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
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Miscarriage/pregnancy loss
Post mortem= baby has dysmorphic face but was negaive for genetic conditions?!?
5 replies
jkb · 28/01/2013 20:32
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