Imperfect Pregnancies: A History of Birth Defects and Prenatal Diagnosis

Imperfect Pregnancies: A History of Birth Defects and Prenatal Diagnosis. Ilana Löwy, Baltimore: Johns Hopkins University Press, 2017, 277 pp.

Contemporary expectations and experiences of pregnancy are influenced in no small part by prenatal diagnosis. Imperfect Pregnancies traces the history of prenatal diagnosis from the 1960s to the present. The focus is on what author and medical historian Ilana Lowy calls the prenatal diagnosis dispositif, following Michel Foucault, or the contexts and conditions that make prenatal diagnosis doable, thinkable, and desirable, particularly in industrialized societies. Thus, this account not only describes the development and application of medical technologies and techniques but also discusses them in connection with the research agendas of scientists, the concerns and demands of patients, and the interests of clinicians, which, in turn, are shaped by ethical and legal discourses and practices.

As Löwy tells it, the history of prenatal diagnosis involves “the integration of heterogeneous technology into a coordinated pattern of scrutiny of the fetus” (p. 10). Reviewing the medical literature, she notes an earlier emphasis on malformations that are physical and visible. Karyotyping, in turn, renders genetic anomalies visibly detectable by producing an image of an individual’s chromosomes. Ultrasound imaging, which became routinely used in the 1980s, provides a view of the fetus. Combining it with amniocentesis and serum testing extends the ability to see defects before the birth of an affected child.

The prevention of infant deaths motivated earlier attempts at prenatal diagnosis in North America and Europe in the late 19th and early 20th centuries, as discussed in Chapter One. What were termed monstrous births came to be conceptualized instead as birth defects, the causes of which could be identified and which also might be remedied. Medical supervision of women during pregnancy and parturition became promoted as an important means of preventing birth defects. However, preventing the births of children with these defects also became another approach and aim, especially given the gaps between diagnosis and therapy. Löwy’s account both acknowledges certain successes of prenatal diagnosis, such as the detection of maternal-fetal Rh factor incompatibility, as well as squarely faces the moral quandaries. The history of prenatal diagnosis is intertwined with the history of eugenics, which continues to cast its pall over current anxieties about a brave new world of designer babies and flawless children and which the disability rights movement has emerged to counter.

While scientists first observed chromosomes as early as 1842, it was not until the development of new methods of staining human chromosomes in 1956 that cytogenetic studies became possible. Löwy considers these in Chapter Two. While there now existed the possibility of directly analyzing the chromosomes of the fetus and detecting the presence of anomalies, it remained challenging to obtain the material to screen in the first place. Amniocentesis enabled the collection and culturing of fetal cells in amniotic fluid, but it also was associated with an increased risk for miscarriage. (The risk is much lower today, but still exists.) As a result, the procedure initially had been performed only on women with individual or family histories of children born with impairments. In other words, it was a test for hereditary diseases given to individuals who had known and elevated risks. With technical improvements, amniocentesis became recommended as a screening for Down syndrome to women of medically defined advanced maternal age (35 years or older). Löwy describes this technical shift as radically changing the nature of prenatal diagnosis.

Factoring into this history are not only scientific developments but also social ones, in particular, the legalization of abortion, as Löwy discusses in Chapter Three. Indeed, what makes prenatal diagnosis controversial is the question of what to do with a diagnosis, especially when not every situation identified as a medical problem has a known solution other than the termination of the pregnancy itself. Women in Scandinavia and in Japan already could obtain abortions legally in 1960, but in North America and western Europe, abortion became decriminalized in the wake of the thalidomide scandal of 1961 and the German measles epidemic of 1962–64, both of which were linked to major fetal malformations and impairments. In tandem with changes in attitude toward abortion were shifts in perception of the “unacceptable” fetus (p. 78).

Indeed, Löwy documents significant alterations, over time, in both the technologies and techniques used in prenatal diagnosis and the problems it is intended to detect. Down syndrome and mental disabilities are the topics of Chapter Four. Initially, Down syndrome became a focus of interest for epidemiologists, who argued that the burdens and costs were born unequally among lower- versus upper-income families, in part due to restricted access to amniocentesis. Löwy calls attention to the economics of prenatal diagnosis, noting the involvement of national health plans, insurance companies, and the makers and marketers of medical instruments and other products in pursuing serum testing and pushing for the expansion of its use.

Turner syndrome, Kleinfelter syndrome, and other sex chromosome aneuploidies are the topic of Chapter Five. Löwy discusses a push in the 1970s for the generalized screening of infants on the grounds that early diagnosis led to early intervention (in the form of hormone and behavior therapies). This movement gave way instead to training clinicians to recognize early symptoms. At that time, there was particular concern with the association of XYY karyotype and aggressive and criminal behavior. Löwy notes today that there is interest in the link between Kleinfelter syndrome and psychiatric conditions including autism.

In Chapter Six, she reports on non-invasive prenatal testing (NIPT), which collects fetal cells circulating in maternal blood. Originally designed to improve testing for Down syndrome and released in the last decade, NIPTs such as the Panorama test are marketed to identify the deletions and mutations associated with a range of syndromes, including rare ones. Löwy offers the example of DiGeorge syndrome, which is associated with schizophrenia, to weigh the potential benefits of NIPTs against the arguments of disability rights advocates.

In all, Imperfect Pregnancies provides a thoughtful history of prenatal diagnosis as it is performed and practiced today. It will be an especially useful resource for scholars, researchers, and advocates working on issues of reproduction. In addition, this account of prenatal diagnosis will be instructive to others interested in science, technology, and culture.