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Trisomy 18 syndrome, pediatric
Terms in this set (21)
Second most common multiple malformation syndrome
Full trisomy 18 involves extra (third) copy of chromosome 18 in each cell; partial trisomy 18 with varying phenotypes and translocation types also reported
Accompanied by intrauterine growth retardation, congenital heart defects, microcephaly, and other malformations in most infants, including a small, abnormally shaped head; a small jaw and mouth; and clenched fists with overlapping fingers
Full trisomy 18 syndrome generally fatal, with 95% of those affected dying in utero; 30% to 50% of live births die within the first 2 months, 90% die within the first year
Most surviving patients profoundly mentally retarded
Also known as Edwards' syndrome
Most cases of trisomy 18 result from spontaneous meitotic nondisjunction, affecting the extra copy of chromosome 18 in each cell.
Chromosomal abnormality (extra copy of chromosome 18)
Advanced maternal age (mean maternal age 32.5)
Trisomy 18 is the second most common autosomal trisomy disorder after trisomy 21 (Down syndrome), with an estimated incidence of 1 in 6,500 live births In the United States.
The majority of cases occur in females.
Approximately 50% of affected infants die within the first week of life; approximately 5% to 10 % survive the first year.
Congenital heart defects (in 80% to 90% of cases), such as ventricular septal defect, tetralogy of Fallot, and transposition of the great vessels, which is the cause of death in many infants
Other congenital anomalies, such as diaphragmatic hernia, various renal defects, omphalocele, neural tube defects, genital and perineal abnormalities (including imperforate anus), and oligohydramnios
Advanced maternal age
Prenatal amniotic fluid abnormalities
Growth retardation, which begins in utero and remains significant after birth
Short, narrow nose with upturned nares
Low-set, simplified ears
Conspicuous clenched hand with overlapping fingers (commonly seen on ultrasound)
Choroid plexus cysts (also seen in some normal infants)
Two-vessel umbilical cord
Anencephaly, microcephaly, or hydrocephaly
Short neck with excessive skin folds
Short palpebral fissures
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, and unconjugated estriol.
Complete blood count reveals thrombocytopenia, neutropenia, and anemia.
Diagnostic Test Results-Imaging
A prenatal ultrasound commonly reveals variable abnormalities in the fetus.
Diagnostic Test Results-Diagnostic Procedures
Amniocentesis or chorionic villus sampling identifies the chromosomal defect.
Emotional support and counseling for the family
Nutrition maintenance using gavage feedings
Antibiotics for infections, such as otitis media, bronchitis, pneumonia, or urinary tract infections
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
function at the highest level possible and appear comfortable
verbalize feelings related to loss of ideal neonate 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.
Evaluate the family for depression, anxiety, or other mental health concerns.
Administer prescribed antibiotics for infection as indicated.
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 child. 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 grieving; arrange for spiritual counseling and support if the family desires.
Fluid balance, including intake and output
Growth and development
Parental coping and grieving
Nursing Considerations-Associated Nursing Procedures
Chorionic villi sampling, assisting
Gavage feeding, neonate
Health history interview and physical assessment, pediatric
Neonatal heart rate assessment
Neonatal size measurements
Oral drug administration
Protective environment (PE) guidelines
Pulse 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.
Teach the family what to expect in providing care for the infant.
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