Prenatal screening for cystic fibrosis: An early report card

Palomaki, Glenn E.

doi:10.1097/01.gim.0000127272.60548.52

Cited by 8 publications

(3 citation statements)

References 8 publications

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“…The 23-mutation panel has performed well over the years and has met the expectations of a minimum CF carrier screening panel. 5,15 However, the panel does not perform as well in regions with a higher percentage of African Americans, Hispanic Americans, or members of other ethnic groups. 9,13,14,16 The ACMG/ACOG panel was originally designed for the Caucasian and Ashkenazi Jewish population and excludes mutations that are important in other ethnic groups "that are significant components of the American mosaic. "…”

Section: Discussionmentioning

confidence: 97%

Cystic fibrosis carrier screening in a North American population

Zvereff¹,

Faruki²,

Edwards³

et al. 2014

Genetics in Medicine

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Methods:Patients referred for cystic fibrosis screening from January 2005 through December 2010 were tested using either a 32-mutation panel (n = 1,601,308 individuals) or a 69-mutation panel (n = 109,830). Results:The carrier frequencies observed for the 69-mutation panel study population (1/36) and Caucasian (1/27) and African-American individuals (1/79) agree well with published cystic fibrosis carrier frequencies; however, a higher carrier frequency was observed for Hispanic-American individuals (1/48) using the 69-mutation panel as compared with the 32-mutation panel (1/69). The 69-mutation panel detected ~20% more mutations than the 32-mutation panel for both African-American and Hispanic-American individuals. Conclusion:Expanded panels using race-specific variants can improve cystic fibrosis carrier detection rates within specific populations. However, it is important that the pathogenicity and the relative frequency of these variants are confirmed. Genet Med advance online publication 19 December 2013

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Section: Discussionmentioning

confidence: 97%

Cystic fibrosis carrier screening in a North American population

Zvereff¹,

Faruki²,

Edwards³

et al. 2014

Genetics in Medicine

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“…Carrier testing for CF is offered by an unknown number of prenatal health-care providers. Preliminary data indicate that <20% of pregnant women in the United States receiving prenatal care are being screened for CF (52).…”

Section: Prenatal Screening For Cfmentioning

confidence: 99%

Newborn Screening for Cystic Fibrosis: Evaluation of Benefits and Risks and Recommendations for State Newborn Screening Programs—

Grosse¹,

Boyle²,

Botkin³

et al. 2005

The Journal of Pediatrics

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Recommendations and ReportsOctober Disclosure of Relationship CDC, our planners, and our content specialists wish to disclose they have no financial interests or other relationships with the manufacturers of commercial products, suppliers of commercial services, or commercial supporters with the exception of Anne Marie Comeau, Ph.D. She wishes to disclose that she is employed by the University of Massachusetts Medical School, which operates a newborn screening program. This report does not include any discussion of the unlabeled use of a product or a product under investigational use.

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“…As emphasized in a recent editorial, evaluation of such data are necessary to assess the impact and performance of the CF screening guidelines. 28 We surveyed indications for prenatal diagnosis for CF over a 3-year time period. These data indicate that although indications for prenatal testing shifted after the issuance of carrier screening guidelines, prenatal testing related to parental 5T alleles comprises Ͻ 3% of referral indications.…”

mentioning

confidence: 99%

Analysis of 3208 cystic fibrosis prenatal diagnoses: Impact of carrier screening guidelines on distribution of indications for CFTR mutation and IVS-8 poly(T) analyses

Rohlfs

Weinblatt²,

Treat

et al. 2004

Genetics in Medicine

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Purpose: To evaluate and quantify indications for CFTR mutation analysis of prenatal specimens, and to determine if a significant portion of tests are performed only for the identification of 5T alleles, we surveyed our laboratory data over a 3-year time period that spanned the issuance of the cystic fibrosis (CF) carrier screening guidelines. Testing indications related to parental 5T status also increased significantly in the post-ACMG/ACOG period and accounted for 2.9% of testing over the 3-year period. A small subset (1.6%) of prenatal specimens were tested for poly(T) even though the parents did not carry 5T allele(s). However, more than 40% of these cases could be attributed to parental R117H mutations. Conclusion: These data indicate that although indications for prenatal testing shifted after the issuance of carrier screening guidelines, prenatal testing related to parental 5T alleles comprised Ͻ 3% of the total referral indications. Genet Med 2004:6(5):400 -404.

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Prenatal screening for cystic fibrosis: An early report card

Cited by 8 publications

References 8 publications

Cystic fibrosis carrier screening in a North American population

Cystic fibrosis carrier screening in a North American population

Newborn Screening for Cystic Fibrosis: Evaluation of Benefits and Risks and Recommendations for State Newborn Screening Programs—

Analysis of 3208 cystic fibrosis prenatal diagnoses: Impact of carrier screening guidelines on distribution of indications for CFTR mutation and IVS-8 poly(T) analyses

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