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Re: Cystic fibrosisFrom: ATB28 (ATB28@aol.com)Fri May 15 22:19:09 1998
In a message dated 05/15/1998 5:52:10 PM Pacific Daylight Time, jkuro@midrivers.com writes: << I have a young couple who came to me today to confirm her pregnancy. She has several relatives with cystic fibrosis, although none in her immediate family (2 sisters have unaffected children.). She wants to know what her chances of having a child with cf and whether there are prenatal tests for it. I've looked on the net for some info, but found nothing definitive. Any suggestions of where to look, and any advice? Jude >> Jude: Do a pedigree first, to establish proximity of probands (relatives with the disease), and to rule out other common indications for (increased fetal risks) testing. Strictly based upon the information you provided, there is no indication for testing - but you really need to get more information (a genetic counselor can do all this for you). No first degree relatives, no indication for screening (see ACOG opinion in this month's ACOG newsletter, which you can view online if you are not an AWOHNN member). What is their race/ethnic background? It helps clarify heterozygote (carrier) frequency risks. Do they have other risks? What is the maternal age? Did you offer them triple/quad test? Are they Jewish and at risk for Tay-Sachs disease. Are they black, Hispanic, or mediterranean and therefore a risk for sickle cell and/or thalassemia? Other screening tests to consider..... Good luck. And again, think "genetic counseling consult." Allan
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