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测试时代:新型产前检测预示唐氏综合征的终结?

Testing times: do new prenatal tests signal the end of Down syndrome?

作者信息

Cole Robert, Jones Gareth

机构信息

Bioethics Centre, University of Otago, PO Box 913, Dunedin 9054, New Zealand.

出版信息

N Z Med J. 2013 Mar 1;126(1370):96-102.

Abstract

Since 2010, prenatal screening for Down syndrome (DS) has been offered to all pregnant women in New Zealand. The programme has been criticised by several groups, on claims that screening is eugenic and discriminatory towards those with DS. Recently, tests have been developed that may one day prove more efficient than current screening methods. They are an example of 'Non-Invasive Prenatal Diagnosis' (NIPD), which enables diagnosis earlier in pregnancy with less risk of complications. If the current programme raises objections, what threats does this new and seemingly more attractive technology pose to the DS community? We argue that NIPD is simply an extension of current screening methods, raising similar ethical concerns. Presently, the programme shows little evidence of 'eugenics', demonstrated by moderate uptake rates and varying attitudes towards disability. We do not regard the offer of screening to be threatening, as women choose whether or not to be screened depending on their own personal circumstances. One day, prenatal testing may result in fewer people with DS; but past and present trends indicate these individuals will continue to be supported, irrespective of 'group size'. Care and respect for the disabled will remain essential, regardless of a woman's decision over her pregnancy.

摘要

自2010年以来,新西兰已向所有孕妇提供唐氏综合征(DS)的产前筛查。该项目受到了几个团体的批评,他们声称筛查是优生学行为,并且对唐氏综合征患者具有歧视性。最近,已经开发出一些检测方法,也许有一天会证明比目前的筛查方法更有效。它们是非侵入性产前诊断(NIPD)的一个例子,能够在怀孕早期进行诊断,且并发症风险更低。如果当前的项目引发了反对意见,那么这项新的、看似更具吸引力的技术会对唐氏综合征群体构成哪些威胁呢?我们认为非侵入性产前诊断只是当前筛查方法的延伸,引发了类似的伦理问题。目前,该项目几乎没有“优生学”的证据,适度的参与率以及对残疾的不同态度就证明了这一点。我们不认为提供筛查具有威胁性,因为女性会根据自己的个人情况选择是否接受筛查。有一天,产前检测可能会导致唐氏综合征患者数量减少;但过去和现在的趋势表明,无论“群体规模”如何,这些人都将继续得到支持。无论女性对自己的怀孕做出何种决定,关爱和尊重残疾人都将至关重要。

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