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 HEELS

FLEXED BIG TOE

smooth 'rocker bottom' feet (with a rounded base)

clenchedfist with overriding fingers (index finger overlapping thethird and 5th finger overlapping the 4th

dolicocephaly

Short palpebral fissures micrognathia

anomalies of the ears

skin atthe back of the neck

small fingernails, underdevelopedthumbs

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 childhoodand in adolescence; she lived to 19 years of age and

achievedmultiple 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.