JOANN SEBASTIAN

GCZ 002
HT: 120420478002
Content
Introduction
Clinical Manifestations
Diagnosis
Prognosis
Epidemology
Case Study
Discussion
Conclusion
What is
Edward Syndrome?
Trisomy 18

chromosomal abnormality
also known as tri­somy 18, is a ge­netic dis­or­der
caused by the pres­ence of a third copy of all or
part of chro­mo­some 
named after Dr. John Hilton Edwards
Tri­somy 18 (47,XX,+18) is caused by a mei­otic
nondis­junc­tion event
Edward Syndrome
Trisomy 18

rate of disease increases with mother's age

most cases of Edwards syndrome occur due to
problems during the formation of the
reproductive cells or during early development
Edwards syndrome occurs in around 1 in 5,000
live births
some studies suggest that more babies that
survive to birth are female
 Trisomy 18

Full Trisomy 18 Partial Trisomy 18 Mosaic Trisomy 18

extra chromosome 18
is in every cell chromosome 18

the child has only part of extra extra chromosome 18

in some of baby's cells
Clinical
Manifestations
Babies with trisomy 18 are often born very small and
frail. They typically have many serious health
problems and physical defects, including:

Cleft palate
Defects of the lungs, kidneys, and
stomach/intestines
Feeding problems
Severe developmental delays
Chest deformity
Slowed growth
Low set ears, micortia
Small head (microcephaly)
Small jaw (micrognathia)
Weak cry
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 hybridization

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

Lev­els of PAPP-A, AFP, uE3, free β-hCG, all of which

are gen­er­ally de­creased dur­ing pregnancy.
.
Prognosis

The majority of children who are born with Edwards' syndrome

do not live past their first year of life.

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.
Epidemology
Ed­wards syn­drome oc­curs in about one in 5,000 live births, but
more con­cep­tions are af­fected by the syn­drome be­cause the
ma­jor­ity of those di­ag­nosed with the con­di­tion pre­na­tally will
not sur­vive to birth.

Al­though women in their 20s and early 30s may con­ceive ba­-
bies with Ed­wards syn­drome, the risk of con­ceiv­ing a child with
it in­creases with a woman's age.

The av­er­age ma­ter­nal age for con­ceiv­ing a child with this dis­or­-
der is 32½.
 Case Study
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 clinodactyly.
Baby also showed signs of intrauterine growth retardation and hypertonia.

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.

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)
Discussion
Clinical Symptomes
Decreased cardiac output
Ineffective breathing pattern related to pulmonary congestion
Imbalanced nutrition
Low energy

Baby's Symptomes
small head
low birth weight
abnormal deviation of fingers
absence of one or both testes
clenched hands

Karyotyping was done to confirm the syndrome

and it was revealed that the baby had trisomy at
18th chromosome ie; EDWARDS SYNDROME
Conclusion
Treatment for trisomy is supportive, meaning that the condition cannot be cured and treatments at directed at prolonging and
managing complications. Treatment will focus on the conservative management of life-threatening issues such as heart
conditions, breathing difficulties and infections. Depending upon child's specific problems, they may need specialist care in the
hospital.

Edwards' syndrome has an impact on your baby's movements as they get older, and they may benefit from supportive treatment
such as physiotherapy and occupational therapy. Caring for a child with Edwards' syndrome is mentally and physically challenging.

Parents will need social and psychological support.

Baby may also need to be fed through a feeding tube, as they can often have difficulty feeding.
Depending on baby's specific symptoms, they may need specialist care in hospital, or you may be able to look after them at home
with the right support.