Re: no argument
From: art fougner, md (evsono@pipeline.com)
Thu Aug 20 09:41:23 1998
Jim,
neither you nor i establish the fees nor the reimbursements. if your
course of management is acceptable to this hypothetical woman once
informed of the risks, benefits and alternatives, then i say "works for
me." again, no argument here. once again, my compliments on your work.
Art
At Thu, 20 Aug 1998, James S Smeltzer MD wrote:
>
>Art,
>
>Please help me, but IMHO a Normal FISH & NO Fam Hx EQUAL NO INDICATION FOR
>KARYOTYPE!
>
>What is the conditional probability of an ABNORMAL PHENOTYPE AT BIRTH,
>given a negative family history, normal FISH, and NORMAL SONOGRAM BY ME?
>So far the answer is ZERO. Is it worthwhile (IS IT ETHICAL) to charge the
>indigent 40 year old with four kids $600 Cash (Equal to the total indigent
>charge for low risk care) for an anticipated benefit of ZERO?????
>
>I personally think this is robbery.
>
>Jim
>
>PS Was the FISH you talked about confirmation of a sonographic sex
>determination? Were these both wrong? Was it a Kleinfelter's, or what? I
>personally think the whole search and destroy Down's Syndrome is pretty
>dicey ethically, (and not a lot different from sex selection), but in this
>country it is the patient's right. JSS
>
>At 05:52 PM 8/18/1998 -0500, you wrote:
>>Jim,
>>
>>have no argument with the concept of using FISH in the following schema
>>for amnio analysis. First, FISH - if abnormal then stop and report. If
>>FISH either normal or uninformative, go to full karyotype. this will
>>pick up the rarer trisomies, eg 22, as well as translocations, markers,
>>etc. cannot agree that nl FISH = nl karyotype. additionally, one of
>>the reasons that Genzyme took that policy started with adverse
>>experience in NY State, possibly terminating pregnancies soley because
>>of the presence of the second x chromosome ( yes, back to sex selection
>>again.)
>>
>>well, to quote Dennis Miller, that's just my opinion, i could be wrong.
>>personally, i can't wait til the day when info can be obtained from
>>fetal cells in maternal circulation. to me that would be the ideal
>>screen.
>>
>>Art
>>
>>At Tue, 18 Aug 1998, James S Smeltzer MD wrote:
>>>
>>>Art,
>>>
>>>It is true that you can make almost any fetus "abnormal". After all, we
>>>are each a unique unrepeatable genetic experiment! Although my personal
>>>rate of "manufactured" defects is pretty low, the number of returns I had
>>>in the first four years was pretty high. - A passing thank you to those
>>>patients who taught me, at the expense of their anxiety!
>>>
>>>Non-informative FISH does not bother me, as I know to set up the cultures &
>>>do the old fashioned way. The problem is that of the destructive (adverse
>>>outcome for this fetus) CHROMOSOMAL anomalies, 99+% are detected by FISH,
>>>at a total cost of 1/2 of that for full karyotype for cash pay indigent
>>>patients.
>>>
>>>I can detect 90% (70% guaranteed) of Down's or worse (One Down's missed by
>>>US screen, with 20 or so detected, zero 13, 18, triploid, Turner's missed
>>>so far, zero percent of unidentified Down's delivered over 5 years @3500
>>>births / year were scanned in my dept (& Bayes' rule says that a
>>>conditional prob of zero is at least near zero for the opposite condition).
>>>
>>>You also need to look at the family! As I said to the mother of the fetus
>>>with wedging, clinodactyly and small MP of the fifth digit I saw today:
>>>This can be a marker for Down's Syndrome, but when the mother and sister
>>>(also in the room, with a classic Down's Pinkie) have it, it doesn't count.
>>>
>>>The exception to this rule I will never forget! I was finishing a talk
>>>with a mother - whose baby had a funny looking head, that I thought was
>>>isolated sagittal craniosynostosis, telling her about how it was a good
>>>thing to recognize, even though it had never been seen prenatally before,
>>>because it permitted a neurosurgical procedure to break the sutures and
>>>permit the head to assume a rounder shape. I told her it was not medically
>>>essential to do this, but that children and others tended to be cruel
>>>toward those who looked any different. I heard a sniffle behind me, turned
>>>around, & saw the husband with tears streaming down his very long head,
>>>hidden partly behind a curtain. I had just awakened his childhood memories.
>>>
>>>I sent them to John Ward also at MCV, who did the refracture at one month,
>>>& the baby developed with a beautiful round head.
>>>
>>>So, in our population, the targeted US and stratification for genetic
>>>studies worked. Only 20-30% of samples we sent to Jim Crane's lab were
>>>positive for chromosomal anomaly, so MOST IDENTIFIED were NORMAL, but only
>>>at a 3:1 to 5:1 ratio. This is a lot better than AMA at less than 48, and
>>>argues strongly against any propensity to overcall.
>>>
>>>In this business it pays to read a lot (The eye seeith what the mind
>>>knoweth). It also pays to remember that this is PRACTICE, rather than
>>>perfection. Each patient's tolerance for uncertainty, spectrum of
>>>potential action, and personal and social attitudes are different. The
>>>best course of action for any particular patient is a matter for that
>>>patient to work out with her individual physician.
>>>
>>>I therefore regard the position of the ASHG regarding FISH, and Genzyme's
>>>implementation of that policy, as OBSOLETE scientifically, unethically
>>>self-serving (and potentially quite harmful to the patient's enlightened
>>>self-interest) corporately, and an unwarranted intrusion on the
>>>physician-patient relationship. Aside from these three details, it is OK.
>>>
>>>Medical costs have run amok because WE PHYSICIANS HAVE ABROGATED OUR
>>>FIDUCIAL RESPONSIBILITY TO OUR PATIENTS, and then have acted as if all
>>>patients had insurance when setting our self-serving policies.
>>>
>>>BTW, as I said, the 10-12 week scan for nuchal thickness does as well as I
>>>can, triple screen, and AMA, and gives Platinum standard dating in the
>>>process. THIS is what I would recommend for my indigent patients over 30.
>>>It DOES miss most of the major structural problems detectible at 18-20
>>>weeks however.
>>>
>>>I am posting this because my position is controversial medically, & because
>>>I want to stir up some discussion!
>>>
>>>Jim Smeltzer MD (perinatal@perinatal.net)
>>>
>>>At 01:56 PM 8/5/1998 -0400, you wrote:
>>>>Jim
>>>>
>>>>you'll get no argument from me re: targeted U/S in your hands. we could
>>>>go back and forth over the benefit/cost vis a vis FISH only vs.
>>>>FISH->karyo if FISH uninform or normal. we ran into about 1/5 - 1/10
>>>>uninformative rate when brian ward was running the framingham FISH lab.
>>>>i am curious, however, if you further analyzed your sono findings vs
>>>>trisomies. ie, which sonar findings had highest yield for which trisomy.
>>>>my own prob with the u/s minor criteria ( stealing from rheumatology) is
>>>>that so many normal fetuses exhibit these findings as well. we are
>>>>almost at the point where one could justify further testing on virtually
>>>>all fetuses. again, this is NOT criticism - more like admiration
>>>>actually. keep on keepin on. hope you found the article useful.
>>>>
>>>>Art
>>>>
>>--
>>art fougner, md
>>SonoScan/Genetic Sciences
>>forest hills, ny
>>evsono@pipeline.com
>>
--
art fougner, md
SonoScan/Genetic Sciences
forest hills, ny
evsono@pipeline.com
