Edwards syndrome - WordPress.com€¦ · Edwards syndrome •The syndrome pattern Comprises of...

Presented by

Amrutha Ramakrishnan Nair

Edwards

syndrome

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.

SMALL

MOUTH AND

JAW

SMALL

NECK

SHIELD CHEST

SHORT

STERNUM

WIDE

NIPPLES

PROMINENT

OCCIPUT

DYSPASTIC

EARS

CLENCHED

HANDS

PROMINENT

HEELSFLEXED

BIG TOE

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

Short

palpebral

fissures micrognathia

anomalies

of the ears

skin at

the back of

the neck

small

fingernails,

underdevelop

ed

thumbs

short

sternum

club feet

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.