1. Chapter 21 The Newborn at Risk: Congenital Disorders

2. The Newborn at Risk: Congenital Disorders
Problems that occur during fetal development and are present in the infant at birth
Include malformations or congenital anomalies
Inborn errors of metabolism
A crisis for parents and caregivers
Family caregivers experience a grief response
Siblings should be allowed to visit

3. Congenital Malformations
May be caused by genetic or environmental factors
Anomalies include
Defects of the central nervous system
Cardiovascular
Gastrointestinal
Genitourinary
Skeletal systems

4. Central Nervous System Defects
Spina bifida: Failure of the posterior laminae of the vertebrae to close; generally in the lumbosacral region
Clinical manifestations
Spina bifida occulta
Spina bifida with meningocele
Spina bifida with myelomeningocele

5. Central Nervous System Defects (cont.)
Spina bifida (cont.)
Diagnosis
Elevated maternal alpha-fetoprotein (AFP) levels (testing typical)
Ultrasonographic examination of the fetus
Best time to perform these tests: 13 to 15 weeks’ gestation, when peak levels are reached
May include magnetic resonance imaging (MRI), ultrasonography, computed tomography (CT), and myelography

6. Central Nervous System Defects (cont.)
Spina bifida (cont.)
Treatment
Specialists may include neurologists, neurosurgeons, orthopedic specialists, pediatricians, urologists, and physical therapists
Highly skilled nursing care is necessary in all aspects of the newborn’s care
Surgery is required to close the open defect

7. Nursing Process for the Newborn with Myelomeningocele
Assessment
Selected nursing diagnoses
Outcome identification and planning: Preoperative care
Implementation
Preventing infection; promoting skin integrity
Preventing contractures of lower extremities
Promoting family coping
Providing family teaching
Evaluation: Goals and expected outcomes

8. Question
What is one of the major nursing interventions with a newborn who has a myelomeningocele? a. Family teaching b. Preventing hydrocephalus c. Preventing contractures of the upper extremities d. Family interactions

9. Answer a. Family teaching
Rationale: Give family members information about the defect and encourage them to discuss their concerns and ask questions. Provide information about the newborn’s present state, the proposed surgery, and follow-up care. Remember that anxiety may block understanding and processing knowledge, so information may need to be repeated. Provide information in small segments to facilitate learning.

10. Central Nervous System Defects (cont.)
Hydrocephalus: Excess of cerebrospinal fluid (CSF) within the ventricular and subarachnoid spaces of the cranial cavity
Occurs before sutures close, manifesting a rapid increase in head circumference
CSF level maintenance
Entire volume absorbed/replaced every 12 to 24 hours
Formation: Lateral ventricles (primarily)
Absorption: Via arachnoid villi in venous system
Circulation: Within ventricles and subarachnoid space

11. Central Nervous System Defects (cont.)
Hydrocephalus (cont.)
Noncommunicating type: Obstruction occurs preventing CSF communication between the ventricles and spinal cord
Causes increased pressure on the brain or spinal cord
Communicating type: No CSF flow obstruction, defect in CSF absorption
May or may not be recognized at birth

12. Central Nervous System Defects (cont.)
Hydrocephalus (cont.)
Clinical manifestations
Excessively large head at birth
Rapid head growth with widening cranial sutures
Anterior fontanelle becomes tense and bulging
Unless hydrocephalus is arrested
Newborn becomes increasingly helpless
Symptoms of increased intracranial pressure (IICP) develop

13. Central Nervous System Defects (cont.)
Hydrocephalus (cont.)
Diagnosis: CT, MRI
Further definition: Echoencephalography and ventriculography
Treatment
Surgical intervention: Shunt placement
Ventriculoperitoneal, ventriculoatrial shunting
All types of shunts may have problems
Long-term outcome factor dependent

14. Nursing Process for the Postoperative Newborn with Hydrocephalus
Assessment
Selected nursing diagnoses
Outcome identification and planning
Implementation
Preventing injury; promoting skin integrity
Preventing infection
Promoting growth and development
Reducing family anxiety; providing family teaching
Evaluation: Goals and expected outcomes

15. Cardiovascular System Defects: Congenital Heart Disease
Defects range from mild to severe; severe abnormalities incompatible with life
Technologic advances have progressed rapidly in this field
Development of the heart
Fetal circulation is unique; fetal lungs are inactive
Ductus arteriosus
Foramen ovale
Ductus venosus

16. Cardiovascular System Defects: Congenital Heart Disease (cont.)
Common types of congenital heart defects
Traditional classification system: Inadequate
Current, more precise classification system (based on blood flow characteristics)
Increased pulmonary blood flow
Obstruction of blood flow out of the heart
Decreased pulmonary blood flow
Mixed blood flow

17. Cardiovascular System Defects: Congenital Heart Disease (cont.)
Common types of congenital heart defects (cont.)
Ventricular septal defect: Most common intracardiac defect
Abnormal opening in septum between ventricles
Cyanosis does not occur unless pulmonary hypertension is present
Corrective surgery: High rate of success in first year of life; surgery may be postponed until 18 to 24 months of age

18. Cardiovascular System Defects: Congenital Heart Disease (cont.)
Common types of congenital heart defects (cont.)
Atrial septal defects: An abnormal opening between the right and left atria
Left-to-right shunting
May occur as isolated defects or in combination with other heart anomalies
Amenable to surgery

19. Cardiovascular System Defects: Congenital Heart Disease (cont.)
Common types of congenital heart defects (cont.)
Patent ductus arteriosus: Vascular channel remaining open between left main pulmonary artery and descending aorta
Symptoms of patent ductus arteriosus are often absent during childhood
Machinery-like pulmonary murmur; wide pulse pressure; bounding pulse
Treatment: Prevention (Indocin); surgery

20. Cardiovascular System Defects: Congenital Heart Disease (cont.)
Common types of congenital heart defects (cont.)
Coarctation of the aorta: Constriction or narrowing of the aortic arch or descending aorta (usually adjacent to the ligamentum arteriosum), obstructing blood flow through the aorta
No symptoms until later childhood or young adulthood; developing congestive heart failure (CHF)
Symptoms; hypertension in the upper extremities and hypotension in the lower extremities
Treatment: Surgery

21. Cardiovascular System Defects: Congenital Heart Disease (cont.)
Common types of congenital heart defects (cont.)
Tetralogy of Fallot: Grouping of four heart defects; fairly common
Pulmonary stenosis; ventricular septal defect
Overriding aorta; right ventricular hypertrophy
Most common defect causing cyanosis, may be precyanotic in early infancy
Severity of symptoms conditional; “tet spells”
Diagnostics
Treatment: Surgery; Blalock–Taussig procedure

22. Cardiovascular System Defects: Congenital Heart Disease (cont.)
Common types of congenital heart defects (cont.)
Transposition of the great arteries: Aorta rises from right ventricle; pulmonary arises from left ventricle
Advances in diagnosis and treatment: Increased survival rate
Risk factors for congenital heart defects
Maternal alcoholism; maternal irradiation
Drugs used during pregnancy; maternal malnutrition
Maternal diabetes; maternal rubella; heredity
Advanced maternal age (>40 years)

23. Cardiovascular System Defects: Congenital Heart Disease (cont.)
Clinical manifestations
Newborn with a severe cardiovascular abnormality is cyanotic from birth
Less seriously affected child may not have symptoms severe enough to call attention to the difficulty
Cardiac murmur
Manifestations of CHF may appear during the first year of life

24. Cardiovascular System Defects: Congenital Heart Disease (cont.)
Treatment and nursing care
Significant advances in medical technology
Surgery: As soon as possible
Early diagnosis and correction/repair may avoid CHF
If child has CHF, treatment is imperative
Care at home before surgery: Allowed as normal life as possible
Routine visits to a clinic or a physician’s office become a way of life

25. Cardiovascular System Defects: Congenital Heart Disease (cont.)
Treatment and nursing care (cont.)
Cardiac catheterization
May be performed before heart surgery
Carefully monitor the site used and check the extremity for pulses, edema, skin temperature and color, and any other signs of poor circulation or infection
Pressure dressing is used over the catheterization site
Preoperative preparation: Family teaching

26. Cardiovascular System Defects: Congenital Heart Disease (cont.)
Treatment and nursing care (cont.)
Cardiac surgery
Open-heart surgery using the heart–lung machine
Hypothermia
Postoperative care
Pediatric intensive care unit
Child needs encouragement and reassurance

27. Question
What is the most common cardiac defect causing cyanosis? a. Coarctation of the aorta b. Transposition of the great vessels c. Patent ductous arteriosus d. Tetralogy of Fallot

28. Answer
d. Tetralogy of Fallot Rationale: Tetralogy of Fallot is a fairly common congenital heart defect involved in 50% to 70% of all cyanotic congenital heart diseases.

29. Gastrointestinal System Defects
Cleft lip and cleft palate: Defects resulting from fusion failure of primary and secondary palates
Most common facial malformations
Cleft lip: 1 in 1,000 live births; more commonly male
Cleft palate: 1 in 2,500 live births, more commonly female
Appear genetically influenced; no genetic history possible
Either defect may appear alone

30. Gastrointestinal System Defects (cont.)
Clinical manifestations
Cleft lip: May be a simple notch in vermilion line, or extend up into nasal floor; either unilateral or bilateral
Cleft palate: May be small opening or involve entire palate
Cleft palate occurs with a cleft lip about 50% of the time, most often with bilateral cleft lip
Child born with a cleft palate but with an intact lip
No external disfigurement; problems are more serious; often accompanied by nasal deformity and dental disorders

31. Gastrointestinal System Defects (cont.)
Diagnosis: Physical appearance of newborn confirms diagnosis
Treatment
Surgery
Total care involves many specialists
Plastic surgeon; pediatricians; nurses
Orthodontists; prosthodontists
Otolaryngologists; speech therapists; psychiatrists (occasionally)
Long-term, intensive, multidisciplinary care

32. Gastrointestinal System Defects (cont.)
Treatment (cont.)
Must be observed constantly
Higher than normal risk of aspiration
Repair goal: Provide a union of cleft parts, allowing intelligible/pleasant speech; avoid injury to maxillary development
Optimal time for surgical repair: 6 months to 5 years of age

33. Nursing Process for the Newborn with Cleft Lip and Cleft Palate
Assessment
Selected nursing diagnoses
Outcome identification and planning: Preoperative care
Implementation
Maintaining adequate nutrition
Promoting family coping
Reducing family anxiety
Providing family teaching

34. Nursing Process for the Newborn with Cleft Lip and Cleft Palate (cont
Outcome identification and planning: Postoperative care
Implementation
Preventing aspiration and improving respiration
Monitoring fluid volume
Maintaining adequate nutrition
Relieving pain
Preventing postoperative injury

35. Nursing Process for the Newborn with Cleft Lip and Cleft Palate (cont
Implementation (cont.)
Preventing infection
Care of lip suture line
Promoting sensory stimulation
Providing family teaching
Evaluation: Goals and expected outcomes
Preoperative
Postoperative

36. Question
Tell whether the following statement is true or false. The optimal time for repairing a cleft palate is between 6 months and 5 years of age.

37. Answer
True Rationale: The optimal time for surgical repair of the cleft palate is considered to be between 6 months and 5 years of age.

38. Gastrointestinal System Defects (cont.)
Esophageal atresia and tracheoesophageal fistula: End of the esophagus ends in a blind pouch; lower (or distal) segment from the stomach is connected to the trachea by fistulous tract (TEF)
Atresia is the absence of a normal body opening or abnormal closure of a body passage
Esophageal atresia (EA) with or without fistula into the trachea is a serious congenital anomaly
Among the most common anomalies causing respiratory distress
Often occur in premature newborns

39. Gastrointestinal System Defects (cont.)
Esophageal atresia and tracheoesophageal fistula (cont.)
Clinical manifestations
Frothing, excessive drooling, and periods of respiratory distress with choking and cyanosis
No feeding should take place until the newborn has been examined
If feeding is attempted, the newborn chokes, coughs, and regurgitates as the food enters the blind pouch
Newborn becomes deeply cyanotic and appears to be in severe respiratory distress

40. Gastrointestinal System Defects (cont.)
Treatment and nursing care
Surgical intervention is necessary to correct the defect
Intravenous fluids to maintain optimal hydration
Regular follow-up is necessary
Observe for and dilate esophageal strictures that may be caused by scar tissue

41. Gastrointestinal System Defects (cont.)
Imperforate anus: Rectal pouch ends blindly at a distance above the anus; there is no anal orifice
Clinical manifestations
Alteration in appearance/absence of anal opening
Absence of first meconium stool
Abdominal distention

42. Gastrointestinal System Defects (cont.)
Diagnosis: Definitive diagnosis by radiographic studies
Treatment
Minor defect: Repair from below
High defect: Abdominoperineal resection is indicated
Colostomy is performed; extensive abdominoperineal resection is delayed until ≥3 months of age
Nursing care
Family teaching

43. Gastrointestinal System Defects (cont.)
Hernias: Abnormal protrusion of an organ (or portion thereof) through a weak spot or other abnormal body wall opening; complications occur dependent upon circumstances
Diaphragmatic hernia: Abdominal organs are displaced into left chest through a diaphragmatic opening
Heart is pushed toward the right, left lung is compressed resulting in rapid, labored respirations; cyanosis
Surgery is essential

44. Gastrointestinal System Defects (cont.)
Hernias (cont.)
Hiatal hernia: Cardiac portion of the stomach slides through normal esophageal hiatus into area above diaphragm
More common in adults than in newborns
Reflux of gastric contents into the esophagus and subsequent regurgitation
Surgery may be necessary

45. Gastrointestinal System Defects (cont.)
Hernias (cont.)
Omphalocele: Some abdominal contents protrude through umbilical root and form a sac lying on the abdomen; sac is covered with peritoneal membrane instead of skin
Intervention at birth: Saline-moistened gauze
Surgical replacement of the organs into the abdomen may be difficult; other congenital defects often are present
Surgery may be postponed and the surgeon will suture skin over the defect, creating a large hernia

46. Gastrointestinal System Defects (cont.)
Hernias (cont.)
Umbilical hernia: Incomplete closure of fetal end of the umbilical cord
Portions of omentum and intestine protrude through the opening
More common in preterm and African American newborns
Largely a cosmetic problem, with little or no morbidity
Rare: Strangulation; surgery indicated

47. Gastrointestinal System Defects (cont.)
Hernias (cont.)
Inguinal hernia: Small sac of peritoneum surrounding testes fails to close off after testes descend into the scrotum
Intestine becomes trapped (incarcerated)
Circulation to the trapped intestine is impaired (strangulated)

48. Question
When an infant is born with an omphalocele, what nursing care is done right away? a. Contents replaced in abdominal cavity b. Covered with gauze moistened in sterile saline c. Plastic wrap is placed directly over defect to conserve heat d. Infant swaddled in blankets so mother can hold him or her

49. Answer
b. Covered with gauze moistened in sterile saline Rationale: At birth, the defect should be covered immediately with gauze moistened in sterile saline, which then may be covered with plastic wrap to prevent heat loss.

50. Genitourinary Tract Defects
Hypospadias: Congenital condition where the urethra terminates on the ventral (underside) surface of the penis
Chordee extends from scrotum to penis, pulling penis downward
Boy cannot void while standing in the normal male fashion
Surgical repair desirable from ages of 6 to 18 months

51. Genitourinary Tract Defects (cont.)
Epispadias: Urethra terminates on the dorsal (top) surface of the penis
Often occurs with exstrophy of the bladder
Surgical repair is indicated

52. Genitourinary Tract Defects (cont.)
Exstrophy of the bladder: Urinary tract malformation, usually accompanied by other anomalies
Anterior surface of urinary bladder lies open on lower abdomen, allowing direct passage of urine to the outside
Exposed mucosa is red, sensitive to touch
Surgical closure of the bladder is preferred within 48 hours of birth
Final surgical correction completed before child enters school

53. Genitourinary Tract Defects (cont.)
Exstrophy of the bladder (cont.)
Family teaching
Gender of the child may be determined only by a chromosome test
Nursing care
Preventing infection; preventing skin irritation
Meeting newborn’s need for touch and cuddling
Family support and teaching during this difficult event

54. Genitourinary Tract Defects (cont.)
Ambiguous genitalia: External sexual organs are either incompletely or abnormally formed
May not be possible to determine by observation if the child is male or female
Important to establish the genetic gender and the gender of rearing as early as possible
Anatomical structure, rather than the genetic gender, should determine the gender of rearing
Complete surgical repair not possible
Parental support and teaching

55. Skeletal System Defects
Family may face long periods of exhausting, costly care
Congenital talipes equinovarus: Congenital clubfoot; cause is unclear
Clinical manifestations: Fixed deformity, not “position of comfort”
Treatment
Nonsurgical treatment: Manipulation, bandaging; cast application
Surgical repair: When unresponsive to nonsurgical treatment
Prolonged observation after correction necessary

56. Skeletal System Defects (cont.)
Congenital hip dysplasia: Defective development of the acetabulum permits head of femur to displace upward and backward; difficult to recognize during early infancy
Clinical manifestations
Early recognition and treatment
Barlow sign and Ortolani maneuver
Asymmetry of the gluteal skin folds
Limited abduction of the affected hip
Apparent shortening of the femur

57. Skeletal System Defects (cont.)
Congenital hip dysplasia (cont.)
Treatment
Correction may be started in the newborn period
Pavlik harness
Open reduction, followed by application of spica cast

58. Nursing Process for the Newborn in an Orthopedic Device or Cast
Assessment
Selected nursing diagnoses
Outcome identification and planning
Implementation
Providing comfort measures
Promoting skin integrity
Providing sensory stimulation
Providing family teaching
Evaluation: Goals and expected outcomes

59. Question
Ortolani maneuver is used to aid in the diagnosis of what? a. Talipes equinovarus b. Pavlik disease c. Congenital hip dysplasia d. Barlow disease

60. Answer
c. Congenital hip dysplasia Rationale: Experienced examiners may detect an audible click when examining the newborn using the Barlow sign and Ortolani maneuver.

61. Inborn Errors of Metabolism
Hereditary disorders affecting metabolism
Phenylketonuria: Lacking enzyme that normally changes the essential amino acid phenylalanine into tyrosine Untreated: Causes severe mental retardation in most affected children
Clinical manifestations: Frequent vomiting; aggressive and hyperactive traits
Diagnosis: Most states require newborn blood test to measure phenylalanine level
Treatment: Dietary intervention is required
Nursing care: Family/child support, teaching

62. Inborn Errors of Metabolism (cont.)
Galactosemia: Metabolic disorder where enzyme needed to convert galactose to glucose is missing
Clinical manifestations: Early feeding difficulties with severe vomiting and diarrhea, weight loss, jaundice
Treatment and nursing care
Omit galactose from diet
Appropriate infant formulas
Nutramigen; Pregestimil

63. Inborn Errors of Metabolism (cont.)
Congenital hypothyroidism: Congenital absence of a thyroid gland or inability to secrete thyroid hormone
Clinical manifestations: Signs/symptoms start to appear at about 6 weeks of life
Depressed nasal bridge; large tongue
Puffy eyes; thick, short neck; dry, cold skin
Chronic constipation; abdominal enlargement
Diagnosis: Most states require a routine testing for triiodothyronine (T3) and thyroxine (T4) levels
Treatment and nursing care: Thyroid hormone must be replaced as soon as the diagnosis is made

64. Inborn Errors of Metabolism (cont.)
Maple syrup urine disease: Error of metabolism of the branched chain amino acids; rapidly progressive, often fatal
Clinical manifestations: Occur very early with feeding problems, neurologic signs
Urine has a distinctive odor of maple syrup
Diagnosis: Routine newborn blood test
Treatment and nursing care: Dietary
Special diet must be continued indefinitely

65. Chromosomal Abnormalities
Down syndrome: Presence of trisomy 21, etc.; most common chromosomal anomaly
Screenings: Low maternal serum alpha-fetoprotein levels, high chorionic gonadotropin levels indicate possibility; amniocentesis; chorionic villus sampling
Clinical manifestations: All forms of the condition show a variety of abnormal characteristics
Almond-shaped eyes with epicanthic fold; single horizontal palm crease; mental abilities vary
Treatment and nursing care: Physical anomalies determine medical, nursing management

66. Chromosomal Abnormalities (cont.)
Turner syndrome: Having one less X chromosome
Characteristics: Short stature; low-set ears; broad- based, short neck; low-set hairline on neck; broad chest; increased angle of the arms; hand/feet edema
Normal intelligence
Klinefelter syndrome: Extra X chromosome present (characteristics not evident until puberty); most common in males
Characteristics: Atypical physical sexual development; behavior issues; difficulty with memory and processing; often of normal intelligence
Treatment: Testosterone hormone injections in early teens