[The Emergence of Genetic Prenatal Diagnosis from Environmental Research : On a Methodological Shift in Prevention Around 1970]

NTM. 2019 Mar;27(1):39-78. doi: 10.1007/s00048-019-00207-w.
[Article in German]

Abstract

The history of genetic prenatal diagnosis has so far been analyzed as a part of the history of human genetics and its reorientation as a clinical and laboratory-based scientific discipline in the second half of the 20th century. Based on new source material, we show in this paper that the interest in prenatal diagnosis also arose within the context of research on mutagenicity (the capacity to induce mutations) that was concerned with environmental dangers to human health. Our analysis of the debates around the establishment of the German Research Foundation's (DFG) research program "Prenatal Diagnosis of Genetic Defects" reveals that amniocentesis was introduced in Western Germany by a group of scientists working on the dangers for the human organism caused by radiation, pharmaceuticals, and other substances and consumer goods. We argue that, in a period of growing environmental concern, the support of prenatal diagnosis aimed to close a perceived gap in the prevention of environmental mutagenicity, i. e. genetic anomalies induced by environmental factors. The expected financing of prenatal diagnosis by health insurance in the course of the reform of abortion rights was used as another argument for the new technology's introduction as a "defensive measure". Only in a second step did changes in research structures, but most importantly experience from gynecological practice lead to a reframing of the technology as a tool for the diagnosis and prevention of mostly genetic or spontaneously occurring anomalies. Eventually, prenatal diagnosis, as it became routinely used in Western Germany from the early 1980s onward, had little to do with "environmental" questions. This case study of the early history of genetic prenatal diagnosis analyzes the still poorly researched relationship between research in human genetics, environmental research and medical practice. Furthermore, we aim to shed new light on a shift in perspective in prevention around 1970 that has so far been described in different contexts.

Keywords: Environmental Research; Human Genetics; Prenatal Diagnosis; Prevention; Reproduction.

Publication types

  • Historical Article

MeSH terms

  • Environmental Exposure / adverse effects
  • Environmental Exposure / history
  • Environmental Science / history*
  • Genetic Diseases, Inborn / genetics
  • Genetic Diseases, Inborn / history*
  • Genetic Diseases, Inborn / prevention & control
  • Genetic Research / history*
  • History, 20th Century
  • Humans
  • Mutagenesis
  • Prenatal Diagnosis / history*