Löwy Ilana
CERMES (INSERM, CNRS, EHESS), 7 rue Guy Moquet, 94801 Villejuif cedex, France.
Stud Hist Philos Biol Biomed Sci. 2014 Sep;47 Pt A:154-62. doi: 10.1016/j.shpsc.2014.05.015. Epub 2014 Jun 23.
Prenatal diagnosis (PND) is frequently identified with genetic testing. The termination of pregnancy for foetal malformation was called 'genetic abortion', in spite of the fact that in many cases the malformation does not result from changes in the genetic material of the cell. This study argues that the 'geneticization' of PND reflected the transformation of the meaning of the term 'genetics' in the 1960s and 70s. Such transformation was linked with the definition of Down syndrome as a genetic condition, and to the key role of search for this condition in the transformation of PND into a routine approach. The identification of PND with the polysemic term 'genetics' was also favoured by hopes that cytogenetic studies will lead to cures or prevention of common birth defects, the association of genetic counsellors with prenatal diagnosis, and the raising prestige of clinical genetics. In spite of the impressive achievements of the latter specialty, more than fifty years after the first prenatal diagnoses, the main 'cure' of a severe foetal malformation remains the same as it was in the 1960s: the termination of a pregnancy. The identification of PND with genetics deflects attention from the gap between scientists' capacity to elucidate the causes of numerous birth defects and their ability (as for now) to prevent or treat these defects, and favours the maintenance of a powerful regimen of hope.
产前诊断（PND）常常与基因检测划等号。因胎儿畸形而终止妊娠曾被称作“基因流产”，尽管事实上在很多情况下畸形并非由细胞遗传物质的变化所致。本研究认为，产前诊断的“基因化”反映了20世纪60年代和70年代“遗传学”这一术语含义的转变。这种转变与将唐氏综合征定义为一种基因病症有关，也与在将产前诊断转变为常规方法的过程中寻找这种病症所起的关键作用有关。产前诊断与多义术语“遗传学”的等同还受到以下因素的推动：人们希望细胞遗传学研究能带来常见出生缺陷的治愈或预防方法，遗传咨询师与产前诊断的关联，以及临床遗传学声望的提升。尽管后一专业取得了令人瞩目的成就，但在首次进行产前诊断五十多年后，严重胎儿畸形的主要“治疗方法”仍与20世纪60年代相同：终止妊娠。产前诊断与遗传学的等同转移了人们对科学家阐明众多出生缺陷病因的能力与其（目前）预防或治疗这些缺陷的能力之间差距的注意力，并有利于维持一种强大的希望机制。
