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Re: nuchal translucency From: Jim Smeltzer (gaperina@mindspring.com) Tue Aug 4 19:45:10 1998 Messages sorted by: [ date ][ thread ][ subject ][ author ] Next message: Spnglr@aol.com: "Re: U/S contrast agent use for tubal pat" Previous message: M Buchanan-DeLamar: "Post C-Section" In reply to: art fougner, md: "Re: nuchal translucency" Art, If FISH costs $150, and Karyotype $550, indication for amniocentesis is risk for trisomy, FISH 99.999% sensitive for trisomy, alternative for $400 is to get TWO UNINDICATED targeted US which are 70% sensitive for the 2% risk, independent of age, of major anomaly NOT related to aneuploidy & 70% of the .5% of "abnormal" karyotypes which are NOT trisomies are apparently balanced, but possibly not inversions or tranlocations etc, & 70% of the others are SO unbalanced that they will terminate themselves, what is the benefit ratio of FISH & targeted to full karyotype? Answer Yield targeted = .7 x .02 = .014 anomalies detected @ $200 = 1/$14,285 anomaly per dollar spent. Yield karyotype = .3 x .3 x .005 = .0045 anomalies detected @ $400 1/$88,888 anomaly per dollar spent. TARGETED is 6 times as efficient. I care for a population of self-pay working poor-semi-indigent patients, who have other uses for the money, like buy clothes and shoes for their children. If prenatal diagnosis is something they desire, and some do, then it is my obligation to provide it at a cost they can afford if possible. With FISH at $150, some can afford the certainty of amniocentesis and pay for it. With Chromosomes at $550, none have been able to pay for the test. It is my job to help them understand their choices, and I have told them that chromosomes are the test of certainty. Now Genzyme has informed me verbally that their geneticists have met and they refuse to offer FISH as an isolated test to my patients. I regard this as unethically intrusive on the doctor patient relationship, and unfair to my patients and asked them to put this in writing. So far they have not done so. Now I personally have no stake in this business except to provide the best possible care to my patients. Cost-effective care is where it is at! Others could level the same arguments about self-serving restrictions on trade that the AIUM etc, who mandate a complete study at 3x the cost, are mandating without a proven benefit! Now in my case, I KNOW it is beneficial, but in yours or Josh's, I'm not too sure... <;^} Jim (gaperina@mindspring.com) At Tue, 4 Aug 1998, art fougner, md wrote: > >Jim > >FISH will NOT put labs out of business as only useful in these >situations to dx trisomies. FISH of amniocytes will not find the less >common abn karyotypes, the mosaics, the translocations, etc. there was >one case report from UCONN ( Benn et al.) of an erroneous FISH >diagnosis. my feeling is that the role of FISH will be as a first stage >test - if TRISOMY then clearly abnormal. If the FISH is equivocal or >normal, then follow through with standard culture and karyotype. well, >to quote dennis miller, "that's my opinion - i could be wrong." > >Art > >At Tue, 4 Aug 1998, James S Smeltzer MD wrote: >> >>Hi Tania, >> >>We are both right. The 30% you are talking about is 30% of the total >>incidence of Down's Syndrome that is detected by testing all with Maternal >>Age over 35. >> >>The amniotic fluid cell culture, Chromosome count and Karyotype test itself >>will detect essentially all (with a small allowances for mosaic >>translocations and lab error) babies with Down's syndrome whose cells are >>tested. The newer, much faster and much cheaper fluorescent in situ >>hybridzation test will detect about 99Plus percent. This is not approved >>by the American Society of Human Genetics because it will put many of them >>out of business. >> >>I hope this helps. >> >>Jim Smeltzer (gaperina@mindspring.com) >> >>At 07:17 PM 8/3/1998 -0500, you wrote: >>>In a message dated 03/08/98 12:11:47 GMT, gaperina@mindspring.com writes: >>><< To: ultrasound@talk.obgyn.net (Multiple recipients of list) >>> >>> Hi OnebornJoy, >>> >>> Amnio detection rates are still the Gold standard ~100%. I do not think it >>> is the equipment - as I have seen it equally well with high and low end >>> with TVS. It is the sonographers and the sensitization. >>> >>> >> >>>Are you saying that amnio detection rates for downs syndrome are 100% >>>accurate.? >>>I thought they only detected about 30% and that blood tests only 60% >>>Blessings >>>Tania >>> >-- >art fougner, md >SonoScan/Genetic Sciences >forest hills, ny >evsono@pipeline.com > -- J Smeltzer, FACOG, MD Next message: Spnglr@aol.com: "Re: U/S contrast agent use for tubal pat" Previous message: M Buchanan-DeLamar: "Post C-Section" In reply to: art fougner, md: "Re: nuchal translucency"

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