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Non-invasive prenatal testing (NIPT) is grounded in the analysis of free circulating fetal DNA (cfDNA) in pregnant women's blood. The rolling out of this screening method was in large part driven by commercial firms, which hoped to reach a huge potential market by offering a test that was expected to be risk-free, reliable, inexpensive, and able to detect a wide range of genetic traits of the future child. To date, most predictions about the scope and uses of NIPT have not materialized: in 2020 NIPT detects only a limited number of genetic anomalies, while results have to be confirmed by amniocentesis. NIPT has become a commercial success. Nevertheless the implementation of NIPT has tended to diverge across different national settings. In countries that already have state-sponsored screening for Down risk, NIPT has been offered by the state health insurance to women defined as "high risk", using a variant of the test that detects only three autosomal aneuploidies: trisomy 21, 13 and 18. These countries effectively regulate the supply of NIPT on grounds of cost-effectiveness and reliability. In countries without state-sponsored screening for Down risk, in contrast, multiple versions of NIPT covering a wider range of birth defects are commonly available on the free market, and purchased by women at low as well as high risk of having an affected child. Market-based healthcare systems tend to present women who can afford to pay for NIPT with a largely unregulated choice of technologies - though reimbursement rules imposed by private insurance providers may serve in effect to regulate use by those consumers who cannot afford to pay for tests from their own pockets. This regulatory divergence is shaped by the presence or absence of prior state-sponsored screening programs for Down risk., (Copyright © 2020 Elsevier Ltd. All rights reserved.)

Prenatal diagnosis was developed in the 1970s, a result of a partly contingent coming together of three medical innovations-amniocentesis, the study of human chromosomes and obstetrical ultrasound-with a social innovation, the decriminalization of abortion. Initially this diagnostic approach was proposed only to women at high risk of fetal malformations. Later, however, the supervision of the fetus was extended to all pregnant women. The latter step was strongly favoured by professionals' aspiration to prevent the birth of children with Down syndrome, an inborn condition perceived as a source of suffering for families and a burden on public purse. Experts who promoted screening for 'Down risk' assumed that the majority of women who carry a Down fetus will decide to terminate the pregnancy, and will provide a private solution to a public health problem. The generalization of screening for Down risk increased in turn the frequency of diagnoses of other, confirmed or potential fetal pathologies, and of dilemmas linked with such diagnoses. Debates on such dilemmas are usually limited to professionals. The transformation of prenatal diagnosis into a routine medical technology was, to a great extent, an invisible revolution., (Copyright © 2013 Elsevier Ltd. All rights reserved.)

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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. [ABSTRACT FROM AUTHOR]