Issues in implementing prenatal screening for cystic fibrosis: Results of a working conference

Haddow, James E.; Bradley, Linda; Palomaki, Glenn E.; Doherty, Richard A.; Brock, D. J. H.; Cheuvront, Brian; Cunningham, George C.; Donnenfeld, Alan E.; Erickson, Jeryl L.; Erlich, Henry A.; Ferrie, Richard M.; FitzSimmons, Stacey C.; Greene, Michael F.; Grody, Wayne W.; Haddow, Paula K.; Harris, Herbert I.; Holmes, Lewis B.; Howell, R. Rodney; Katz, Michael; Klinger, Katherine W.; Kloza, Edward M.; Lefevre, Michael; Little, Stephen F.; Loeben, Greg; McGovern, Margaret M.; Pyeritz, Reed E.; Rowley, Peter T.; Saiki, Randall K.; Short, M. Priscilla; Tabone, J; Wald, Nicholas; Wilker, Nachama; Witt, David R.

doi:10.1097/00125817-199905000-00003

Cited by 18 publications

(12 citation statements)

References 35 publications

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“…12 The American College of Medical Genetics (ACMG) and the American College of Obstetrics and Gynecology are in the process of determining exactly how such carrier testing should be implemented. 13 A recent statement from the ACMG recommends offering CF carrier testing to all couples of non-Jewish Caucasian descent and of Ashkenazi Jewish descent. CF carrier testing should also be discussed with individuals of other racial and ethnic groups with the caveat that CF is much rarer in these populations and detection rates of CF mutations is also low.…”

Section: Discussionmentioning

confidence: 99%

Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center

Wheeler¹,

Smith²,

Dorkin

et al. 2001

Genetics in Medicine

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Purpose: To study the follow-up of genetic counseling performed in families with a newborn detected with one cystic fibrosis (CF) mutation in a statewide newborn screening pilot program. Methods: Newborns in Massachusetts with an elevated trypsinogen level on newborn screen who are found to have one mutation for CF on a selected mutation assay undergo sweat testing for CF, and their families receive genetic counseling. The genetic counseling focuses on carrier risk for the parents of the newborn and offers carrier testing. We studied the yield of genetic counseling and the resulting genetic testing performed on the families of infants found to be CF carriers who underwent sweat testing in a single institution. Results: Of 102 newborns evaluated with a single CF mutation, 2 (twins) had sweat test results consistent with CF. A total of 101 families were counseled, and 95 were offered DNA-based CF carrier testing. Eighty-two percent of all parents chose to have CF carrier testing, and in five couples, both members were carriers. One of these couples (whose newborn was only a carrier) had an older child who was unexpectedly found to have CF. Conclusions: Sweat testing of newborns at increased risk for CF in conjunction with genetic counseling for their parents allows identification of infants with CF, finds couples at high risk for having a child with CF, identifies previously undiagnosed siblings with CF, and allows for potential identification of CF carriers in the extended family. Genet Med 2001:3(6):411-415.

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Section: Discussionmentioning

confidence: 99%

Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center

Wheeler¹,

Smith²,

Dorkin

et al. 2001

Genetics in Medicine

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show abstract

“…First, although some maintain that cost-effectiveness is an important consideration in the debate over which target groups should be offered CF carrier testing, 8,10 it is generally acknowledged that there is something problematic about cost saving through termination of affected fetuses as the primary aim of screening. 5,11 Therefore, costs considerations should only play a limited part in decisions concerning genetic screening. Second, an earlier study has Table 3 General criteria and specific criteria to be met by genetic screening programs General criteria 1.…”

Section: Selection Of Screening Criteriamentioning

confidence: 99%

Evaluation of cystic fibrosis carrier screening programs according to genetic screening criteria

Henneman

Poppelaars

Kate

2002

Genetics in Medicine

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Genetic screening programs should meet certain criteria before they can be introduced into the community. The aim of this study was to discuss pilot studies for cystic fibrosis (CF) carrier screening before and during pregnancy in the light of important genetic screening criteria. Overall, CF carrier screening meets the prerequisites that justify screening. However, more specific criteria for the development of screening programs were not always taken into consideration. Most project leaders concentrated on uptake as an important outcome, and less on informed decision-making. To further investigate the long-term psychological and social effects of genetic screening, continuous monitoring of screening projects is recommended. Genet Med 2002:4(4):241-249.

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“…Indeed, a recent conference of CF clinicians and researchers reached the conclusion that CF screening should proceed. 13 The only remaining question was how best to implement and deliver it. This question, in some but not all of its facets, was first addressed systematically in a series of pilot CF screening studies funded by NIH.…”

mentioning

confidence: 99%

Cystic fibrosis population carrier screening: Here at last—Are we ready?

Grody¹,

Desnick

2001

Genetics in Medicine

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Issues in implementing prenatal screening for cystic fibrosis: Results of a working conference

Abstract: Once adequate facilities for patient and provider education, testing, counseling, quality control, and monitoring are in place, individual programs can begin prenatal screening for cystic fibrosis.

Cited by 18 publications

References 35 publications

Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center

Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center

Evaluation of cystic fibrosis carrier screening programs according to genetic screening criteria

Cystic fibrosis population carrier screening: Here at last—Are we ready?

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