In a finding bringing hope to thousands of Australian couples, preventing birth defects and miscarriage could be as simple as supplementing a pregnant woman’s diet with Vitamin B3.
A landmark Australian study undertaken at the Victor Chang Cardiac Research Institute has identified a new cause of miscarriages and multiple types of congenital birth defects.
More importantly, though, it has identified a way to prevent them.
It comes in the form of niacin, otherwise known as Vitamin B3 and typically found in meats, leafy green vegetables and Vegemite.
Lead researcher Professor Sally Dunwoodie says the ramifications of the double breakthrough - hailed as the biggest since folic acid was identified as a preventative of neural tube birth defects and spina bifida in babies - are likely to be “huge”.
“This has the potential to significantly reduce the number of miscarriages and birth defects around the world,” she said on Thursday.
“Some 15,000 women in Australia every year have a child with a birth defect or they suffer from multiple miscarriages. This discovery brings hope to many of those women.”
Using whole exome sequencing technology, researchers looked for gene variants in families that had experienced multiple congenital malformations.
Identified was a gene mutation that caused a deficiency in a molecule critical to all living cells, known as nicotinamide adenine dinucleotide (NAD).
They found low levels of NAD crippled the growth of the embryo and led to miscarriage and birth defects in mice engineered with the same gene mutations as the study participants.
However the deficiency was cured through the supplementation of Vitamin B3 which is required to make NAD.
After the dietary change, both the miscarriages and birth defects were completely prevented, with all offspring born healthy.
“The science is not simple and it took 12 years but the beauty is the simplicity of the prevention, it’s cheap and its available,” said Prof Dunwoodie.
The findings are published in the prestigious New England Journal of Medicine and the research team is confident they will translate to humans.
Professor David Winlaw, a paediatric surgeon at The Children’s Hospital at Westmead says families affected by congenital heart disease should be encouraged by this “blockbuster” breakthrough.
“This is the biggest finding in congenital heart disease for at least 20 years,” Prof Winlaw said.
“The impact for the population will mean a very significant reduction in human misery in the early years of life, a very significant decrease in hospital admissions and cost of care,” he said.
Previous research has shown that at least a third of pregnant women have low levels of vitamin B3 in the first trimester or pregnancy.
Currently, the National Medical Research Council only recommends pregnant women take folic acid.
Prof Dunwoodie hopes Vitamin B3 will eventually be added to that list, but acknowledges more research is needed.
“We need to identify women at risk and then work out what would be a safe level of niacin for them to take to prevent miscarriages and birth defects,” she said.
In the meantime, women contemplating pregnancy are advised to take just the recommended multivitamins.