Re: Cystic fibrosis

From: Malcolm Griffiths (Malcolm@MGRIFF22.demon.co.uk)
Sun May 17 15:32:35 1998


In message <0074a5920041058FM02@mail.fm>, Lisa Boisvert-Mackenzie <libo@mail.fm> writes >
>Jude,
>One of the questions I ask when clients consider testing for genetic
>abnormalities is "what do you want to do with this information?" Some
>clients want the option of termination, others will continue the pregnancy
>regardless, so I ask do you want to worry throughout the pregnancy for a
>test that is accurate such and such percent of the time or do you wish to
>pursue further testing that entails so-and-so and predicts with such and
>such accuracy. Some think about it and decide they will accept this baby
>however it is, others need to know more before they can decide and/or
>prepare and will opt for more testing and some will terminate if the baby
>does not seem "perfect."

Agree largely with above.

>
>Anne Frye suggests a radioimmunoassay for serum trypsin. She also states
>"About 5 % of the Caucasian population carries the gene and 1 in 2000
>infants will be affected." This is from 'Undersanding Diagnostic Tests in
>the Childbearing Year.'

Not familar with this text (or date of text), but I think it is pretty well out of date since confirmation of the site of the CF gene and ability to assay for deletion defects at that site.

--
Malcolm Griffiths               MD,MRCOG,MFFP,Cert.Mgmnt
Obstetrician & Gynaecologist    Luton & Dunstable Hosp.,UK.
Tel:    01582-497459 (office)   Fax:    01582-497376
        01525-222849 (home)     email:  Malcolm@mgriff22.demon.co.uk
http://www.obgyn.net/board/griffith.htm
"CLINICAL FREEDOM IS THE LAST REFUGE OF THE CLINICALLY INCOMPETENT!"
(Someone [1997])




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