Re: history of amnio/Genetics (long)
From: art fougner, md (evsono@pipeline.com)
Wed Jun 28 13:33:36 2000
regarding the first part - i agree with NY State that Down's Syndrome
serum screen must be accompanied by informed consent.
regarding the second, with the mapping of the human genome, pregnancy
will be an indication for genetic counseling.
stay tuned.
art
At Tue, 27 Jun 2000, Garry E. Siegel wrote:
>
>Since we've started talking about it, a few things to discuss--fodder
>for conversation.
>
>My partner asked me how I would handle a triple screen in a 32 YO whose
>adjusted risk made it the same as a 34 YO. In this lab, it was reported
>as a 1/344 Down risk.
>
>I told him that I would inform the patient that the risk was normal--ie
>less than the cutoff, which is the equivalent of a 35 YO. He debated
>about whether to discuss in more depth, offer amnio, etc.
>
>Generally, I try to explain the test (along with lots of stuff) at the
>12ish week visit, so that the patient knows what they're getting into.
>Sometimes they get into it, cherish the info, and sometimes they are
>clueless. Frankly, even the bright, motivated, informed folks sometimes
>have difficulty with the risk concept, etc.
>
>What do others do?
>
>Second, related subject:
>
>When seeing a 35 or older for prenatal care, they are screened for
>genetic stuff via the ACOG prenatal. Assuming that they don't have any
>historical positives, I then explain the following options, after
>quoting a ballpark risk of Down syndrome from a table nearby:
>
>1. They can do nothing.
>2. They can get genetic counseling, a hour of what I'm giving a short
>version of in 5 minutes.
>3. They can go straight to Amnio or CVS; both discussed briefly, and
>generally I lean towards Amnio unless getting towards 40, or other
>mitigating circumstances.
>4. They can consider nuchal thickness/free beta/PAPP-A testing--new,
>approved, not standard, etc.
>5. They can just do an AFP tri screen, but it will come back
>recommending an amnio, as that disclaimer is always in the report.
>6. I also point out that an 18 week anatomy scan doesn't really help
>with any reliability.
>7. Lastly, I point out that even normal testing--such as an amnio and a
>good scan--doesn't guarantee that something else not easily detected
>couldn't be amiss.
>
>Whew! What do you do?
>
>Garry
>
>--
>Garry E. Siegel, M.D., F.A.C.O.G.
>Private Practice
>Roswell, GA
>
--
art fougner, md
A series of 1000 cases begins with but a single anecdote.
