Institute for Human Genetics, RWTH Aachen University, Aachen, Germany.
LADR Laborzentrum Recklinghausen, Recklinghausen, Germany.
J Perinat Med. 2021 May 31;49(8):965-971. doi: 10.1515/jpm-2021-0204. Print 2021 Oct 26.
By implementation of non-invasive prenatal testing (NIPT) for the diagnosis of Down syndrome (DS) in maternity care, an ethical debate is newly inflamed how to deal with this information. Fears of the consequences of an increased use of NIPT are justified with the same arguments when amniocentesis and preimplantation genetic diagnosis (PGD) were introduced decades ago. It can be expected that the prevalence of people with DS would significantly increase in Western societies as a result of the increasing age of pregnant women and the improved medical care for people with DS. The net effect as to whether an increasing uptake of NIPT will result in more abortions of fetuses with trisomy 21 cannot be reliably estimated. This holds true since more and more couples will use results of NIPT for information only, but will not opt for termination of pregnancy. Although parents love their children with DS, in a society where reproductive autonomy is seen as an achievement, access to NIPT cannot be limited. On this background, comprehensive and qualified pretest counseling is vital, also to avoid possible stigmatization of people with DS and as the resulting consequence to avoid feared deterioration in their living conditions, for which, however, there is no evidence to date. The personal view of a mother of a child with DS illustrates the complexity in dealing with NIPT, which does not allow simple answers and must be understood as a challenge for society as a whole.
通过在妇产科护理中实施非侵入性产前检测(NIPT)来诊断唐氏综合征(DS),一个新的伦理辩论是如何处理这些信息。当几十年前引入羊膜穿刺术和胚胎植入前遗传学诊断(PGD)时,人们对 NIPT 应用增加的后果的担忧是有道理的。可以预计,由于孕妇年龄的增加和对 DS 患者的医疗保健的改善,西方社会中 DS 患者的患病率将显著增加。无法可靠估计 NIPT 使用率增加是否会导致更多的 21 三体胎儿流产。这是因为越来越多的夫妇将仅使用 NIPT 的结果作为信息,而不会选择终止妊娠。尽管父母爱他们患有 DS 的孩子,但在将生殖自主权视为成就的社会中,不能限制 NIPT 的使用。在此背景下,全面和合格的检测前咨询至关重要,也可以避免对 DS 患者的可能污名化,以及避免由此导致的生活条件恶化,尽管迄今为止还没有证据表明这一点。一位患有 DS 孩子的母亲的个人观点说明了在处理 NIPT 时的复杂性,这不容许简单的答案,必须被理解为对整个社会的挑战。