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Re: Cystic fibrosisFrom: Richard M. Roberts (gene@vol.com)Sun May 17 16:23:37 1998
Absolutely agree with Dr. Griffiths. If this couple does not receive appropriate and informed counseling from a geneticist, and then has a baby with CF, you have a lawsuit which you will loose. But the main point is that if a genetic disease is in the family, refer them to a geneticist for counseling so they themselves may make the fully informed decision, not the ob for them. From personal experience, I know that many perinatologists do not refer, and "wing it" with regard to genetic counseling.. Performing schlocky counseling is not adequate. The suggestion to seek help from a perinatologist who is not a geneticist is precarious at best (as in the response--"Jude: the local perinatologist had this covered in a recent newsletter. If I find a copy I will post it, but you might want to call and see if they will mail you one. the doctors are Katz and Farmer, they have a CNM in practice with them, and their office phone is (541) 349-7600 or (800) 970-7419. There is also an NIH consensus statement about genetic testing for CF http://odp.od.nih.gov/consensus/statements/cdc/106/106_stmt.html , and the American College of Medical Genetics ( no web site that I've found) replied with a counter-statement... good luck alicia”) For those wishing to see the American College of Medical Genetics (ACMG) position papers, including that on CF (the last in the list), the address is http://www.faseb.org/genetics/acmg/pol-menu.htm Among others, the paper recommends: "couples in which one or both reproductive partners either has cystic fibrosis or has an affected relative should be offered carrier testing and counseling." If ACOG really has stated that testing is only indicated in couples with first degree relatives affected, then it is has provided perilous advice for their members indeed. (Imagine yourself in court, being faced with ACMGs unequivocal recommendation). Robert J. Woolley’s response I believe is inappropriate, because it provides directive counseling which most clinical geneticists in the US do not practice. In stating "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.’ ... BTW, some family friends had a baby with cystic fibrosis some 30+ years ago. He wasn't expected to reach adulthood but did and is still alive as far as I know." Appropriate genetic counseling will inform women that a significant proportion of couples, when faced with the reality of the fetus proven affected, choose the opposite course from what they always assumed they would do. Those assuming that they would terminate do not, and vice versa. Appropriate genetic counseling provides the risks and benefits of testing, a complete explanation of the natural history of the disease (telling one example of a long-term survivor is prejudicial), and an explanation of how couples react to such information. The risk must be put in perspective by the geneticist--any couple has a risk of 1% for a serious genetic abnormality never previously seen in the family, because we are all carriers of lethal and serious non-lethal genetic conditions, and 3 to 4 per hundred infants will be born affected with a major malformation--no testing can assure the "perfect baby". Please, when faced with a genetic condition, consult a geneticist. That's what we are here for.
At Sun, 17 May 1998, Malcolm Griffiths wrote:
>
>Get in touch with your local genetics service. Both partners should be
>Agree largely with above.
-- Richard M. Roberts, FACMG Genetics and Prenatal Diagnostic Center Chattanooga, TN, 37421 423 499-4075
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