Professor Sally Dunwoodie

2021 Update on Historic Pregnancy Breakthrough

An Update on Professor Sally Dunwoodie's Historical Breakthrough in Pregnancy and Birth Defects

10 August 2021

On this day four years ago, Professor Sally Dunwoodie world-first groundbreaking discovery that was said to potentially change the way pregnant women are cared for around the globe was published in the most prestigious clinical research publication in the world, The New England Journal of Medicine.

Around one in 100 babies are born with congenital heart disease. That’s 42 children every single week in Australia. The cause of the vast majority of cases remains unknown but scientists at Victor Chang Cardiac Research Institute found a genetic cause for various heart birth defects and crucially, a possible way to prevent some cases.

Professor Sally Dunwoodie’s discovery of the potential of vitamin B3 to prevent complex birth defects

Her landmark study published in the New England Journal of Medicine in 2017 found that a deficiency in a vital molecule, known as NAD, prevents a baby's organs from developing correctly in the womb. The study first examined the entire genome of 97 patients with congenital heart disease and identified a genetic cause in 29 of these families. Three families shared a common cause and mouse models showed that the heart will form correctly if the mother’s diet is supplemented with vitamin B3 (or niacin), which can boost the levels of NAD in the body.

Outcomes and impact

Professor Dunwoodie and her team are now trying to identify the proportion of women who might be low in NAD levels and would potentially benefit from increasing their vitamin B3 intake. The next step will be to develop a diagnostic test to measure NAD levels to identify those women who are at greatest risk.

Every year 4.9 million babies are born with a serious birth defect worldwide. The study established genetic causes for almost a third of all cases of congenital heart disease which could improve outcomes for many hundreds of thousands of families.

Vital work to examine the cause of the remaining unknown cases is ongoing at the Institute.

Collaboration and funding

Professor Sally Dunwoodie’s congenital heart disease research spans over 12 years and has been supported by NSW Health. This study would not have been possible without the support of NSW Health, the Chain Reaction Foundation, Channel 7 Telethon Trust, the Key Foundation and the National Health and Medical Research Council.

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Acknowledgement of Country

The Victor Chang Cardiac Research Institute acknowledges Traditional Owners of Country throughout Australia and recognises the continuing connection to lands, waters and communities. We pay our respect to Aboriginal and Torres Strait Islander cultures; and to Elders past and present.

Victor Chang Cardiac Research Institute - The Home of Heart Research for 30 Years