Re: nuchal translucency

From: art fougner, md (evsono@pipeline.com)
Tue Aug 4 09:19:12 1998


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



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