1. The Newborn at Risk: Acquired and Congenital Conditions
Chapter 16
The Newborn at Risk:
Acquired and Congenital Conditions
Review chapter objectives.
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2. Chromosomal Disorders
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3. 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.
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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.
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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).
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6. 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.
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7. 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
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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.
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9. 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.
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10. Inborn Errors of Metabolism
May not always manifest at birth
Screening tests important for early detection
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11. 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
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12. 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.
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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.
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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
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15. 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
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16. 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 ) listing more common congenital anomalies.
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17. 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.
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18. 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
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19. 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
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20. 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.
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21. 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
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22. 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.
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23. 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
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24. 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
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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.
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26. 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
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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).
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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.
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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.
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30. Respiratory Disorders
Respiratory distress syndrome
Meconium aspiration syndrome
Transient tachypnea of the newborn
Persistent pulmonary hypertension of the newborn
Sepsis
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31. 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).
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32. 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).
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33. 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.
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34. 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.
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35. 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.
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36. 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.
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37. 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).
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38. Common Congenital Defects
Associated with uncontrolled hyperglycemia throughout pregnancy
Defects include
Congenital heart defects
Tracheoesophageal fistulas
CNS anomalies
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39. 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.
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40. Effects on the Newborn’s Metabolism
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41. 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.
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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.
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43. 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.
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44. 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.
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45. 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.
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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
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47. 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).
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48. 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.
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49. 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)
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50. 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.
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51. 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
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52. 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.
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53. 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
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54. 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.
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Review Key Points
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