Making birth defects 'preventable': pre-conceptional vitamin supplements and the politics of risk reduction.

Since the mid-1990s, governments and health organizations around the world have adopted policies designed to increase women's intake of the B-vitamin 'folic acid' before and during the first weeks of pregnancy. Building on initial clinical research in the United Kingdom, folic acid supplementation has been shown to lower the incidence of neural tube defects (NTDs). Recent debate has focused principally on the need for mandatory fortification of grain products with this vitamin. This article takes a longer view, tracing the transformation of folic acid from a routine prenatal supplement to reduce the risk of anaemia to a routine 'pre-conceptional' supplement to 'prevent' birth defects. Understood in the 1950s in relation to social problems of poverty and malnutrition, NTDs were by the end of the century more likely to be attributed to individual failings. This transition was closely associated with a second. Folic acid supplements were initially prescribed to 'high-risk' women who had previously borne a child with a NTD. By the mid-1990s, they were recommended for all women of childbearing age. The acceptance of folic acid as a 'risk-reducing drug' both relied upon and helped to advance the development of preventive and clinical practices concerned with women's health before pregnancy.

Apparent prevention of neural tube defects by periconceptional vitamin supplementation. 1981.

An earlier preliminary paper is expanded. Women who had given birth to one or more infants with a neural tube defect were recruited into a trial of periconceptional vitamin supplementation. Two hundred mothers attending five centres were fully supplemented (FS), 50 were partially supplemented (PS), and 300 were unsupplemented (US). Neural tube defect recurrences in the study pregnancies were 1(0.5%), in FS, none in PS, and 13 (4%) in US mothers. The difference in outcome between FS and US mothers is significant. The most likely explanation is that supplementation has prevented some neural tube defects, but further studies are needed.

Cats, frogs, and snakes: early concepts of neural tube defects.

Disturbed neurulation fascinated scientists of all times. In Egypt, anencephalic infants were venerated as animal-headed gods. Roman law required them to be killed. The medieval world held the mother responsible, either because of assumed imagination or "miswatching," or because of suspected intercourse with animals or devils. Modern embryology and teratology began with the use of the microscope by Malpighi in 1672. Details of neural tube closure were described by Koelliker in 1861 and by His in 1874. From 1822, genetic disease and familial recurrence due to insufficient nutrition were discerned and lower social class identified as a risk factor. It took a century to define the malnutrition as insufficient folate intake. The mandatory supplementation of folate in staple foods successfully reduced the incidence of neural tube defects in the United States, Australia, Canada, and Chile, but it was not adopted by most European countries.

Folic acid food fortification-its history, effect, concerns, and future directions.

Periconceptional intake of folic acid is known to reduce a woman's risk of having an infant affected by a neural tube birth defect (NTD). National programs to mandate fortification of food with folic acid have reduced the prevalence of NTDs worldwide. Uncertainty surrounding possible unintended consequences has led to concerns about higher folic acid intake and food fortification programs. This uncertainty emphasizes the need to continually monitor fortification programs for accurate measures of their effect and the ability to address concerns as they arise. This review highlights the history, effect, concerns, and future directions of folic acid food fortification programs.

Neural tube defect in a 4000-year-old Egyptian infant mummy: a case of meningocele from the museum of anthropology and ethnography of Turin (Italy).

This paper reports a paleopathological study of a severe neural tube defect in an ancient mummy, more specifically, a meningocele in an Egyptian infant from the XI dynasty (2100-1955B.C.). This is one of the most ancient cases of meningocele in mummified human remains described in paleopathological literature. Prehistoric and early historic examples of severe congenital defects of the vertebral column and neural tube are rare, because of the precarious preservation conditions of ancient human remains. Further, since the majority are only the skeletal remains, paleopathological and paleoepidemiological analysis based on the observation of bones is even more difficult. Hence, it is not easy to investigate this disease in the past in all its complexities and true diffusion. The case presented here is peculiar, since it concerns a mummy with almost all soft tissues preserved, thus allowing us to describe the defect in an infant. Only targeted, minimally invasive examinations were performed. An anthropological investigation with helical CT scan and histological analysis was used to diagnose the defect and identify post-mortem transformation processes. The analyses confirmed the diagnosis of meningocele in an approximately six-month-old infant.