Re: AF-AFP 16MoM, U/S, Echo, and AF-AchE negative- what next?
From: Meenan, Anna (annam@uic.edu)
Fri Oct 26 16:33:52 2007
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Had a patient who had elevated MSAFP in 3 out of 4 pregnancies (I
don't remember what the MoM was, though) and all 4 of her babies were
normal. She skipped the amnio on the last one.
Ana Meenan, MD
>I have seen one patient who had this exact same scenario in 2
>pregnancies. FWIW, both of them turned out normal.
>
>Dan
>
>On 10/26/07, art fougner, md
><<mailto:evsono@pipeline.com>evsono@pipeline.com> wrote:
>
>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
>
>--
>R. Daniel Braun, MD FACOG(L) CMT
>Professor Emeritus
>Dept. of Obstetrics and Gynecology
>Indiana U. School of Medicine
>
>R. Daniel Braun
>
> "Science without Religion is LAME; Religion without Science is BLIND"
> Einstein 1941
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- Reply: Joanne Bulley, MD: "Re: AF-AFP 16MoM, U/S, Echo, and AF-AchE negative- what next?"
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