The human autonomous karyotype and the origins of prenatal testing: Children, pregnant women and early Down's syndrome cytogenetics, Madrid 1962-1975

Abstract

Through their ability to reveal and record abnormal chromosomes, whether inherited or accidentallyaltered, chromosomal studies, known as karyotyping, became the basis upon which medical genetics wasconstructed. The techniques involved became the visual evidence that confirmed a medical examinationand were configured as a material culture for redefining health and disease, or the normal and theabnormal, in cytological terms. I will show that the study of foetal cells obtained by amniocentesis led tothe stabilisation of karyotyping in its own right, while also keeping pregnant women under the vigilantmedical eye. In the absence of any other examination, prenatal diagnosis by foetal karyotyping becameautonomous from the foetal body. Although medical cytogenetics was practiced on an individual basis,data collected about patients over time contributed to the construction of populationfigures regardingbirth defects. I study this complex trajectory by focussing on a Unit for Cytogenetics created in 1962 atthe Clínica de la Concepción in Madrid. I incorporate the work and training of the clinicians who createdthe unit, and worked there as well as at other units in the large new hospitals of the national health caresystem built in Madrid during the mid-1960s and early 1970s.