Post mortem= baby has dysmorphic face but was negaive for genetic conditions?!?

[jkb]

Hi

I hope someone can help me. I was wondering if anyone has been in the situation we are in now? We lost our beautiful son at 19 weeks gestation back in Nov. We finally got post mortem results last week. No known cause of death. We had a FULL post mortem carried out.

The pathologist said in his report that there is facial dysmophism, with wide set eyes, flattened nose & small jaw. The ears appeared low set & there were bilateral posterior cervical skin folda noted. The rest of his report however said baby was completly normal. Every organ was checked & was normal- no abnormality what so ever- as were all his Chromosomes & so apart from his face looking ODD... he was normal.
The pathologist has however suggested that although his visual findings were limited- he cannot entirely rule out a genetic syndrome & said 'perhaps' we may want to consider genetic testing? ( consultant said they test for several genetic conditions at post mortem & check all babies chromosomes- which like I say all came back normal?- also ... with all genetic conditions my consultant is aware of... there is other problems as well as the facial disfigurement..not just facial dysmorhisim..there would be heart probs or brain abnormalities for example along side it? Our son had no other abnormalities?? It just dosent make sense?? )

Has anyone heard of a genetic condition that ONLY affects the childs face?

This has blown our minds? We have got 2 live children & so our consultant feels we should ignore this as he feels a pathologist cant tell much from the face of a 19 week old fetus? and that alot of them may have dysmorphic features but then grow & end up fine by full gestation... he also said the body wasent looked at by pathologist for 10 days & so may have changed some what? But this is just his guess work- his opinion?

The problem is we now have doubt & cant be sure :-( & im driving myself insane.
We stared TTC again this month & so could already be pregnant!?
We said No to the genetic testing last week (on opinion of our consultant).. but i called back today to say id change my mind?
What can i expect? Can they do genetic tests on us when they have no idea what they are looking for? needle in a hay stack?
Do they take blood at the first appointment?
How long does it take when they are not looking for a specific condition?

Thank u in advance for any advice/experience xxxxxxx

Hello, I'm so sorry for your loss.

I lost my first at 20 weeks and I know how devastating a late loss can be.

I hope you are bearing up.

The PM for my first baby found Ischemia, so probable cause was thought to be a clotting disorder. (But I went on to test negative for clotting, so the final opinion was that the loss was unexplained and 'just one of those things'

Because I then lost my second and third pregnancies to first trimester MC's I was then given a referral to the recurrent MC unit.

The recurrent MC unit are a lot more geared up for things like genetic issues than I found the regular consultant to be and to be honest their advice has been quite different.

They of of the opninon that genetic testing should have automatically been carried out after the first PM on the baby, (it was now too late to do this).

However they did immediately take blood from DH and me to genetic testing on us-Karotyping.

This test involves taking a bog standard small vial of blood and sending it off but the results do take a long time to come back- the consultant told us they take approx 8 weeks to come so they always give a 12 week appointment for the results to make sure they are back in time).

The test examines all our chromosomes for any known abnormalities.

Possibly your consultant thinks with healty DC born already it is unlikely to be a chromosomal issue but I would definitely want it excluded as an issue, if it were me, and certainly based on what the RMC think.

(For my first baby, the RMC consultant thinks it probably was a one-off genetic cause that allowed the baby to look completely healthy at PM but to give it a structural abnormality in the placenta that led to the Ischemia (the original hopsital where i delivered lost the placenta so this was not available at PM- In other words for their to be a genetic cause even though the baby looked otherwise perfect).

Sorry for the very long post, but I hope this answered your questions a little.
I'll probably report this post in a couple of days and ask MN to delete it as I don't want this much personal info sitting around forever, but wanted to try to help.

I wish you every blessing in TTC again (I'm also trying at the moment) and I hope we both get our BFP for 2013 babies.

Thank you so much for taking the time to reply to me xxxxx thats so kind.
Aparently they did do full genetic testing on my baby & its all came back as normal? :-( so confusing.

Did you ever get any results from your genetic tests?

Yes i wish you lots & lots of luck & love to for your BFP xxx

Hi there

Im so sorry for your losses. Afraid I cant offer any advice in terms of your pm findings.

I lost my baby boy at 17 weeks nearly three weeks ago so im currently in that agonising stage of waiting for answers so just blaming myself in the mean time. I dont know whether its better to get a definitive answer or not, either way its torture. Having had a mc and ectopic already I thought maybe id had my bad hand.

I admire you both for starting ttc again. As it's such early days for me its not something I can even consider right now. Thinking I should just be grateful for the beautiful son and daughet Ive already beem blessed with.

When did you decide the time was rigjt for you. I just can't see passed my little boy ive lost and thr big hole in our lives where he was supposed to be.

I hope you get the answers you're lookingfor and the children you deserve.

Xx

We had two consecutive pregnancies that sadly ended at 20 weeks, so you have my sympathy about the loss of your little boy. The first time we didn't opt for a PM, just went straight ahead with funeral etc.

When it happened a second time, we decided to go ahead with the PM. It showed no reason for death, the baby seemed perfect in every way. Having said that, the face of a 20 week baby does look a little different from a full-term infant, so perhaps that's what they meant?

We were referred to a geneticist but I don't remember much of what happened at the appointment. To be honest, the whole of that year is a bit of a blur. I do remember that at the second delivery the midwives took what seemed like about ten vials of my blood for testing. The whole thing was so painful and sad and I feel for all of you who have been through similar.