Re: counseling after amnio results are in

From: art fougner, md (evsono@pipeline.com)
Mon Mar 20 07:35:52 2000


the sensitivity of ultrasound in predicting Down's syndrome is conservatively about 80%. we have also suspected that some ultrasound findings may be gestational - age dependent. we recently had one case of a 41 yr old who underwent amnio at 15.5 wks. despite an apparently normal ultrasound, the karyotype was Trisomy 18. review of the images showed a nl 4 chamber heart and an open fetal hand. when the woman returned for post-amnio counseling, she was gracious enough to permit a rescan. at this time, there was obvious ventricular disproportion w/i the fetal heart. while overlapping fingers were now seen, this fetus was still able to open the hand. while ultrasound technology is certainly greatly improved, we are still evaluating a work in progress. we should all remember the words of Lawrence Peter "Yogi" Berra - "It ain't over 'til it's over."

Of course that's just my opinion. I could be wrong.

Art

At Sat, 18 Mar 2000, Efrain Ramirez wrote: >
>At Sat, 18 Mar 2000, J. Hellriegel wrote:
>
>>Sometimes it is a bit complex.
>
>You bet! The ultimate question the couple should answer INMHO -- is
>which what outcome will they live more at peace with themselves -- if by
>doing an amnio they might loose a healthy baby -- or by not doing it
>they might have to deal with a baby with chromosomal abnormalities (Down
>been the most common) -- both are decisions with life long implications.
>I did (well--not me--this particular one I asked a friend of mine
>:-)--an amnio to my wife 8 years ago-- her risks were in the order of
>1/800-- to me -- because of some very personal reasons --that figure was
>too high!! - she agreed with the amnio -- we have a beautiful daughter -
>We think we made the right decision -- for another couple-- or an MD --
>it would be outrageous.
>
>>--
>>J. Hellriegel
>>
>>At Fri, 17 Mar 2000, Efrain Ramirez wrote:
>>>
>>>You can certainly decrease the odds but by how much--IMHO it depends a
>>>lot on the one making the ultrasound --how much expertise,etc. -- what
>>>are you going to say to a patient (35y/o)with a positive screen -1/75 --
>>>and the MFM says that he could not found an US marker? in other words--
>>>what does the MFM says in his written report --odds? --does he
>>>recommends *not* to do an amnio -- what are their specific
>>>recommendations?
>>>
>>>At Fri, 17 Mar 2000, J. Hellriegel wrote:
>>>>
>>>>There is a trend in this area to use some biochemical markers and
>>>>ultrasound (US) for detection of chromosomal anomalies. With the
>>>>movement in this direction, I have not done a "genetic amino" for about
>>>>a year.
>>>>
>>>>Current combination is US plus triple screen, but movement is toward
>>>>using US plus free beta HCG and PAPP-A (Pregnancy Associated Plasma
>>>>Protein-A)for detection of chromosomal anomalies.
>>>>
>>>>I do not perform the US. It is done by MFM docs. who have experience
>>>>evaluating "US markers".
>>>>
>>>>Is this occuring elsewhere? Have you found it to be accurate and
>>>>acceptable to your patients?
>>>>
>>>>--
>>>>J. Hellriegel
>>>>
>>>>--
>>>>John Hellriegel, MD, PhD
>>>>
>>>--
>>>"The things you learn after you know everything are the important ones"
>>>
>>--
>>John Hellriegel, MD, PhD
>>
>--
>"The things you learn after you know everything are the important ones"
>

--
art fougner, md

A series of 1000 cases begins with but a single anecdote.





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