Re: no argument
From: DuBose, Terry (DuboseTerryJ@exchange.uams.edu)
Mon Aug 24 15:17:00 1998
Yes, I would like to see some images of this also... Have never seen it.
Thanks.
--
Peace, Terry J. DuBose, M.S., RDMS
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
