. Birth Defects An abnormality of structure, function, or metabolism may result in a physical or mental disability, may shorten life, or may be fatal See Box 16-1 (p. 321). Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Classification of Birth Defects Malformations present at birth Metabolic defects (body chemistry) Blood disorders Chromosomal abnormalities Perinatal injury Review Box 16-1 (p. 321) for more information on each class of birth defects. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Chromosomal Disorders Abnormal chromosome number or arrangement can cause congenital defect May receive too little or too much genetic material As embryo develops, genetic information is “scrambled” and may translate into a variety of congenital defects Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc. Down Syndrome Trisomy 21 (extra chromosome) Most common chromosomal syndrome Mothers older than 35 have higher incidence First trimester screening: ultrasound assessment of thickness of fetal nuchal fold Second trimester screening: absence of nasal bone or “quad test” of blood for alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (UE), and inhibin A Low AFP or high hCG and inhibin A, with low UE, may indicate high risk for Down syndrome. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Characteristics of Down Syndrome Craniofacial abnormalities Straight simian crease in palm of hand Mental retardation with IQ around 50 Females are fertile; males are usually infertile At birth, newborns are usually hypotonic and exhibit feeding difficulties. Hearing and speech difficulties may be present and can complicate efforts toward education. Cardiac, orthopedic, and thyroid dysfunction common. Alzheimer’s often develops early in third decade of life. Altered immune response increases susceptibility to respiratory and dental infection. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Inborn Errors of Metabolism May not always manifest at birth Screening tests important for early detection Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Phenylketonuria (PKU) Autosomal-recessive, inherited inborn error of phenylalanine Faulty metabolism of an amino acid essential to life and found in all protein foods Hepatic enzyme phenylalanine hydrolase, which is needed to convert phenylalanine to tyrosine, is missing Once infant ingests proteins, phenylketones accumulate in blood and then in brain Can result in pronounced brain damage Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Phenylketonuria (PKU) (cont.) Diagnosed by Guthrie test Best if blood obtained after infant has ingested protein Treatment is with phenylalanine-restricted diet Goals of diet are to provide essential proteins to support growth and development and keep phenylalanine blood levels between 2 and 10 mg/dL Less than 2 mg/dL can cause growth retardation More than 10 mg/dL can cause brain damage If mother has PKU and does not follow diet, infant can have congenital heart defects, microcephaly, mental retardation. Parents should meet with dietitian for guidance in dietary restrictions that must be followed to ensure the health of the infant. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc. Galactosemia Deficiency in enzyme needed to convert galactose to glucose Can cause failure to thrive, cataracts, jaundice, cirrhosis of liver, sepsis, and mental retardation Breastfeeding is contraindicated due to the lactose What kind of medications should be avoided in infants with galactosemia? Answer: those that contain lactose fillers. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc. Hypothyroidism Caused by maternal iodine deficiency or use of antithyroid drugs If not treated with thyroid replacement, hypothermia, poor feeding, lethargy, jaundice, and cretinism can occur Infant has large protruding tongue, thick lips, and a dull appearance Testing for hypothyroidism is mandated nationwide Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Maple Syrup Urine Disease The amino acids leucine, isoleucine, and valine cannot be metabolized due to missing enzymes Elevated levels of leucine cause cerebral edema and CNS symptoms Body fluids have a sweet odor Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Common Congenital Anomalies Cleft lip and palate Esophageal atresia Spina bifida Hydrocephalus Developmental dysplasia of the hip Clubfoot Patent ductus arteriosus Tetralogy of Fallot Refer to Table 16-1 (pp. 325-328) listing more common congenital anomalies. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Hyperbilirubinemia (Physiologic Jaundice) Physiologic jaundice; icterus neonatorum Metabolism and excretion of excess waste products, liver immaturity, delayed feeding, trauma, or cold stress Can also occur due to cephalohematoma, extensive bruising, infections, acidosis Typically occurs third day of life and peaks around fifth day Total serum bilirubin level over 12 mg/dL Abnormally high levels of bilirubin in blood. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Hyperbilirubinemia (Physiologic Jaundice) (cont.) Skin and whites of eyes assume yellow-orange cast The higher the bilirubin, the deeper the jaundice Conjugation of bilirubin inhibited by lack of bacteria in intestines or low levels of glucuronyl transferase enzyme Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Hyperbilirubinemia (Physiologic Jaundice) (cont.) High levels of bilirubin can stain basal nuclei of brain and cause kernicterus Stimulation of meconium stool passage Early feedings enhance passage Colostrum in breast milk has natural laxative effect Glucose water avoided, since little bilirubin is excreted and can increase absorption of bilirubin due to retained stool Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Assessment of Physiologic Jaundice Blanch test Yellow tinge appears Head-to-toe progression of jaundice The more of the body that is yellow-orange, the higher the bilirubin level Serum test for blood levels Transcutaneous measuring via hand-held device See Skill 16-1 (p. 329) on blanch testing for jaundice. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Hyperbilirubinemia (Pathologic Jaundice) Hemolytic disease – excessive breakdown of RBCs due to maternal antibodies passing through placenta to fetus Isoimmune hemolytic disease (erythroblastosis fetalis) Rh– mother pregnant with Rh+ fetus Transplacental passage of maternal antibodies Fetal system responds by increasing RBCs, and many are immature Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Hyperbilirubinemia (Pathologic Jaundice) (cont.) At birth, newborn with hemolytic disease caused by Rh incompatibility will have a positive direct Coombs’ test Reveals presence of antibody-coated (sensitized) Rh-positive RBCs in newborn Indirect Coombs’ test measures amount of Rh-positive antibodies in mother’s blood Jaundice that is first evident after the third day of life is usually caused by ______. Answer: physiologic icterus neonatorum. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Management of Jaundiced Newborn Goal is prompt identification of newborns at risk for jaundice and early implementation of treatment to prevent development of kernicterus Newborn hyperbilirubinemia considered pathologic if jaundice is evident within first 24 hours of life Clinical jaundice persists for more than 14 days Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Clinical Signs of Kernicterus Temperature instability Poor feeding Decreased muscle tone Poor Moro reflex Lethargy High-pitched cry Rigidity Irritability Opisthotonos position Seizures Upward gaze Dark urine Light stools Apnea and seizures possible in preterm newborns Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc. Phototherapy Blue light spectrum decreases bilirubin levels Converts unconjugated bilirubin into isomers called photobilirubin, which is transported to liver, where it combines with bile and is excreted in feces and some in urine Eyes and genitalia are covered. Frequent stools occur with rapid decrease in bilirubin and can lead to perineal excoriation; do not use ointments, since they can cause burns on infant’s skin. Review the advantages and disadvantages of each type of light therapy. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Blood Exchange Transfusion May be indicated if bilirubin level greater than 25 mg/dL Alternately, remove small amount of newborn’s blood from umbilical vessels and replace with donor blood Rh-negative blood is used Observe for transfusion reaction Jitteriness Seizures Edema Signs of fluid overload Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc. RhoGAM Prevents erythroblastosis fetalis IM injection given to an Rh-negative mother within 72 hours of delivery of an Rh-positive newborn, provided she has not been previously sensitized Can also be given at 28 weeks gestation Need RhoGAM also after an abortion, after amniocentesis, or if bleeding occurs during pregnancy See Box 16-2 (p. 332). Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc. Hypoglycemia Two consecutive low values on blood taken 30 minutes apart Plasma glucose less than 25 mg/dL usually treated with IV glucose Newborns of diabetic mothers at risk for hypoglycemia when insulin levels remain high and glucose from placenta is decreased Brain requires a constant supply of glucose; therefore, hypoglycemia must be promptly treated. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc. Signs of Hypoglycemia Lethargy Hypotonia Jitteriness Poor feeding Tachypnea Apnea Sweating Shrill cry Low temperature Seizures Refer to Box 16-3 (p. 332). Why shouldn’t the newborn be given glucose water to treat hypoglycemia? Answer: it raises glucose levels, which result in elevated insulin production and than a drop in glucose levels. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Respiratory Disorders Respiratory distress syndrome Meconium aspiration syndrome Transient tachypnea of the newborn Persistent pulmonary hypertension of the newborn Sepsis Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Respiratory Distress Syndrome (RDS) Hyaline membrane disease Major cause of newborn morbidity and death Impaired or delayed surfactant key role Hypoxemia, metabolic acidosis, pulmonary vasoconstriction Decreased ability to exchange oxygen and carbon dioxide and remove metabolic waste products Review Table 16-2 (p. 335). Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Respiratory Distress Syndrome (RDS) (cont.) Initially see tachypnea, nasal flaring, subcostal and intercostal retractions, cyanosis, and respiratory grunting Signs usually appear within 1 hour of birth Silverman-Anderson index looks at Chest and abdominal movement Intercostal spaces Xiphoid area Nares Expiratory sound Review Safety Alert—Signs of Respiratory Distress in Neonates (p. 333), Figure 16-7 (p. 334), and Table 16-2 (p. 335). Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Respiratory Distress Syndrome (RDS) (cont.) Avoid preterm birth If necessary, mother is given corticosteroids to stimulate fetal lung production of surfactant After birth, administration of surfactants by trachea to newborn Review technique to use. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Meconium Aspiration Syndrome Fetal physical response to asphyxia in utero, causing Increased intestinal peristalsis Relaxation of anal sphincter Passage of meconium into amniotic fluid Fetus experiences hypoxia; gasping movements draw meconium into fetal airways Rarely occurs in fetuses younger than 34 weeks gestation Primarily affects postterm infants and those who have been through a prolonged labor and intrauterine asphyxia. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Meconium Aspiration Syndrome (cont.) Obstruction of large or upper airways leads to hypoxic emergency Meconium in lungs cause a ball-valve action Air is allowed in but cannot escape Causes Overdistention of alveoli Leads to alveolar rupture Pulmonary air leaks Chemical inflammation Atelectasis Pneumothorax can occur with air leaks. Can have extreme acidosis from cardiac shunting and decreased perfusion; extreme hypoxia can occur, even with aggressive treatment (i.e., 100% oxygen and mechanical ventilation). Clinical signs of MAS are yellow-greenish staining of the skin, nails, and umbilical cord; tachypnea; sternal retractions, generalized cyanosis; and metabolic acidosis. What intervention provided before delivery has helped lessen the severity of MAS? Answer: amnioinfusion. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Persistent Pulmonary Hypertension of the Newborn (PPHN) Combination of pulmonary hypertension and persistence of right-to-left shunting in the heart Fetal circulation persists even after delivery (also called persistent fetal circulation) Could be due to single entity or main component of meconium aspiration syndrome, pneumonia, sepsis, or diaphragmatic hernia When right-to-left shunting occurs, hypoxemia results and progresses to hypoxia and metabolic acidosis, which cause a worsening of pulmonary vasoconstriction. Some treatments include ECMO, incubators, parenteral nutrition, and minimal external stimulation. What are contributing factors to the development of PPHN? Answer: maternal use of aspirin, NSAIDs, and general hypoxia. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Transient Tachypnea of the Newborn (TTN) Seen more in cesarean births May be a result of insufficient thoracic squeeze Results in retained fetal lung fluid Respiratory rate increases to help rid lungs of retained fluid Between 100 and 140 breaths/min Will show expiratory grunting, nasal flaring, and mild cyanosis Usually self-limiting See Figure 16-8 (p. 336). Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Common Congenital Defects Associated with uncontrolled hyperglycemia throughout pregnancy Defects include Congenital heart defects Tracheoesophageal fistulas CNS anomalies Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Audience Response System Question 1 Decreased ability to exchange oxygen and carbon dioxide and remove metabolic waste products indicates the infant has what type of syndrome? Hypothryoidism Respiratory distress Phenylketonuria Maple syrup urine Answer: B. Hypoxia occurs and causes metabolic acidosis, which leads to pulmonary vasoconstriction. This then leads to the newborn being unable to exchange oxygen and carbon dioxide necessary for perfusion of oxygenated blood to vital organs and removal of metabolic waste products. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Effects on the Newborn’s Metabolism Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc. Objectives Characterize the effect of maternal diabetes on the newborn. Outline six problems of infants born to mothers with diabetes mellitus. Explain factors responsible for newborn sepsis, and state the nurse’s role in reducing the risks. Discuss the nursing assessment that would lead the nurse to suspect newborn sepsis. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc. Objectives (cont.) Identify the defects involved in the tetralogy of Fallot and common manifestations. Compare the alteration of blood flow of cyanotic and noncyanotic congenital heart defects. Explain the pathophysiology of noncyanotic congenital heart defects. Describe care of the newborn who has neonatal abstinence syndrome. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Infants of Diabetic Mothers Long-term diabetic mothers May have deficient nutrients as a result of decreased blood flow reaching fetus Hypertension can further compromise uteroplacental blood flow Can cause fetal growth restriction and/or death Refer to Chapter 13 for more details. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Infants of Diabetic Mothers (cont.) Increased risk of respiratory distress syndrome High levels of insulin interfere with production of surfactant Hypoglycemia after birth Blood glucose less than 40 mg/dL in term Blood glucose less than 30 mg/dL in preterm Newborn’s pancreas continues to produce increased amounts of insulin. Monitor the newborn’s blood glucose for the first 24 hours after birth; once glucose levels have stabilized, normal feeding can be resumed. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Infants of Diabetic Mothers (cont.) Potential complications Polycythemia Hyperbilirubinemia Hypocalcemia Respiratory distress Macrosomia Birth defects Macrosomia results from maternal hyperglycemia where elevated levels of amino acids and fatty acids, along with hyperglycemia, cross the placenta. It results in accelerated protein synthesis and fat stores. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc. Neonatal Sepsis Infection occurring within the first month after birth Diagnosis is based on clinical presentation and positive blood cultures Most common organisms are Staphylococcus aureus, Staphylococcus epidermidis, Escherichia coli, Haemophilus influenzae, and group B streptococci Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Neonatal Sepsis (cont.) Neonate may initially be seen with Poor feeding Vomiting Diarrhea Lethargy May later show Cyanosis Jaundice Hypothermia Because of immaturity of thermoregulatory center in brain, newborns commonly have low body temperature with an infection; however, they may also demonstrate temperature instability and fever. Review Nursing Care Plan 16-1 (p. 338). Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Prevention of Neonatal Sepsis Starts prenatally with maternal screening Sterile technique maintained through delivery Prophylactic antibiotics to newborn’s eyes Blood counts may show the following: WBCs as high as 30,000/mm3 in the first 24 hours of life; low neutrophil and high immature WBCs may indicate infection. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Management of Neonatal Sepsis Cultures of blood, urine, stool, spinal fluid, and, in some case, IV catheter tips Cultures from areas with drainage (e.g., eyes and umbilical stump) Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Newborn with Effects of Maternal Substance Abuse Newborn may display various physical and neurobehavioral manifestations May be small for gestational age or have congenital anomalies due to maternal substance abuse Refer to Box 16-4 and Table 16-3 (p. 339). What illicit drug is known to contribute to abruptio placentae? Answer: cocaine. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Signs of Neonatal Abstinence Syndrome Respiratory Distress GI Dysfunction CNS Other Stuffy nose Tachypnea Flaring of nares Retractions Apnea Diarrhea Vomiting Frantic sucking Poor feeder Shrill, high-pitched cry Irritability Hypertonicity Tremors Short sleep cycles Occasional seizures Sweating Fever Sneezing Yawning Mottled color Abrasions of elbows and knees Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

The Nurse and the Family of the Newborn at Risk Role of the nurse To provide support by helping parents recognize reality of problem Establish trust in health care provider Dispel misconceptions Mobilize family support systems Help parents participate in newborn care where possible Should also observe family for stages of grief and help them toward reorganization that maintains family cohesiveness and communication. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Discharge Planning and Home Care Begins as soon as disorder or problem is identified Multiple disciplines are involved in the discharge planning and teaching process Requires parental competence with the various equipment, supplies, and care techniques that may be required Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Audience Response System Question 2 Discharge to the home setting for a newborn at risk requires: Multidisciplinary team management Parental competence Approval from the insurance company Support and encouragement Answer: B. If parents are not competent to handle the necessary equipment, such as a pulse oximeter or apnea monitor, harm could come to the infant. They must also know how to perform CPR, administer medications, and be able to attend any follow-up physician visits. Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.

Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc. Review Key Points Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.