Tuesday, March 06, 2012

Holoprosencephaly At 12 Weeks

Last Friday, my very first patient waited anxiously since 8 in the morning. Aku ni start kerja pukul 8.30 pagi, memang la aku rajin kan nak datang awal? Nak pulak kalau jarak rumah dengan hospital tempat aku kerja tu, kentut pun boleh dengar.

Agak annoying bila makcik kaunter kata yang she keep on coming back and forth tanya bila nak start scan sedangkan dia datang awal. Ish. Ni lah masalah with some patient. Diorang tak suka tunggu. I don't mind diorang datang awal, in fact aku lagi suka. Tapi masalah tunggu menunggu ni memang la perkara biasa kat hospital. You can't expect people to see you on the spot. Even hospital yang berbayar pun kena tunggu jugak ok. Apatah lagi yang free kan?

*Tetibe melencong*

Anyway, berbalik kepada my first patient ni, when I called her in my room she was so nervous. She told me that was so sick last week that she took couple tablets to ease the flu and cough, include antibiotic.

I asked her to lie down the examination couch and start looking for the baby. There it was a baby with heart beat. She was relieved, in fact she cried out of joy. I continued with what I need to do. CRL measured correspond with 12 weeks. Nuchal thickness was normal. Both hands and legs seen. Baby's head was alright and normal stomach seen. Sambil scan tu, aku dok bercerita la apa yang tengah tengok. I told her roughly looks all right.

But I guess, I spoke to soon. I was almost finish with the scan when suddenly I decided to do a final check on the baby's head and brain. There was something not right about the brain. I did not appear as it should normally. The brain doesn't look complete.

Since, the baby's head was down and the mother quite a big lady, I explained all the situation and suggested internal scan through vagina. Off course le patient cuak. Provided I am not very sure with what's the abnormality that I am dealing with (though I'm quite convinced that it might be something related with holoprosencephaly), it did not help much.

*Holoprosencephaly is the condition where the forebrain of embryo, prosencephalon failed to develop and divide into 2 hemispheres.

Nah. It's alobar holoprosencephaly!!

*Taken with Iphone and has been edited with Instagram*

It was not just that. Further scan with the feto-maternal consultant revealed a polydactyl and small exomphalus. All these findings consistent with genetic disease called Patau's syndrome or Trisomy 13. But we are still waiting for the CVS result.

The prognosis for this condition normally very poor and fatal, especially for alobar holoprosencephaly. Most of the baby usually died before the were born or few minutes afterbirth.

The cause of this condition still unclear. Mostly it is genetic related though there were evidences of some cases with non-genetic factors.

I do felt a bit of guilty. Ye lah, after you told them that everything looks all right and suddenly you have to break the bad new, rasa bersalah tu still lingering myself. I can't even look at their face.

At the same time jugak rasa bersyukur sebab tergerak nak check further when I was actually almost finish with the scan. It is better to find out the abnormality at 12 weeks than later at 20 weeks. Lagi haru jadinya!

When I was a student sonographer, books and teachers told me that the most important things to check or to do at 12 weeks are: viability, number of fetus, dating, and nuchal thickness. So, to check for abnormality tu tak termasuk pun dalam protocol. Tapi bila dah start kerja ni, my seniors selalu pesan jangan takes everything for granted. Always check up to max within the limits of the view. Which means, selagi boleh check, selagi boleh tengok, check dan tengok betul-betul. Walaupun patient tu nanti akan datang balik untuk anomaly scan at 20 weeks, better find out now than later.

Tapi tu lah, dalam dok berhati-hati and gave all my very best, there were few cases of missed diagnosis. I always hard on myself because for me, there is no room for mistake and misdiagnosed is not an option.

But then again, I am just a human. Bak kata pepatah, to error is human. Kalau asyik kau je betul ala-ala miss-know-it-all or miss wikipedia bergerak pun nanti orang menyampah jugak khennn? *ttbe melalut~

To a friend who just lost a baby recently, my heart goes for you.


Pok Amai-Amai said...


Agak2, ape yg jdk kat baby tu ade hubungkait dgn ubat yg die mkn tu ke?


Nani @ Yani said...

Izuan..selalu baca blog u..ni baru nak komen :D

Member saya,pernah pregnant dan doktor sahkan anak dalam kandungan ada sindrom Patau. Tak berapa minit lepas bersalin, baby meninggal..

Seronok baca entri u..ada info dan humor..Keep it up

*Ini bukan komen bodek tau *

book seller said...

ala...sian dia..apapun, Encik Dr dah buat yang terbaik kan... :)

Anonymous said...

Hi, I landed upon your blog after I googled for info on Holoprosencephaly..

Actually my son was also diagnosed with HPE when I was pregnant to him. He's 4yo now and pls let the patient know that not everything ended up badly.

My son, of course is facing a lot of handicapness but he's on his way to walking.. Dah crawling merata tempat and can definitely walk with a rollator..

He's cute and smart in his own way. Does things that other kids did.

Main. Gaduh ngan Adik. Swim and whatnot.