How genetics came to the unborn: 1960–2000

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Highlights

  • In the 1970s, prenatal diagnosis (PND) became quasi synonymous with genetic testing.

  • ‘Geneticization’ of PND reflected the transformation of the meaning of the term ‘genetics’.

  • Genetic counsellors played a key role in the transformation of PND.

  • A focus on ‘genetics’ masked practices linked with real-life prenatal diagnosis.

  • Geneticization of the unborn favoured the maintenance of a powerful regimen of hope.

Abstract

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.

Section snippets

Congenital malformations before 1960s: heredity vs. environment

In the late 1960s, physicians acquired the capacity to see ‘what is about to be born’.1 At the same time, the liberalization of abortion in the majority of Western countries made possible the legalization of the termination of pregnancy for foetal conditions that produce severe disability (Löwy, in press).2

1960s: chromosome anomalies and inborn defects

The year 1959 has been presented as a turning point for the domain of clinical genetics (Harper, 2006). That year researchers had found out that several congenital malformations: Down syndrome, Klinefelter syndrome and Turner syndrome, were aneuploidies—they were caused by the presence of an abnormal number of chromosomes (Christie and Zallen, 2002, Harper, 2006). Geneticists were aware of the fact that conditions such as haemophilia could occasionally arise from de novo mutations (i.e.

Down syndrome and the generalization of PND

In the early 1960s, studies of chromosomes were seen by some of the actors mainly as an academic topic.21 In 1962, Klaus Patau wrote to Dr. Sheldon Reed from the department of zoology of University of Minnesota, who advised a mother of a mongoloid boy to ask Patau to perform a ‘chromosome test’. He explained that their laboratory was dedicated exclusively to fundamental research, and added, “I believe, the present

Genetic counselling and PND: an uneasy symbiosis

In the early days of PND, many physicians were not aware of the distress produced by a termination of pregnancy for foetal indications. At that time, many professionals viewed the abnormal foetus as a ‘problem‘ and its removal as a ‘solution’. For example, Helen Brooke Taussig, a celebrated US paediatric cardiologist who fought for legalization of abortion for foetal indications, explained that, “it does not make any difference whether your child was one year older or younger, compared to

Genetics and uncertainty in dysmorphology clinics

Between 2% and 3% of all children are born with congenital malformations, a percentage that was not notably affected by the spread of PND. Some inborn conditions were easily identified and classified, but others did not fit well into already existing categories. Parents of children with inborn health problems of unknown origin often consulted dysmorphology clinics. The term ‘dysmorphology’, which accentuated morphological and visible deviations from the norm, was coined by Patau's and Therman's

Geneticization of the unborn as a technology of hope37

Two tests played a key role in the rise of ‘genetic testing’: the Guthrie test, which identified phenylketonuria (PKU) in newborns, and the prenatal diagnosis of trisomy 21. From the 1980s on, diagnosis of PKU in newborns was presented as the first large scale ‘genetic test’, which produced a paradigm shift in medical thinking: the demonstration that such a test could lead to a cure of a hereditary

Acknowledgements

I am thankful to all the participants of the international workshop “Making human heredity: populations and public health in the postwar era.” Cambridge, UK, 28–30 June 2012, for their discussion of the first version of this paper and stimulating ideas, to Jenny Bangham and Soraya de Chadarevian for their excellent editorial contributions and to all my colleagues from the program “Les enjeux du diagnostic prénatal dans la prevention des handicaps: l'usage des techniques entre progrès

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