Edward's
syndrome
Jonas Løland, Karolin Mäde
Generally:
• Trisomy 18 (Edwards syndrome)
• chromosomal condition, affects multiple parts of the body
• intrauterine growth retardation & low birth weight
• heart defects and abnormalities of other organs
• small,abnormally shaped head with a small jaw and mouth
• clenched fists with overlapping fingers
• Lifespan rarely lasts 1 month after birth (only 5-10 percent of
affected children live past their first year while often having severe
intellectual disability)
Incidence
• Occurs in about 1 in 5,000 live-born infants
• Around 80% of those affected are female
• Many affected fetuses do not survive to term
• Women of all ages can have a child with trisomy 18
• As the woman gets older, the possibility of having a child with
this condition increases
Types
• 95% of children with Edward's syndrome have full-trisomies
• 2% are due to trans-locations → only a portion of an extra
chromosome is present (partial Edward's syndrome)
• The extent of impairment of the baby depends on which part of
chromosome 18 is present in their cells
• 3% of children with Edward's syndrome have 'mosaic trisomies'
(extra chromosome is not in every one of the child's cells)
• Usually milder expression, depending on amount and type of cells affected
• With this type of Edward's syndrome, the life span can even reach up to
adulthood in some cases
Symptoms
The majorityof children appear fragile and weak; many are underweight
Their heads are unusually small, while the backs of their heads are prominent.Their earsare low-set and
malformed,and their mouthsand jaws are small, a conditionreferred to as, 'micrognathia.' Babieswith the
syndrome may experience acleft palate or lip. Their hands are often clenched into fists, with their index
finger overlapping their other fingers.Babies with Edward's syndrome can have clubfeet,as well as toes that
may be fused or webbed.
Children with the syndrome can experience problemswith their lungs and diaphragm,and blood vessels
which are malformed.Theymaypresent with a number of types of congenital heart disease,to include atrial
septic defect,ventricular septal defect,or patent ductus arteriosus.Children with the syndrome might have
an inguinal or umbilical hernia,abnormalitiesof their urogenital
Screening for Edward's syndrome
• Women are offered screening for Edwards' syndrome
between 10 & 14 weeks of pregnancy
• This screening test is a combined test and it works out the
chance of a baby having Edwards' syndrome, Down's
syndrome and Patau's syndrome (it includes a blood test and
an ultrasound scan to assess nuchal translucency)
• Identification of the type of Edward's syndrome is not possible
here
Diagnosing of Trisomy 18 during pregnancy
• If the combined test indicates a relatively higher chance of the
baby having Edward's syndrome, more diagnostic (and
invasive) tests are conducted to check for an extra copy of
chromsome 18:
• Chorionic villus sampling (sample from placenta)
• Amniocentesis (sample of amniotic fluid)
Treatment of Edward's syndrome
• There is no cure, only
management of the
symptoms
• Heart conditions
• Breathing difficulties (apnea,
pulmonary hypertension)
• Infections (pneumonias,
sinusitis,ear/ eye infections,
UTIs)
• Surgical interventions might
be limited due to the child's
cardiac health
• Palliative care mostly
• Feeding difficulties
• Use of a nasogastric tube may
be necessary
• Constipation due to poor abd
ominal muscle tone
Prognosis
• The majority do not live past their first year of life
• Average lifespan for half of the children born with this syndrome is
less than two months
• Children who do survive their first year experience severe
developmental disabilities,require walking support and their
ability to learn is limited
• Their verbal communication abilities are limited although they are
able to respond to comforting and have the ability to learn to
smile, recognize and interact with caregivers and others
• They can acquire skills such as self-feeding and rolling over
Sources
• https://www.nhs.uk/conditions/ed
wards-syndrome/
• https://www.youtube.com/watch?v
=EFP671hzciI&vl=en
• https://ghr.nlm.nih.gov/condition/t
risomy-18
• https://www.disabled-
world.com/disability/types/edwar
ds-syndrome.php
• Pathoma
• https://edwardssyndromeinfo.wee
bly.com/birth-defects-and-
characteristics.html
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