How genetics came to the unborn: 1960–2000
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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