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Re: Pena-Shokeir Syndrome
From: Andrea (anonymous@obgyn.net)
Fri, 13 Apr 2001 18:29:09 -0500 (CDT)
Thanks for your reply. I went into spontaneous labor the following
week. We did not have an autopsy. What we need now is the how and why.
You have obviously had experience of this syndrome, would you be able to
direct us to more information? Do you know of anybody conducting
research into this? In the UK the information is limited. A UK
organisation specialising in rare syndromes had not had contact from
anyone about it for 6 years. As the only thing keeping us going is the
hope of a normal pregancy in the future, we really need some statistics
as we understand that there is 25% chance of recurrence and no one is
able to tell us if it is genetic or sporadic.
Regards
Andrea Svarca
At Wed, 14 Mar 2001, Lynn D. Montgomery, MD wrote:
>
>At Wed, 14 Mar 2001, Andrea wrote:
>>
>>I am from the UK and am 29 weeks pregnant with my second child. My baby
>>girl has just been diagnosed as having a form of arthogryposis such as
>>Pena-Shokeir syndrome (polyhydramnios, fixed limbs, scalp oedema,
>>micrognathia, pleural effusion). I have been advised that my options
>>are a termination with an injection into the baby's heart or waiting to
>>go into labour naturally and letting the baby die without medical
>>intervention. Obviously both options are pretty unacceptable. I have
>>been told that an induction will not be performed.
>>
>>As my first child is perfectly healthy, can anybody give me some advice
>>on whether the diagnosis sounds accurate and if so what will happen with
>>the baby at birth - will she die immediately or will it take days?
>>
>>I would be grateful for some urgent replies!
>
>I am very sorry to hear of your recent discovery. Based on your
>description, the diagnosis sounds consistent. The duration of life is
>variable following delivery. I will pray for you in making this
>decision...
>Lynn
>
>--
>Lynn D. Montgomery, MD
>Director, Maternal-Fetal Medicine
>Rocky Mountain Perinatal Center
>Missoula, Montana
>
>**Note: Opinions expressed here are for educational purposes only and, as such, do not constitute a physician-patient relationship. This information is not intended to supplant the need for you to consult with your physician prior to choosing therapeutic options and/or interventions.
>
>**Private e-mails cannot be entertained due to time constraints, consequently no private e-mails will receive a response.
>
>**Thank you for your understanding ;-)
>
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