Re: AF-AFP 16MoM, U/S, Echo, and AF-AchE negative- what next?
From: Joanne Bulley, MD (islesannie@gmail.com)
Tue Oct 30 20:14:39 2007
Sorry - my apologies - that was my typo and so should be 100% ignored!
the MSAFPs in her 2 (or 3) pregnancies were all up at the 15 MoM type
levels.
We all sweated it out as she went through various and sundry "negative
work ups" -- all babies A-OK.
Joanne
At Tue, 30 Oct 2007, F Chiramel wrote:
>
>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
>>
--
Joanne Bulley, MD, FACOG
Solo gyn
Keene, NH USA
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