Miscarriage breakthrough: It could save thousands of lives
SCIENTISTS in Sydney have made a world first breakthrough in pregnancy research that is expected to save thousands of lives by preventing miscarriages and multiple types of birth defects.
The research team at Victor Chang Cardiac Research Institute has also found a remarkably simple cure - a common dietary supplement that contains niacin, one of key elements of Vegemite.
The historic discovery, believed to be among Australia's greatest ever medical achievements, is expected to forever change the way pregnant women are cared for around the globe.
Professor Sally Dunwoodie from the Victor Chang Institute has identified a major cause of miscarriages as well as heart, spinal, kidney and cleft palate problems in newborn babies.
"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 say those words lightly," Prof Dunwoodie said.
Every year 7.9 million babies are born with a birth defect worldwide and one-in-four pregnant women will suffer a miscarriage in Australia. In the vast majority of cases the cause of these problems has remained a mystery. Until now.
The landmark study found that a deficiency in a vital molecule, known as NAD, prevents a baby's organs from developing correctly in the womb.
Nicotinamide adenine dinucleotide (NAD) is one of the most important molecules in all living cells. NAD synthesis is essential for energy production, DNA repair and cell communication. Disrupting its production causes a NAD deficiency.
The Victor Chang researchers have found this deficiency is particularly harmful during a pregnancy as it cripples an embryo when it is forming.
Prof Dunwoodie said: "Now after 12 years of research, our team has also discovered that this deficiency can be cured and miscarriages and birth defects prevented by taking a common vitamin."
At the heart of the paramount discovery is the dietary supplement vitamin B3, also known as niacin.
Scientists at the Victor Chang Institute have discovered how to prevent miscarriages and birth defects by simply boosting levels of the nutrient during pregnancy.
Vitamin B3 is typically found in meats and green vegetables as well as vegemite. However, a recent study found that despite taking vitamin supplements at least a third of pregnant women have low levels of vitamin B3 in their first trimester, which is the critical time in organ development.
By the third trimester, vitamin B3 levels were low in 60 per cent of pregnant women. Researchers said this indicated pregnant women may require more vitamin B3 than is available in most vitamin supplements.
Using a preclinical model, scientists at the Victor Chang Institute investigated the effect of vitamin B3 on developing embryos. The results were astounding.
Before vitamin B3 was introduced into the mother's diet embryos were either lost through miscarriage or the offspring were born with a range of severe birth defects. After the dietary change both the miscarriages and birth defects were completely prevented with all the offspring born perfectly healthy.
The discovery is akin to the revolutionary breakthrough last century that confirmed folic acid supplementation could prevent spina bifida and other neural tube defects in babies.
As a result, consumption of folic acid has been adopted by expectant mothers worldwide and the addition of folate to the food supply has led to a 70 per cent decrease in the number of babies born with neural tube defects.
Executive director of the Victor Chang Cardiac Research Institute, Professor Robert Graham, said the implications were profound.
"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 B3 very early on even before they become pregnant," he said.
"This will change the way pregnant women are cared for around the world.
"We believe that this breakthrough will be one of our country's greatest ever medical discoveries. It's extremely rare to discover the problem and provide a preventive solution at the same time. It's actually a double breakthrough."
The next step will be to develop a diagnostic test to measure NAD levels. This will enable doctors to identify those women who are at greatest risk of having a baby with a birth defect and ensure they are getting sufficient vitamin B3.
The findings have been released today by the prestigious New England Journal of Medicine.
Head of cardiac surgery at The Children's Hospital at Westmead Prof David Winlaw, who operates on up 600 children with heart problems every year, said: "We are really excited about these findings.
"We don't have a cause for many children and families who suffer from congenital heart disease - 80 per cent are unaccounted for.
"This work starts to address why this might have happened to families.
"Here we have a study that describes an interaction between genetic problems and the environment and provides a way of understanding lots of congenital anonamlies, not just congenital heart disease, and provides a new way of thinking about the cause of these problems which for many kids are a lifelong issue."
Prof Winlaw said Prof Dunwoodie's research had every chance of being "just as relevant" as the folate breakthrough,
"But there is further work to do - we need to do further studies in humans to understand the levels of niacin throughout pregnancy and at the critical time when organs are forming in the embryo," he said.
"At this point we would not recommend taking any more niacin than what is in a regular pregnancy multivitamin because we don't have the evidence to show it is beneficial or that it would not be a problem.
"More work is required before we are able to provide a recommendation."
TWO-year-old Charlotte Scaife, born with a hole in her heart and leaking valves, is among the hundreds of children given a chance at life by Prof Winlaw at Westmead.
During a four hour operation to patch the 2cm hole and repair her leaking valves Charlotte required a heart-lung bypass in which her little heart was drained of blood.
She was kept alive by a machine that pushed blood around her body.
After emerging with flying colours Charlotte had an emotional reunion with her mum Saasha and dad Simon in the children's heart unit and was given the all clear to go home on July 24.
"She is doing very well - we are so pleased with the outcome and the surgeons did such a great job," Ms Scaife of North Willoughby said.
"Charlotte had a serious heart condition that was picked up on the first day she was born (at Royal North Shore Hospital).
"We were hoping that nothing would go wrong. She was living with it, they (doctors) were waiting to see if the hole grew with Charlotte or stayed the same size. Unfortunately the hole grew with her and got to the stage where they said it was time to operate.
"It was worrying living with it - day to day it didn't impact on our lives too much but she would get puffed out and tire quite easily.
"It was always hanging over our heads, worrying us and every time she would get a cold it would turn into bronchitis or a chest thing. We are very relieved to get it (the operation) done this year."
Charlotte is now expected to develop normally but doctors will keep a close eye on her to see that everything is going well.
Ms Scaife said she had no idea so many children and families were affected by congenital heart defects.
"If we can prevent this from happening it will be a major breakthrough for everyone," she said.
"I was worried that I had done something (wrong) or not done something but I was told it wasn't anything that I did or didn't do. It was more to do with genetics.
"It is going to make a very big difference to a lot of people, like spina bifida which you don't hear much about now because of folate.
"We have nothing but praise for the team at Westmead, they have done am amazing job.
"Young children recover a lot faster than adults and within a week can be up and moving around.
"Charlotte is certainly sore and not doing her normal activities but she is still playing and moving around."
* 1 in 4 pregnant women will suffer a miscarriage
* 7.9 million babies are born with a serious birth defect worldwide every year
* 3.3 million children under five die from serious birth defects annually
* Congenital heart disease is the most common form of birth defect affecting 1 in 100 babies
* 42 babies are born with a heart defect in Australia every week
* 30 babies will undergo heart surgery in Australia every week
* Heart defects account for 30 per cent of deaths in children under five