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Annals of Biological Research, 2014, 5 (3):67-72

(http://scholarsresearchlibrary.com/archive.html) ISSN 0976-1233

CODEN (USA): ABRNBW

67

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Edward syndrome (Trisomy 18): A case report

Ezhil Arasi Nagamuthu and Neelala Neelaveni

Department of Pathology, Osmania Medical College, Hyderabad, Andhra Pradesh, India_____________________________________________________________________________________________

ABSTRACT

The trisomy 18 syndrome (Edwards syndrome) is an autosomal chromosomal disorder due to the presence of an

extra chromosome 18. The main clinical features include prenatal growth retardation, characteristic craniofacial

features, distinctive hand posture, nail hypoplasia, short hallux, short sternum and major malformations of heart.

One such case at 22-24 weeks of gestation was terminated and its case report was illustrated with the phenotypic

features and fetal autopsy. The demonstration of an extra chromosome 18 on the karyotype added to the clinical

diagnosis.

Keywords: Trisomy 18; Edwards syndrome; Chromosomal disorder; Rockerbottom feet; Karyotype.

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INTRODUCTION

The Trisomy 18 syndrome (Edwards syndrome) is a common autosomal chromosomal disorder due to the presence

of an extra chromosome 18. The first reported infants were described in 1960 by Edwards et al. and Smith et al.

Trisomy 18 represents the second most common autosomal trisomy syndrome after trisomy 21 (Down syndrome).1, 2

Karunakaran and Pai reported the first case in the Indian literature in 1967.3

The syndrome pattern comprises a recognizable pattern of major and minor anomalies, an increased risk of neonatal

and infant mortality, and significant psychomotor and cognitive disability. The main clinical features represent the

clues for the diagnosis in the perinatal period and include prenatal growth retardation, characteristic craniofacial

features, distinctive hand posture (overriding fingers), nail hypoplasia, short hallux, short sternum. Internal

anomalies, particularly involving heart are common. The demonstration of an extra chromosome 18, or less

commonly a partial trisomy of the long arm of chromosome 18, on the standard G-banded karyotype allows for

confirmation of the clinical diagnosis. [1, 2]

A 23 years old Primi gravida with gestational age of 22-24 weeks reported at Modern Government Maternity

Hospital/ Osmania Medical College, Hyderabad , Andhra Pradesh, India.. The ultrasound scanning showed

ventriculomegaly, absent corpus callosum, rockerbottom feet. In view of multiple congenital anomalies, the couple

decided to undergo termination of pregnancy. Later, the foetus was sent for autopsy.

On external examination, the foetus showed prominent occiput, lumbar meningocele (Fig. 1), hypertelorism, low set

fawn like ears (Fig. 2), rockerbottom feet (Fig. 3), clenched hands with overlapping fingers (Fig. 4).

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After autopsy, the organs were fix

were given for tissue processinghaematoxylin and eosin.

elala Neelaveni Annals of Biological Rese

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MATERIALS AND METHODS

d in 10%formalin for processing. After gross analy

.Sections were processed routinely with paraffin e

Figure 1: Prominent Occiput & Lumbar meningocele

Figure 2: Hypertelorism & Low set fawn like ears

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sis representative sections

bedding and stained with

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Figure 3: Rockerbottom feet

Figure 4: Clenched hands with overlapping fingers

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Figure 5: Agenesis of right kidney

Fig. 6: Sections of left kidney

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The histopathological examination

tubules.

The cytogenetic work up was done

The diagnosis of Trisomy 18 (Ed

low set fawn like pointed ears, clen

of ventriculomegaly, absent corpus

Trisomy 18 is a chromosomal diso

organ malformations. Trisomy 18 i

The live birth prevalence of trisom

1 in 6,000.2,4

The prevalence at birt

It is well known that trisomy 18 pr

are made in the prenatal period b

amniocentesis, or detection of so

pregnancy termination in a significa

Genetic counseling: When prenatal

be realistic, but not desolate. The p

but they have to be prepared for bo

family with a child with complete tr

The available literature and our e

confirm clinical diagnosis and to ex

It helps to identify unexpected anofamily planning, genetic counsellin

elala Neelaveni Annals of Biological Rese

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of the sections of the left kidney show normal dev

Fig. 7: Cytogenetic map

o identify the chromosomal aberration. It showed tris

ard syndrome) was based on the findings of hyperte

ched hands with overlapping fingers, rocker bottom f

callosum. The cytogenetic karyotype of trisomy 18 co

RESULTS AND DISCUSSION

rder resulting in a syndrome characterized by specifi

s also called as Edward Syndrome or Trisomy E.

18 ranges from 1/3600 to 1/10,000 with the best ove

h is higher in females compared to males (F:M %, 60.

egnancies have a high risk of fetal loss and stillbirth

ased on screening by maternal age or maternal se

nographic abnormalities during the second and th

nt percentage of cases.1,2,5

or neonatal diagnosis of trisomy 18 is made, the coun

rents can find it difficult to accept the lack of certain

h the probability of death and the possibility of livin

isomy 18 is usually stated as 1%.2

CONCLUSION

perience support the fact that careful pathological

plain the cause of intrauterine fetal demise.

alies that may provide further clues to a diagnosticg for future pregnancies.

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lopment of glomeruli and

my 18.

lorism, prominent occiput,

ot and ultrasound findings

nfirmed the diagnosis.

c dysmorphic features and

all estimate in livebirths as

4).2,5

. Currently most diagnoses

um marker screening and

ird trimester followed by

seling of the family should

y of the newborn situation,

. The recurrence risk, for a

examination of foetus can

yndrome and also assist in

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REFERENCES

[1]Carey JC: Trisomy 18 and trisomy 13 syndromes. In Management of genetic syndromes. 3rd edition. Edited by

Cassidy SB, Allanson JE. New York: John Wiley & Sons; 2010:807823.[2]Cereda A, Carey JC: Orphanet Journal of Rare Diseases20127:81.

[3]Bharucha BA, Agarwal UM, Savliwala AS, Kolluri RR, Kumta NB.J Postgrad Med1983;29:129-32.

[4]Taylor AI.:J. Med. Genet., 5: 227-252, 1968.

[5]Rosa RF, Rosa RC, Zen PR, Graziadio C, Paskulin GA.Rev Paul Pediatr2013;31(1):111-20.