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Criado em : 10 Feb 2004
Alterado em : 01 Dec 2007

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Nota bibliográfica (sem autor) :

Prenatal Screening Halves Cystic Fibrosis Births. Family Practice News 2004;34(1):55.

Autores :

Bates B.

Ano de publicação :

2004

URL(s) :

http://www2.efamilypracticenews.com/scripts/om.dll…

Résumé (français)  :

Abstract (English)  :

The nation’s largest prenatal cystic fibrosis screening program identified 2,003 carriers of CF gene mutations in its first 4 years and resulted in the births of half the expected number of babies with the disease.

The program is operated by Kaiser Permanente of Northern California, a 3-million member health maintenance organization. Its guidelines call for screening the DNA of any willing pregnant woman who describes herself or her partner as having Caucasian ancestry, using a panel of 37 common or relatively common cystic fibrosis mutations. Patients with positive results are offered genetic counseling and CF screening of their partners. Prenatal diagnosis is then made available to couples found to be at high risk of carrying a fetus with CF, Dr. David R. Witt said at the annual meeting of the American Society of Human Genetics.
What cannot be measured is the benefit to parents who can choose not to have a baby with severe CF or prepare for the birth and specialized care required by such a child should they choose not to terminate the pregnancy, he said.

Which populations should be widely screened for CF is still a matter of debate, despite a statement by the American College of Obstetricians and Gynecologists that recommends specifically offering testing to Caucasians, who are at highest risk, and making screening available to other populations. (People of any ethnic background with a family or personal history of CF are directly tested, both in the Kaiser Permanente program and most institutions, but not through widespread screening programs.)

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Cécile Loup — 10 Feb 2004