Wednesday, March 17, 2010

Trisomy 18

A retrospective entry.
Child was born on 14th March, boy, term but small for gestational age.Birthweight 2.11kg.
Clinically suggestive of Edward's syndrome,presenting with:
Trisomy hands
Low sets ears
Rockerbottom feet
small lower jaw
imperforated anus
heart murmurs

Baby was kept nil by mouth, solely on drip and it has to be monitored strictly as he doesn't have a patent anus for bowel output.So, we had to aspirate the stomach contents before it reached the large bowel.
So, he has to get surgery for the imperforated anus, but the question was, was he operable?


We sent his chromosomal study to Bertam and off we went to get an ECHO for his heart viability.
The father was along with us, the mother was not.SHE, was ill.



Well,i would say it was soulful moment for me, the father to meet the peadiatric cardiologist.
ECHO showed Pulmonary atresia, VSD and large PDA.


In view baby's condition(imperforated anus), heart pathology and his chromosomal quiry, such perplexing uncertainties were very much a torment..
As long as the ductus arteriosus remained open under prostaglandin, he could stil undergo colostomy surgery.As for the heart, Edward's syndrome is not viable for any cardiac intervention..

I could feel the air static, humming of the air-con and ticking of the Dr A was explaining the pathology of the heart and what outcome and prognosis would he foresee.. her eyes teared.And the small one was lying in the incubator, sleeping peacefully .

we left the clinic after 3 hours.Baby shall continue his drip and KIV for surgery..

Baby was not patient enough..he couldn't stand the stress, and amount of drip given to support him but yet lethally brutal..
Took his last breath at 7.25am the next morning.='(
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