Re: no argument
From: James S Smeltzer MD (gaperina@mindspring.com)
Thu Aug 20 07:00:23 1998
Art,
I have never tapped for isolated CP cysts, mild pyelectasis, hyperechoic
cardiac focus, etc. Tony Vintzelleos uses hard findings first & then the
presence of multiple findings to elevate risk. I have adopted this
approach. When I get burned, I will reconsider my position. Jim Smeltzer
(gaperina@mindspring.com)
At 11:06 AM 8/19/1998 -0500, you wrote:
>Jim ,
>
>another issue you touch on is the manufactured defect. although this is
>a problem, i am more concerned with real findings - those so-called
>minor abnormalities associated with an increased risk for trisomy, eg
>choroid plexus cyst, mild pyelectasis, echogenic intracardiac focus,
>etc. these are so common that i do fear we are introducing unnecessary
>anxiety where joyful anticipation would otherwise prevail. nuchal
>transluceny screening might certainly obviate many of these situations
>by dealing with the issue earlier. until then, more folks will be
>subjected to invasive testing. obviously, your experience is exemplary
>and should be an example to us all.
>
>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
>
