In the time it takes you to read this article, a baby will be delivered in the United States with a birth defect. That’s about 120,000 every year. For the many individuals with severe cases, childhood and beyond becomes a struggle with mental or physical disabilities, hospital visits and day-to-day worries. And that is in one of the world’s richest countries. In low- or middle-income countries, surveillance of birth defects is often absent or so weak that health authorities simply don’t know the scale of the problem, making it difficult to develop appropriate prevention measures and care.
The harsh realities of birth defects are shown in recent photographs of babies born in Brazil with abnormally small heads — a condition called microcephaly that seems to be linked to the mosquito-borne disease Zika. The threat of the Zika virus has put birth defects on the political and public-health agenda in a way not seen since the rubella virus (the cause of German measles) led to a pandemic of such defects in the mid-1960s.
Zika therefore provides an opportunity to greatly raise awareness of birth defects, and to bolster support for research and improved public-health action on their many other preventable causes. Researchers must urgently make this case to funders and their political paymasters before the flurry over Zika inevitably ebbs.
One target should be the eradication of rubella. It is a scandal that, worldwide, some 100,000 babies are born annually with congenital rubella, despite the availability of a cheap and effective vaccine. The virus spreads slowly and is a low-hanging fruit for eradication through accelerating vaccination in poorer countries.
Another easy target is the compulsory addition of folate vitamins to food staples to protect against neural-tube defects, such as spinal bifida, in developing fetuses. Despite a wealth of evidence that compulsory fortification works, as well as its adoption in the United States, most countries (including all European ones) have yet to follow suit.
The longer-term challenge is to develop the research infrastructure needed to find and prevent the causes of birth defects — in particular because a whopping three-quarters of occurrences have no identified cause. Some will prove to be random events, and others will have genetic or multifactorial origins, but it is likely that many are down to environmental or infectious exposures that public-health authorities can do something about.
This sort of research requires long-term commitment and investment, and the nurturing of highly specialized research communities. Of all the types of epidemiological research, studies of birth defects are perhaps the most difficult. Although their combined human and public-health impact is enormous, individual congenital abnormalities are relatively rare in comparison with, say, lung disease. This means that population-scale databases are needed to capture and record birth defects, and to achieve adequate statistical power.
Amid the political climate of Brexit, there is a certain irony that one of the most developed surveillance systems for birth defects, the European Surveillance of Congenital Anomalies (EUROCAT), was conceived with far-sighted vision in 1974 by the then European Economic Community in the wake of the tragedies of rubella and the drug thalidomide. Such registries may seem mundane, but they are crucial if we are to underpin exploration of the causes and risk factors of congenital anomalies and to provide an early-warning system for new causes of birth defects.
Birth defects should be a top public-health priority to protect the youngest and most vulnerable members of our society. It is staggering in 2016 that they are not.
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