edward syndrome
Post on 23-Dec-2014
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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.
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