To know or not to know, disclosure of a newborn carrier screening test result for cystic fibrosis

被引：7

作者：

Vernooij-van Langen, Annette M. M. ^{[1
,2
]}

Reijntjens, Sandra ^{[1
]}

van der Pal, Sylvia M. ^{[3
]}

Loeber, J. Gerard ^{[2
]}

Dompeling, Edward ^{[4
]}

Dankert-Roelse, Jeannette E. ^{[5
]}

机构：

[1] Atrium Med Ctr, Dept Res & Innovat, NL-6401 CX Heerlen, Netherlands

[2] Natl Inst Publ Hlth & Environm RIVM, Lab Infect Dis & Perinatal Screening LIS, NL-3702 BA Bilthoven, Netherlands

[3] TNO, Dept Child Hlth, NL-2301 CE Leiden, Netherlands

[4] Maastricht Univ, Med Ctr, Dept Paediat Pulmonol, NL-6202 AZ Maastricht, Netherlands

[5] Atrium Med Ctr, Dept Paediat, NL-6401 CX Heerlen, Netherlands

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2013年 / 56卷 / 04期

关键词：

Newborn screening; Cystic fibrosis; Carrier; DNA analysis; Focus group; COMMUNICATION; EXPERIENCE;

D O I：

10.1016/j.ejmg.2013.01.006

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Purpose: Most newborn screening (NBS) strategies for Cystic Fibrosis (CF) also identify carriers. However, it is unclear if parents want to be informed about their child's carrier status or not. Methods: Focus group discussions with pregnant couples to explore their opinions about disclosure of a carrier result for CF of their newborn. Results: All (n = 30) wanted to be informed when newborn screening would show their newborn being a CF-carrier. Their main reason was the implication of this knowledge for further family planning. Other family members could be informed and children within the family could be tested. Parents stated they have the right to know, but others also expressed that the choice of not being informed should be offered as well. Conclusion: Most parents want to be informed when NBS for CF reveals that their child is a CF-carrier, but the choice of not being informed should also be offered. (C) 2013 Elsevier Masson SAS. All rights reserved.

引用

页码：192 / 196

页数：5

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