Re: no argument
From: James S Smeltzer MD (gaperina@mindspring.com)
Mon Aug 24 05:42:20 1998
Art,
FISH not likely to be productive is exactly why I remembered it!
I do not have pix of this Wolf Hirshhorn, as they are in teaching file at
MCV (Medical College of Virginia) in Richmond. The scan image looked like
the nosepiece of a greek war helmet from Homer's era! Original is in
Louvre. I'm not sure who is at MCV now.
Jim Smeltzer MD
At 07:45 AM 8/22/1998 -0500, you wrote:
>Jim,
>
>since severe IUGR may be the major sonographic feature, these could
>certainly be subtle enough to be missed in routine midtrimester
>ultrasound. could you pls post a pic of the face? when i get back to
>the office, i'll rummage through our case files to see what i can come
>up with.
>
>btw i take it FISH would NOT have confirmed the true nature of this
>problem. the real take home message here for us all is that if
>something doesn't look right, there's probably a reason.
>
>great pick-up. your patients are lucky to have you.
>
>Art
>
>At Fri, 21 Aug 1998, James S Smeltzer MD wrote:
>>
>>aRT,
>>
>>I thought about this last night & I thought I was wrong, but I was
>>mistaken. I had a Wolf-Hirshhorn (4p Minus) in which we had classical
>>Greek Helmet facies, which we noticed & did an amniocentesis. We DID NOT
>>KNOW WHAT WE HAD until the karyotype result came back. These can happen.
>>You can help me with the conditional probability that these are there is a
>>sonographically normal mid-trimester fetus. This will help for
>>counselling. Thanks,
>>
>>Jim <(:^)>
>>
>>At 07:13 AM 8/20/1998 -0500, you 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
>
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