CHD patient baby

2022 Update on Historic Pregnancy Breakthrough

Research update: Clinical study underway to identify pregnant women at risk of miscarriages or birth defects

10 August 2022

An Australian first clinical study is underway to potentially identify pregnant women at risk of recurrent miscarriages or having a baby with birth defects.

The pregnancy study, led by Professor Sally Dunwoodie from the Victor Chang Cardiac Research Institute, hopes to help women experiencing adverse pregnancy outcomes.

Prof Sally Dunwoodie stands next to a statue of Dr Victor Chang in front on the Institute's Sydney laboratories.

The landmark clinical study builds on a historic breakthrough which discovered that a deficiency in a vital molecule, known as NAD, can cause birth defects and miscarriage in families.

Published in the prestigious New England Journal of Medicine, the 2017 study also revealed that NAD deficiency, birth defects and miscarriage can be successfully prevented in mice by giving vitamin B3 (niacin) supplements during pregnancy.

“These findings indicated that we have discovered not only an important cause of heart defects and miscarriages but also a possible way to prevent them. That’s hugely exciting!” explains Professor Dunwoodie.

“Now we need to identify the proportion of women who might have low NAD levels and could benefit from increasing their vitamin B3 intake.”

A diagnostic test to detect women at risk

To further this research, the team has spent the past five years scrutinizing NAD and vitamin B3 in painstaking detail, using world-best technology inside the Victor Chang Cardiac Research Institute’s Innovation Centre.

With this information, scientists have now developed a diagnostic test that can accurately measure NAD and vitamin B3 levels in women.

Professor Dunwoodie says, “The big question is: what is a healthy level of NAD in women of child-bearing age? If we can work out if someone has low levels of NAD, it could help us understand if they are at risk of miscarriage or of having a baby with a birth defect that affects the heart, vertebra, kidney or palette.”

Clinical study begins in Sydney

Following on from a successful pilot study, the Victor Chang Cardiac Research Institute, in collaboration with the Royal Hospital for Women, is now recruiting 250 women (aged 20-40 years), to take part in a clinical study in Sydney.

Midwife Jennifer Goth with a pregnant particpant in our NADIP study

This pregnancy study (officially known as the NADIP Study), will measure the NAD levels of five groups of women, including both pregnant and non-pregnant women, by screening urine and blood samples.

The samples will then be analysed in the Institute’s Innovation Centre, using cutting-edge mass spectrometry technology.

“It’s a huge team effort to run this clinical study. We are working with doctors, midwives, epidemiologists and many dedicated scientists to collect information, take measurements and analyse these data from the women participating in the study.”

What happens next?

Once the team has established the healthy range of NAD in women, and has identified a link between low NAD levels and adverse pregnancy outcomes, then a study will be conducted to measure the effects of vitamin B3 supplementation.

Professor Dunwoodie says, “We really want to take this research to a point where women can benefit from our years of research and our important findings. This will take more dedicated time and of course much more funding.”

“We are driven by the belief that this research may save families the heartbreak of having a baby born with a life threatening birth defect.”

A team effort

This vital work would not be possible without the dedication and hard work of many.

The NADIP Study research team

Victor Chang Cardiac Research Institute
Prof Sally Dunwoodie
, Head, Embryology Laboratory
Dr Hartmut Cuny, Senior Postdoctoral Sscientist
Delicia Sheng, Senior Research Assistant
Alena Sipka, Research Assistant

External collaborators

Professor Natasha Nassar, Perinatal and Paediatric Epidemiologist, University of Sydney
Dr Antonia Shand, Maternal and Fetal Medicine Specialist, Royal Hospital for Women
Jennifer Goth, Midwife, Royal Hospital for Women
Olga Aleshin, Midwife, Royal Hospital for Women

This project is funded by

NSW Health
National Health and Medical Research Council
Philanthropic donations

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For all media enquiries and interview requests, please contact:

Julia Timms
Head, Media & Communications
0457 517 355

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