Edwards

syndrome
Presented by
Amrutha Ramakrishnan Nair
Edwards syndrome

• The trisomy 18 syndrome, also

known as Edwards syndrome
• Common autosomal chromosomal
disorder
• Presence of an extra chromosome
18.
Edwards syndrome

• The syndrome pattern Comprises of

• major and minor anomalies,
• an increased risk of neonatal and
infant mortality,
• significant psychomotor and
cognitive disability.
Prevalence at birth

• higher in females compared to males

Epidemiology
• Trisomy 18 is the second most
common autosomal trisomy
syndrome after trisomy 21.
• 1 in 6,000 BIRTHS
Types

1. Regular or full (severe) –

• this is when every cell in the body
has three copies of chromosome 18
• 94% of cases
Types

• 2. Mosaic (less severe) –

• when some cells have the usual two
copies and some have three copies
of chromosome 18.
• The extent and severity of the
condition will depend on how many
cells have the extra copy of
chromosome 18
• 5%
Types

• 3. Partial –
• when there is an extra copy of only
a part of chromosome 18.
• The effects of this may be milder
ETIOLOGY

• The extra chromosome is present

because of non disjunction
• methylene tetrahydrofolate reductase
gene (MTHFR)
• Polymorphisms in mothers
• Advancing maternal age.
• A small positive association of
paternal age
 PATHOGENESIS
• caused by a genetic abnormality
• before conception, when egg and sperm
cells are made.

• A healthy egg or sperm cell contains 23

individual chromosomes
• one to contribute to each of the 23 pairs
of chromosomes needed to form a
healthy, 46 chromosome cell.
PATHOGENESIS

sometimes egg and sperm cells

are left with 24 (or more)
chromosomes.
joining of these egg or sperm cells

a trisomy fetus to be formed.

Clinical description

• Prenatal growth deficiency

• Specific craniofacial features
• minor, major malformations,
• marked psychomotor and cognitive
developmental delay
Clinical description

• The growth delay starts in prenatal

period and continues after the birth
• Associated with feeding problems
that may require enteral nutrition.
 PROMINENT
OCCIPUT
SMALL
MOUTH AND DYSPASTIC
JAW EARS
SMALL
NECK WIDE SHORT
NIPPLES STERNUM
SHIELD CHEST

CLENCHED
HANDS

FLEXED PROMINENT
BIG TOE HEELS
smooth 'rocker
bottom' feet
(with a
rounded base)
clenched
fist with overriding fingers (index
finger overlapping the
third and 5th finger overlapping the
4th
 dolicocephaly
anomalies
of the ears Short
palpebral
fissures micrognathia
skin at
the back of
the neck
 short
sternum

small
fingernails,
club feet underdevelop
ed
thumbs
Cardiovascular

• 80%-100%
• ventricular and atrial septal defects,
patent
• ductus arteriosus and polyvalvular
disease
 RESPIRATORY
• upper airway obstruction
• (in some case due to a
laryngomalacia or
tracheobronchomalacia)
• and central apnea
• Ophthalmologic
• Ears and hearing
• Musculoskeletal
• Genitourinary
• Neoplasia
• Neurologic
 CENTRAL NERVOUS SYSTEM
• cerebellar hypoplasia,
• agenesis of corpus callosum,
• polymicrogyria,
• spina bifida
• craniofacial orofacial clefts
• eye microphthalmia,
• coloboma, cataract,
• corneal opacities
Gastrointestinal
abnormalities
omphalocele,
oesophageal atresia
tracheo-oesophageal fistula,
umbilical or inguinal hernia
imperforate anus,
pyloric stenosis.
DIAGNOSIS

• PHYSICAL FEATURES

• XRAY

• ECHO

• KARYOTYPING
Antenatal diagnosis

• maternal serum analysis

• human chorionic gonadotropin,
unconjugated estriol,and alpha-
fetoprotein are significantly lower,
• amniocentesis,
• chorionic villus sampling.
ULTRASONOGRAPHY

• FIRST TRIMESTER SCREENING

• (nuchal translucency, pregnancy-
associated plasma protein and free
beta-hCG)
• SECOND TRIMESTER
• quadruple screening
• (serum alpha-fetoprotein, total hCG,
unconjugated estriol and inhibin A)
ULTRASONOGRAPHY

• growth retardation,
• polyhydramnios,
• “strawberry-shaped” cranium
• (brachycephaly and narrow frontal
cranium),
ULTRASONOGRAPHY

• overlapping of hands fingers (second

and fifth on third and fourth
respectively),
• congenital heart defects,
• omphalocele, single umbilical artery
• The prevalence of growth retardation
and polyhydramnios increases with
gestational age
• Trisomy 18 pregnancies have a high
risk of fetal loss and stillbirth
Survival after birth and
neonatal management
• There is a high percentage of fetuses
dying during labor (38.5%), and the
preterm frequency (35%)

• Approximately 50% of babies with

trisomy 18 live longer than 1 week,
and 5-10% of children survive
beyond the first year
Causes of death

• Central apnea,
• cardiac failure due to cardiac
malformations
respiratory insufficiency due to
• hypoventilation,
• aspiration,
• upper airway obstruction
Growth and feeding

• Prenatal growth retardation 1700-1800

g
• Weight and height < the third centile in
the postnatal period
• feeding difficulties
• sucking and swallowing problems
• Gastroesophageal reflux
• pneumonia
• and aspiration
Developmental and behavior

• Developmental delay is always

present
• marked to profound degree of
psychomotor and intellectual
disability
• slow gaining of some skills
• Expressive language and
independently walk are not achieved
 A young lady with full trisomy 18 in early childhood
and in adolescence; she lived to 19 years of age and
achieved
multiple milestones, including sitting and walking in a
walker.
How Is it Treated?
• There is no cure for Edwards
syndrome.
• Ninety to 95 % of all babies born
with it die within a year of birth.
• The few infants that do survive
need special treatment--ranging
from muscular therapy to nervous
system and skeletal corrections--
for their various handicaps.
MANAGEMENT

• nutritional support,
• treatment of infections,
• transfusions for low blood cell
counts,
• medications such as diuretics
and/or digoxin to manage heart
failure
MANAGEMENT

• Health supervision and management

• follow-up visits
• anticipatory guidance
• immunizations
Can Trisomy 18 Be Passed to
Future Generations?

• Trisomy 18 is caused by non-

disjunction,
• it cannot be passed on to future
generations.