According to the Centers for Disease Control and Prevention (CDC), 3 percent of all babies born in the United States have a birth defect, and birth defects also account for 20 percent of all newborn deaths.
Miscarriages are always a traumatic event in the life of new parents, and the causes for pregnancy loss are not always straightforward. Often, they are linked to genetic factors or the impact of lifestyle.
Prof. Sally Dunwoodie, from the Victor Chang Cardiac Research Institute in Sydney, Australia, has pioneered a study with astounding implications: she and her team of researchers have identified a key factor behind some miscarriages and congenital malformations of the heart, spine, kidneys, and cleft palate.
Not only this, but they also found a simple and accessible remedy that could, in some cases, prevent both pregnancy loss and birth defects.
“The ramifications are likely to be huge. This has the potential to significantly reduce the number of miscarriages and birth defects around the world, and I do not use those words lightly,” insists Prof. Dunwoodie.
An article detailing the results of the study was published in The New England Journal of Medicine.
The researchers traced the cause of a number of abnormal embryonic developments to a deficiency in nicotinamide adenine dinucleotide (NAD), a molecule that plays a key role in metabolic regulation.
NAD is involved in energy production and boosting cell survival, as well as supporting DNA repair. However, NAD production can be inhibited by some genetic factors, chronic diseases (such as diabetes), or an unhealthful diet, leading to NAD deficiency.
To begin with, the study specifically focused on families exhibiting a rare condition referred to as “VACTERL.” This condition refers to people born with at least three of the following anomalies: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, or limb abnormalities.
Prof. Dunwoodie and her team initially found that a shortage of NAD can negatively impact embryo formation in the cases of populations exhibiting VACTERL, resulting in miscarriages or birth defects in the baby. However,
after conducting their project over a period of 12 years, they concluded that an NAD deficiency might also explain other cases of miscarriage and congenital malformations.
But the researchers point out that there might be relatively simple solution to this predicament. A key element in NAD is synthesis is niacin, a vitamin B-3 complex available as a dietary supplement.
A sustained intake of B-3 complex supplements, Prof. Dunwoodie and her colleagues suggest, can effectively prevent miscarriages and birth defects such as spina bifida and other vertebral segmentation malformations, as well as some heart and small kidney defects.
“Now, after 12 years of research, our team has […] discovered that this [NAD] deficiency can be cured and miscarriages and birth defects prevented by taking a common vitamin,” says Prof. Dunwoodie.
There is one problem, however. According to an existing study, a significant number of expectant mothers tend to have a vitamin B-3 deficiency during the first trimester of pregnancy, despite taking supplements. This is particularly important, because organ development in the womb is kick-started at that time.
This, the researchers explain, may mean that pregnant women require an even higher vitamin B-3 intake than the quantities obtainable through current vitamin supplements.
Prof. Dunwoodie and her team studied the effect of niacin on developing embryos in a preclinical mouse model, and they were pleased to note that, after the vitamin B-3 complex was appropriately introduced into the expecting mother’s diet, miscarriages no longer occurred. Moreover, all the babies were born healthy, with no congenital malformations.
Prof. Robert Graham, executive director of the Victor Chang Institute, highlights the tremendous importance of these findings, comparing the discovery with another groundbreaking medical revelation in the perinatal context.
“Just like we now use folate to prevent spina bifida, Prof. Dunwoodie’s research suggests that it is probably best for women to start taking vitamin B-3 very early on, even before they become pregnant. This will change the way pregnant women are cared for around the world.”
The researchers say that developing a test to measure levels of NAD in expecting mothers’ bodies will now come next. This will allow practitioners to identify which women risk having a miscarriage or delivering a baby with a congenital malformation, and who therefore need to take more B-3 supplements in pregnancy.
For the time being, they urge expectant mothers to only take B-3 supplements as advised by their doctors, especially since it is still unclear what exact doses of vitamin B-3 would actually help to prevent miscarriages and malformations in each case.
Greg Hunt, Australia’s Minister for Health and Sport, highly commended the researchers’ landmark study, calling it “a simple solution and yet a truly profound result” and extending his congratulations to “Prof. Sally Dunwoodie and her colleagues on this incredible discovery.”
Prof. Dunwoodie and her colleagues’ project was partly funded by the National Health and Medical Research Council of Australia, and partly by private grants and fellowships.
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