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Trisomy 13 syndrome, pediatric
Terms in this set (18)
Third most common multiple malformation syndrome
In most affected infants, full trisomy 13 present at birth; rarely, mosaic partial trisomy 13 syndrome (with varying phenotypes) or translocation types will appear
Characterized by brain and facial abnormalities; major cardiac, GI, and limb malformations are also typical
Also known as Patau's syndrome
About 75% of all cases result from chromosomal nondisjunction.
About 20% of all cases result from chromosomal translocation, involving a rearrangement of chromosome 13 with another chromosome.
About 5% of all cases are estimated to be mosaics; the clinical effects in these cases may be less severe.
Chromosomal abnormality (extra copy of chromosome 13)
Advanced maternal age
Almost one-half of pregnancies involving trisomy 13 end in spontaneous abortion, fetal demise, or stillbirth.
The disorder is estimated to affect 1 in 10,000 live births.
The average survival of neonates born with trisomy 13 is 2.5 days; only one in 20 infants survives to age 6 months
All survivors have profound mental retardation.
Congenital heart defects: Hypoplasticleft heart, ventricular septal defect, patent ductus arteriosus, or dextroposition, which may significantly contribute to the cause of death
Structural brain malformations
Microphthalmia, cataracts, and other eye abnormalities
Advanced maternal age
Prenatal history of intrauterine growth restriction or oligohydramnios
Failure to thrive
Sloping forehead with wide sutures and fontanels
Scalp defect at the vertex
Bilateral cleft lip with associated cleft palate
Flat, broad nose or underdeveloped nose or nostrils
Low-set ears and inner ear abnormalities
Polydactyl hands and feet
Neural tube defects
Congenital heart defects
Diagnostic Test Results-Laboratory
A karyotype, done either prenatally or on peripheral blood lymphocytes or skin fibroblasts in a neonate or an aborted fetus, is diagnostic.
Results are abnormal in multiple-marker maternal serum screening tests involving different combinations of alpha-fetoprotein, human chorionic gonadotropin (HCG) or free beta-HCG in some laboratories, and unconjugated estriol.
Diagnostic Test Results-Imaging
A prenatal ultrasound usually reveals multiple abnormalities in the fetus.
Nursing Considerations-Nursing Diagnoses
Compromised family coping
Decreased cardiac output
Delayed growth and development
Impaired gas exchange
Risk for imbalanced fluid volume
Nursing Considerations-Expected Outcomes
seek support systems and exhibit adequate coping behaviors
maintain adequate cardiac output and hemodynamic stability
function at the highest level possible and appear comfortable
verbalize feelings of loss and poor prognosis
maintain adequate ventilation and oxygenation
maintain an adequate fluid balance.
Nursing Considerations-Nursing Interventions
Provide supportive care as indicated by the infant's condition.
Maintain the infant's fluid balance. Assist with administration of fluids and feedings as appropriate based on the infant's condition.
Position the infant comfortably.
Provide meticulous skin care and frequent turning.
Allow adequate time for the parents to bond with and hold their infant. Point out positive aspects of the infant, and role model positive coping strategies. Encourage the parents to participate in the infant's care to the extent possible.
Provide developmentally appropriate stimulation and interaction with the infant.
Allow the parents and family to verbalize feelings related to the infant's condition. Encourage questions and discussions about the condition, provide clear explanations, and answer questions.
Provide emotional support to the family. Assist the family in the grieving process.
Fluid balance, including intake and output
Growth and development
Parental coping and grieving
Nursing Considerations-Associated Nursing Procedures
Blood pressure assessment, pediatric
Health history interview and physical assessment, pediatric
Intake and output assessment
Oxygen administration, nasal prongs, neonate
Oxygen administration, nasopharyngeal catheter, pediatric
Pressure ulcer prevention
Pulse assessment, pediatric
Pulse oximetry, pediatric
Respiratory assessment, pediatric
Respiratory rate assessment, neonate
the disorder, diagnosis, underlying cause, and treatment, including the poor prognosis for the infant and the need for supportive care
the care required by the infant, such as feeding and skin care
activities that can be carried out with the infant to foster growth and development
positive coping strategies
the importance of grieving
coping strategies, including appropriate sources of support.
Patient Teaching-Discharge Planning
Refer the parents of an affected infant for genetic counseling to explore the cause of the disorder and to discuss the risk of recurrence in future pregnancies.
Refer the parents to a social worker or grief counselor for additional support if needed.
Refer the parents to the Support Organization for Trisomy 18, 13, and Related Disorders (S.O.F.T.) national support program to allow them to interact with other parents of infants with trisomy 18 and trisomy 13.
Refer the family to pediatric home health care or hospice services, if available.
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