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Edward's syndrome diagnosis
By Dr Joe Kabyemela, MD
Edward’s syndrome is a chromosomal disorder where there is an extra chromosome on pair number 18; hence it is called "Trisomy 18". Edward’s syndrome is characterized by a variety of severe physical and organic defects. The baby may die in the womb or could be delivered alive, only to die a few weeks later. It is virtually unknown for an Edward's syndrome baby to survive beyond twelve months. The active advice, when the diagnosis is made during pregnancy, is to terminate the pregnancy. The final decision, of course, rests with the mother.
Edward's syndrome risk and maternal age
As with Down's, the risk for Edward’s syndrome increases with advancing maternal
age. At 20, the risk is estimated at around 1 in 3600; twenty years later, the risk
has shot up to 1 in 200, an 18-
Screening tests for Edward's syndrome
The screening tests used for Down’s syndrome are just as good in detecting Edward’s syndrome. The hormones are variably affected in this condition as well, so suspicion could be triggered following a "double" or "triple" test.
Even if these tests do not arouse suspicion, the detailed anatomy scan at 18-
The physical and organic defects associated with the condition are almost always there and relatively easy to detect using ultrasound. An invasive test will still be needed to confirm the diagnosis.
Survival prospects for an Edward's syndrome baby
The prognosis for a baby with Edward’s syndrome are invariably bleak. The possibility of a stillbirth is high and for those that are born alive, the majority will survive for days at most. It is exceedingly rare for a child with Edward’s syndrome to reach their first birthday. Survival into adulthood is unknown.
