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仅进行唐氏综合征快速产前诊断检测还是等待更长时间进行完整核型分析:孕妇的观点。

Rapid prenatal diagnostic testing for Down syndrome only or longer wait for full karyotype: the views of pregnant women.

作者信息

Ryan Mandy, Diack Jane, Watson Verity, Smith Norman

机构信息

Health Economics Research Unit, University of Aberdeen, Foresterhill, Aberdeen AB25 2ZD, Scotland, UK.

出版信息

Prenat Diagn. 2005 Dec;25(13):1206-11. doi: 10.1002/pd.1309.

DOI:10.1002/pd.1309
PMID:16353286
Abstract

OBJECTIVES

Prenatal diagnosis by karyotype analysis determines the copy number and structure of each chromosome and is considered to be the 'gold standard' in detection of chromosome abnormality. This method is, however, time consuming and women may have to wait up to 21 days for the results. With improving molecular genetic techniques, the most commonly occurring chromosome abnormalities can be diagnosed within 2 days from amniotic fluid. This study investigates the value pregnant women place on these alternative prenatal diagnostic tests.

METHODS

A structured self-completion discrete choice experiment questionnaire was designed. The subjects were 40 pregnant women, of unknown risk, attending for their 11-week booking scan and 10 elevated-risk women attending for amniocentesis at the Aberdeen Maternity Hospital, Scotland.

RESULTS

Women value 'comprehensive' information of a full karyotype analysis at pounds 791, and 'simple' information of a rapid diagnostic test at pounds 690. Willingness to pay for a day's reduction in waiting time for results is pounds 18. Women prefer a prenatal service providing simple over comprehensive information as long as they receive results 6 days sooner than the comprehensive results would be provided.

CONCLUSIONS

While women prefer comprehensive information, the bulk of the value is placed on knowing whether the fetus has Down syndrome. Given the longer wait times for comprehensive information, simple information is preferred as long as results are received 6 days sooner than would be the case for comprehensive information. These results have implications for the resources dedicated to providing a rapid prenatal diagnostic service.

摘要

目的

通过核型分析进行产前诊断可确定每条染色体的拷贝数和结构,被认为是检测染色体异常的“金标准”。然而,这种方法耗时较长,女性可能需要等待长达21天才能获得结果。随着分子遗传学技术的不断进步,最常见的染色体异常可在羊水样本采集后的2天内得到诊断。本研究旨在调查孕妇对这些替代产前诊断检测方法的重视程度。

方法

设计了一份结构化的自我完成式离散选择实验问卷。研究对象包括40名风险未知的孕妇,她们在怀孕11周时前来进行预约扫描;以及10名高风险孕妇,她们在苏格兰阿伯丁妇产医院接受羊膜穿刺术。

结果

女性认为全核型分析的“全面”信息价值791英镑,快速诊断检测的“简单”信息价值690英镑。为将等待结果的时间缩短一天,她们愿意支付18英镑。只要能比获得全面信息的时间提前6天收到结果,女性更倾向于选择提供简单信息而非全面信息的产前服务。

结论

虽然女性更倾向于全面信息,但大部分价值在于了解胎儿是否患有唐氏综合征。鉴于获取全面信息的等待时间较长,只要能比获取全面信息的时间提前6天收到结果,简单信息更受青睐。这些结果对用于提供快速产前诊断服务所需的资源具有启示意义。

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