Re: AF-AFP 16MoM, U/S, Echo, and AF-AchE negative- what next?
From: F Chiramel (fchiramel@gmail.com)
Tue Oct 30 04:40:16 2007
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Thanks Joanne for sharing.
Didn't quite follow this: "0 up in that 15 MOM are"...pls elaborate.
Comments here have helped us realize that very high MoMs can exist with
normal outcomes too....which does not come across well in the
literature.
At Mon, 29 Oct 2007, Joanne Bulley, MD wrote:
>
>My (now deceased) partner's daughter-in-law had outrageously high MSAFPs
>in both her pregnancies (may have had 3) 0 up in that 15 MOM are. All
>work ups negative - all babies normal.
>
>I think we wondered if perhaps her liver just didn't have the enzyme for
>maternal breakdown of the fetal AFP and thus such elevated levels.
>
>Joanne
>(PS just returned from the PCOS conference in Asheville, NC)
>
>At Fri, 26 Oct 2007, Meenan, Anna wrote:
>>
>>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
>
>--
>Joanne Bulley, MD, FACOG
>Solo gyn
>Keene, NH USA
>
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