Parental attitudes to the identification of their infants as carriers of cystic fibrosis by newborn screening
Parental attitudes to the identification of their infants as carriers of cystic fibrosis by newborn screening
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DOI：
10.1111/j.1440-1754.2006.00917.x
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发表时间：
2006-09-01
影响因子：
1.7
通讯作者：
Massie, John
中科院分区：
文献类型：
--
作者：
Lewis, Sharon;Curnow, Lisette;Massie, John
目的：调查父母对通过新生儿筛查 (NBS) 检测婴儿囊性纤维化 (CF) 携带者的态度。方法：数据来自 1996-1997 年（含）和 2001 年澳大利亚维多利亚州 NBS 确定为 CF 携带者的婴儿父母（n = 66）发送的邮寄调查问卷。结果：几乎所有父母都记得他们的孩子被确定为 CF 携带者（97%： 1996/1997；100%：2001）；然而，大多数人当时并不知道国家统计局可以检测携带者（70%：1996/1997 年；49%：2001 年）。与早期队列相比，后期队列中更多的父母报告进行了携带者检测（分别为 85% 和 53%），但根据健康记录进行验证时，早期队列中的回忆更加不确定。任何一个队列中的其他家庭成员都没有经常使用级联测试。家长们并不太了解如果检测结果为阴性，成为携带者的剩余风险。一些父母（28%：1996/1997；18%：2001）对他们的孩子目前的健康状况和未来的生育决策仍然存在焦虑。大多数家长对汗液测试时提供给他们的信息感到满意。队列之间几乎没有发现差异。结论：虽然维多利亚州 NBS 的 CF 流程对于大多数婴儿被确定为携带者的家庭来说是有效的，但仍有一些领域可以改进。我们建议应更加重视告知家长 NBS 的结果是 CF 携带者检测，并应制定提高级联检测利用率的策略。
Aim: To investigate parental attitudes to cystic fibrosis (CF) carrier detection of their infant by newborn screening (NBS).Methods: Data were collected from a postal questionnaire sent to parents of infants identified as CF carriers by NBS in 1996-1997 (inclusive) and 2001 in Victoria, Australia (n = 66).Results: Almost all parents remembered their child being identified as a CF carrier (97%: 1996/1997; 100%: 2001); yet the majority were unaware at the time that NBS could detect carriers (70%: 1996/1997; 49%: 2001). More parents in the later cohort reported having carrier testing compared with the earlier cohort (85% and 53% respectively) but recall was more uncertain in the earlier cohort when validated against health records. Cascade testing was not utilised frequently by other family members in either cohort. Residual risk of being a carrier if testing was negative was not well understood by parents. Some parents (28%: 1996/1997; 18%: 2001) had residual anxiety about the current health of their charrier child and their future reproductive decision making. Most parents were satisfied with the information provided to them at the time of the sweat test. Few differences were seen between the cohorts.Conclusion: Although the NBS process for CF in Victoria is working efficiently for the majority of families whose infant is identified as a carrier there are areas that can be improved. We recommend that greater attention should be given to informing parents that a consequence of NBS is CF carrier detection and strategies to improve utilisation of cascade testing should be developed.