Re: no argument
From: art fougner, md (evsono@pipeline.com)
Tue Aug 18 17:51:11 1998
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
