Comparison of Single-Entry and Double-Entry Two-Step Couple Screening for Cystic Fibrosis Carriers

Tenkate, Lp; Verheij, J. B. G. M.; Wildhagen, M. F.; Hilderink, Henk; Kooij, L; Verzijl, J. G.; Habbema, J. Dik F.

doi:10.1159/000154320

Cited by 11 publications

(6 citation statements)

References 6 publications

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“…In this study a test including the 33 most common CFTR mutations resulting in a sensitivity of 95% for the native Dutch population, was assumed (Scheffer et al, 2001). If the first partner tested positive and the second partner is tested with a test sensitivity of 98% using denaturing gradient gel electrophoresis, the residual risk of +/− couples is less than the risk in the general population (ten Kate et al, 1996). Therefore, the association found in this study between a negative attitude towards screening and low perceived test sensitivity is an unexpected finding.…”

Section: Factors Associated With Attitudementioning

confidence: 55%

Attitudes of Potential Providers Towards Preconceptional Cystic Fibrosis Carrier Screening

Poppelaars

Adèr

Cornel

et al. 2004

Journal of Genetic Counseling

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To determine the attitudes of potential providers (general practitioners and Community Health Service workers) towards preconceptional cystic fibrosis (CF) carrier screening and to determine which factors are associated with a positive attitude. A survey was conducted among 200 general practitioners (GPs) and 134 Community Health Service (CHS) workers. Fifty-two percent of the eligible GPs participated and 84% of the CHS workers. Fifty-five percent of the GPs and 73% of the CHS workers had a positive attitude towards routinely offering CF carrier screening, and more than 80% were in favor of informing the target population about the possibility of having a CF carrier test. A positive attitude was associated with (a) high perceived severity of CF (b) religion (nonreligious compared to Reformed), (c) low perceived barriers, and (d) high perceived test reliability. The care providers who are most likely to be involved in a preconceptional CF carrier screening program, i.e. GPs and CHS workers, generally have a positive attitude towards the implementation of such a program.

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Section: Factors Associated With Attitudementioning

confidence: 55%

Attitudes of Potential Providers Towards Preconceptional Cystic Fibrosis Carrier Screening

Poppelaars

Adèr

Cornel

et al. 2004

Journal of Genetic Counseling

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“…Drawbacks are that this doubles the costs of testing and leads to the identification of twice-as many discordant couples. In PCS for CF, this outcome requires careful counseling in the light of the fact that the risk for these couples has increased as a result of testing (Ten Kate et al 1996). …”

Section: Preconception Carrier Screeningmentioning

confidence: 99%

Preconception care and genetic risk: ethical issues

2011

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Preconception care to address genetic risks in reproduction may be offered either individually to couples with a known or suspected increased risk of having a child with a genetic disorder, or systematically to couples or individuals of reproductive age. The identification of couples at risk of transmitting a (serious) genetic disorder allows those couples to refrain from having children or to adapt their reproductive plans (using prenatal or preimplantation diagnosis, donor gametes, or adoption). Ethical issues concern the possible objectives of providing these options through preconception genetic counseling or screening, objections to abortion and embryo-selection, concerns about eugenics and medicalization, and issues arising in the professional–client relationship and/or in the light of the normative framework for population screening. Although enhancing reproductive autonomy rather than prevention should be regarded as the primary aim of preconception care for genetic risks, directive counseling may well be acceptable in exceptional cases, and prevention in the sense of avoiding serious suffering may be an appropriate objective of specific community-based preconception screening programmes. The seemingly unavoidable prospect of comprehensive preconception screening raises further ethical issues.

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“…An alternative is considering the partners as individuals with either a sequential or simultaneous sampling approach [60].…”

Section: Individual Versus Couple Screeningmentioning

confidence: 99%

Benchmarks for Cystic Fibrosis carrier screening: A European consensus document

Castellani

Maçek

Cassiman

et al. 2010

Journal of Cystic Fibrosis

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This paper presents an overview of the conclusions from an international conference convened to address current issues related to the provision of Cystic Fibrosis carrier screening within Europe. Consensus was not aimed at stating whether such a programme should be implemented. Instead the focus was to provide a framework for countries and agencies who are considering or planning its establishment. The general principles and target population of Cystic Fibrosis carrier screening, advantages and disadvantages, health economics, monitoring and future evaluative and research directions were covered. A range of screening strategies have been assessed and compared: pre-conceptional and prenatal screening; individual and couple screening; sequential and simultaneous sampling or testing. Furthermore, technical issues were examined with respect to the choice of the panel of mutations, its detection rate, sensitivity, management of intermediate 'at-risk' couples, screening approach to different populations and ethnic minorities, and assurance of laboratory quality control. The consensus statement also aims to establish the benchmarks for communicating with health care providers, the general public and potential and actual participants before and after the genetic test.

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Comparison of Single-Entry and Double-Entry Two-Step Couple Screening for Cystic Fibrosis Carriers

Cited by 11 publications

References 6 publications

Attitudes of Potential Providers Towards Preconceptional Cystic Fibrosis Carrier Screening

Attitudes of Potential Providers Towards Preconceptional Cystic Fibrosis Carrier Screening

Preconception care and genetic risk: ethical issues

Benchmarks for Cystic Fibrosis carrier screening: A European consensus document

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