|Year : 2019 | Volume
| Issue : 1 | Page : 18-21
Edwards' syndrome: A case study
College of Nursing, Christian Institute of Health Sciences and Research, Dimapur, Nagaland, India
|Date of Web Publication||09-Oct-2019|
Mrs. Cecilia Katasi
Christian Institute of Health Sciences and Research, 4th Mile, P.O. ARTC, Post Box - 31, Dimapur, Nagaland
Source of Support: None, Conflict of Interest: None
Edwards' syndrome, also known as trisomy 18, is a rare genetic disorder caused by the presence of extra 18th chromosome. Most babies with this condition die before or shortly after being born. Some children with this disorder rarely may survive beyond 1 year or into adulthood. Their growth and development is severely hampered. They have severe mental and life-threatening physical disabilities. A child with trisomy 18 is usually born with low birth weight, associated with heart defects and other abnormalities such as micrognathia, clenched fist with overlapping fingers, short sternum and club foot. There is no definitive treatment for babies with Edwards' syndrome. It is very challenging and difficult for parents to take care of a child with trisomy 18, so it is important for parents to get support from healthcare providers to provide the best quality of life for the child.
Keywords: Edwards' syndrome, genetic disorder, trisomy
|How to cite this article:|
Katasi C. Edwards' syndrome: A case study. Indian J Cont Nsg Edn 2019;20:18-21
| Introduction|| |
Edwards' syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of extra 18th chromosome. It is named after John H. Edwards, who first described the syndrome in 1960. It is the second most common trisomy after trisomy 21 (Down syndrome). The syndrome occurs in about one out of every 5000 births. Edwards' syndrome affects more girls than boys – around 80% of those affected are females. Women older than the age of 30 have a greater risk of bearing a child with the syndrome, although it may also occur with women younger than 30.
| Pathophysiology|| |
Each cell in the body normally contains 23 pairs of chromosomes, but a baby with Edward's syndrome has three copies of chromosome number 18, instead of two. The presence of this extra chromosome in the cells severely alters the normal development. Edwards' syndrome is rarely inherited. The development of three copies of chromosome 18 usually happens at random during the formation of either the egg or sperm.
Mosaic trisomy 18
Mosaic trisomy 18 can be a less severe form of Edwards' syndrome, as only some of the cells have the extra copy of chromosome 18, rather than every cell. This form of trisomy 18 is rare.
Partial trisomy 18
In partial trisomy 18, the child has only a part of an extra chromosome 18. The extra part may be attached to another chromosome (called translocation). This type of trisomy 18 is also very rare.
Full trisomy 18
This is the most common type of trisomy 18. The extra chromosome is in every cell of the baby's body.
| Clinical Manifestations|| |
The following manifestations are commonly found in children with Edwards' syndrome.
- Intrauterine growth retardation
- A small, abnormally shaped head
- A small jaw and mouth
- Clenched fists with overriding fingers
- Low set ears, microtia
- Short sternum
- Cleft lip and palate
- Heart defects
- Kidney defects
- Smooth feet with rounded soles
- Club feet
- Neurodevelopmental delays.
Common anomalies seen in trisomy 18
Frequent occurrence >50%
- Cardiac defects
- Clenched hands with the index finger overlapping the 3rd and 5th over the 4th finger
- Joint contractures
- Low arch dermal ridge (shallow fingerprints)
- Occipital prominence of the back of the head
- Shortened big toe.
Less frequent occurrence (10%–50%)
- Absent or defective thumb development
- Cleft lip or palate or both
- Deviation of hand at ulna or radius
- Kidney defects
Low occurrence (<10%)
- Diaphragmatic hernia
- Dislocated hip
- Ocular defects
- Radial aplasia.
| Diagnosis|| |
Although most of the clinical features indicate a diagnosis of the condition, the following diagnostic tests are performed to have a definitive diagnosis.
- Prenatal diagnostic tests include maternal serum alpha-foetal protein analysis or screening, amniocentesis, ultrasonography, foetal echocardiography and chorionic villus sampling
- Postnatal diagnostic test involves fluorescence in situ hybridisation analysis, haematological studies and karyotyping
- A physical examination of the infant to detect physical abnormalities those are characteristic to the syndrome
- Chest X-rays can show a shortened breast bone.
| Prognosis|| |
The majority of children who are born with Edwards' syndrome do not live past their first year of life. Their average lifespan for half of the children born with this syndrome is <2 months; approximately 90%–95% of these children die before their first birthday. The 5%–10% of children who do survive their 1st-year experience severe developmental disabilities. Children who live past their first year require walking support and their ability to learn is limited. They do not develop effective verbal communication but are able to respond to comforting and have the ability to learn to smile, recognise and interact with caregivers and others. They can acquire skills such as self-feeding and rolling over.
| Management|| |
There is no definitive treatment for children with trisomy 18. Treatment for trisomy 18 consists of supportive medical care to provide the child with the best quality of life possible. A careful risk assessment for the individual patient and collaboration between healthcare professionals and parents is recommended.
| Nursing Management: A Case Study|| |
Nursing management of a baby with trisomy 18 is discussed using a case study and nursing process approach. A preterm new-born at 34 weeks was born to G2P1 L1 mother by precipitate labour at home. The baby cried soon after birth, but the cry was weak. Antenatal care was obtained at a secondary hospital. Mother was antenatally diagnosed with pregnancy-induced hypertension. On arrival to casualty, the baby was cyanosed and was transferred immediately to neonatal intensive care unit (NICU) with O2 at 1 l/min via nasal prong. On arrival to NICU, the baby was lethargic, but the body was pink. The baby was tachypnoeic with SpO2-88%. She was then started on intravenous antibiotics, intravenous fluids and supplemental oxygen.
On further examination baby was found to have dysmorphic features; she had deformed left ear, micrognathia [Figure 1], clinodactyly. Baby also showed signs of intrauterine growth retardation [Figure 2] and hypertonia [Figure 3]. Cardiovascular examination revealed the presence of systolic murmur with signs of congestive cardiac failure such as tachypnoea, tachycardia and coarse basal crepitation. Echocardiography was done that showed the presence of complex cyanotic heart disease. Hence she had been prescribed with anti-heart failure medications, oxygen, antibiotics and other supportive care in the NICU. She was also started on inotropic support in the form of dobutamine infusion. The baby was noted to have hypertension and pneumonia for which medical management was initiated.
|Figure 2: Evidence of intrauterine growth retardation, short sternum and malformed small ear.|
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Her condition improved, and she was shifted out of the NICU to the paediatric ward at 21 days of life. She was however kept on supplemental oxygen. She continued to have symptoms of heart failure despite medications and even developed features of pulmonary hypertension and therefore remained oxygen dependent. Tablet sildenafil was advised to alleviate pulmonary hypertension.
The diagnosis of Edward's syndrome was confirmed by karyotyping which showed extra chromosome 18 (trisomy 18) [Figure 4].
Parents were informed of the condition of the child, and the prognosis was also explained to them. Parents requested discharge on the 27th day of life. The potential risks and prognosis were explained to the parents, and the baby was discharged on request. Consent was obtained from parents to publish patient care details for scientific purposes.
Nursing care is discussed elaborately using nursing process approach.
Nursing diagnosis: Decreased cardiac output related to decreased myocardial function secondary to heart failure
The new-born has adequate cardiac output, as evidenced by pink mucous membrane and nail beds, a capillary refill time of <2 sec, warm extremities, easily palpable peripheral pulses, adequate urinary output, no oedema, appropriate heart rate and an activity level within the normal limits of the defect.
- Monitored peripheral perfusion by palpating peripheral pulses, noting temperature, colour changes and capillary refill time
- Determined whether heart rate is appropriate for level of activity
- Intake and output are monitored and documented
- Maintained a neutral thermal environment using a warmer bed for the neonate
- Responded quickly to stressful events such as crying and when the baby was restless
- Administered tablet digoxin once daily as prescribed. Apical count was taken for full 1 min. The baby was observed for signs of toxicity such as slow pulse, vomiting and arrhythmias
- Administered injection dobutamine through infusion pump.
Her mucous membranes and nail beds were pink. Capillary refill time was <2 s. Peripheral pulses were easily palpable, and baby's activity was within normal limits of the defect. Apical heart rate maintained at 154 beats/min. Hence, optimal cardiac output is maintained.
Nursing diagnosis: Ineffective breathing pattern related to pulmonary congestion, decreased lung expansion secondary to congenital heart disease and pulmonary hypertension
The infant will demonstrate a respiratory rate within normal limits and a normal respiratory effort. She will have satisfactory rest periods and will remain pink.
- Monitored respiratory rate and rhythm, the presence or absence of retractions or nasal flaring, the use of accessory muscles and the presence or absence of crackles or rhonchi
- The head end of the bed was elevated to 15°
- Humidified oxygen was given at 3 l/min via oxygen hood
- Nursing interventions were planned to allow maximum rest and feeding was given when she was rested
- Monitored blood gas levels and provided supplemental oxygen via hood at 3 l/min
- Administered tablet sildenafil Q6H for pulmonary hypertension.
Respiratory rate was 46 breaths/min. Mucous membrane and nail beds were pink. She was able to breathe easily. An appropriate amount of rest was obtained. Optimal breathing pattern is maintained.
Nursing diagnosis: Imbalanced nutrition: Less than body requirements related to poor feeding secondary to cardiac dysfunction
The infant will have better nutritional status but limited improvement due to child's disease condition.
- Weighed the infant daily by using the same weighing scale
- Expressed breast milk was given through nasogastric tube 20 ml/2 hourly (130 ml/kg/day) along with a drop of coconut oil
- The feeding was timed to 2 hourly to allow adequate rest
- Monitored for feeding intolerance.
The child was able to tolerate the feeds. No weight loss was noted. Optimal nutritional status was ensured.
Nursing diagnosis: Compromised family coping related to infant's illness
The parents will exhibit effective coping as evidenced by verbalisation of their concerns about the impact of the infant's illness on the family and utilisation of support system.
- Taught parents the warning signs of problems and how to access emergency care
- Encouraged the parents to verbalise their feelings and also express their concerns. Questions were answered honestly and openly
- Assessed for spiritual distress and referred the family to the hospital chaplain for support.
Parents adhered to the treatment plan. They verbalised appropriate concerns and questions. Their coping had improved.
| Conclusion|| |
There is no cure for Edwards' syndrome and the symptoms can be very difficult to manage. Treatment will focus on the conservative management of life-threatening issues. Depending upon child's specific problems, they may need specialist care in the hospital. Caring for a child with Edwards' syndrome is mentally and physically challenging. Parents will need social and psychological support.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Jones KL, Jones MC, Del Campo M. SPEC-Smith's Recognizable Patterns of Human Malformation, 12-Month Access, eBook: Expert Consult-Online and Print. China: Elsevier Health Sciences; 2013.
[Figure 1], [Figure 2], [Figure 3], [Figure 4]