Re: AF-AFP 16MoM, U/S, Echo, and AF-AchE negative- what next?
From: art fougner, md (evsono@pipeline.com)
Fri Oct 26 10:58:31 2007
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Why not consult with a Maternal-Fetal Medicine specialist at a Tertiary
Referral Center if you're in the US? The problem may not necessarily be
something wrong with the fetus.
Art
At Thu, 25 Oct 2007, F Chiramel MD, PhD wrote:
>
>Hello all:
>
>I apologize for posting a personal question here. I am an MD, PhD, and
>although not an OB/Gyn, I am finding myself doing most of the research
>on this case.
>
>My wife's (29 y/o, first conception, no h/o miscarriages) MSAFP at 16
>wks came elevated at 5.3 MoM. AFAFP done at 18 wks was 16 MoM, and
>negative for AchE. The pregnancy up to the MSAFP results was completely
>unremarkable. A detailed US at 17.5 weeks was negative for fetal
>anomalies (a nuchal at 11.5 weeks had also been normal- fetal size in
>both USs were right on the average for getstaional age). At this point,
>our OB told us that, despite the 16MoM AFAFP, the pregnancy would likely
>progress normally as nothing specific can be found.
>
>I found on researching the internet that these findings could be present
>in congenital nephrosis of finnish type (CNF), an autosomal recessive
>condition, predominantly documented in Finnish patients, which presents
>with in utero proteinuria. The condition is almost always fatal in the
>first year of life, usually at 3 months.
>
>We next consulted with a geneticist, who agreed regarding the
>possibility, and we are pursuing investigations, but there seems to be
>very little info out there. If there was a way we could know for sure,
>and depending on what more we find about the prognosis of the condition,
>termination is a possibility.
>
>A fetal echo and repeat US done today (21 weeks) was also normal, with
>teh caveat that US findings in CNF can be normal till late pregnancy,
>when echogenic kidneys and a large placenta can be seen.
>
>We are a non-consanguineous couple of (east) Indian ancestry, with no
>known family history of CNF. We have also sent out amniocytes for NPHS1
>and NPHS2 gene sequencing (the two genes documented as being mutated in
>CNF), but are limited by the fact that maybe not all CNF mutations are
>known, especially in Indian patients, and also that it will take 2-3
>week to get results.
>
>I was wondering if anybody here has had experience with a CNF pregnancy,
>or with such elevated AFAFPs in a normal preganancy, or any other
>possible explanations for the situation. I have devoured the literature
>on CNF, but for some reason I am not hearing anecdotal experiences among
>OBs or patients, on teh internet or elsewhere. We are planning a repeat
>amnio next week, to see if AFAFP levels have changed. Any ideas and
>suggestions are welcome. Thanks for reading this long post.
>
>--
>F Chiramel
>
--
art fougner, md
"May The Wings of Liberty Never Lose a Feather." - Jack Burton
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- In reply to: F Chiramel MD, PhD: "AF-AFP 16MoM, U/S, Echo, and AF-AchE negative- what next?"
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