For the first time in history, researchers are showing a link between genetic and environmental causes that lead to birth defects. It has been long assumed that most birth defects were the result of either genetic factors or environmental ones. This study shows that the two feed off of each other to increase the chances of a child being born with a congenital birth defect.
The study was conducted by a group of scientists in Australia from the Victor Chang Cardiac Research Institute (VCCRI), but there were other scientists across the globe involved in the research. The study aimed to show how nature and nurture interact in a pregnant mother to increase the risk of birth defects like heart, kidney and brain abnormalities, as well as anatomical abnormalities, such as limb and cranio-facial (cleft palate) deformations.
The research shows that hypoxia can combine with genetic risk factors to dramatically increase the chances that a baby would be born with congenital scoliosis, a spine malformation. Perinatal hypoxia is a period of low oxygen during pregnancy and is cited as a cause of birth injuries.
The study’s senior author, Sally Dunwoodie of the VCCRI and the University of New South Wales, believes the research brings the world closer to understanding how birth defects happen and potentially even how to stop them.
“This research is hugely exciting and will help us to genetically diagnose a whole range of birth defects, and give advice to women on how and when to avoid certain activities when pregnant,” Dunwoodie said through a press release. “We hope it will eventually lead to the development of therapeutics to stop these defects occurring in the first place.”
The research stops short of establishing which environmental and genetic factors may combine to lead to specific birth defects. However, the study underscores the importance of minimizing environmental risks in people who have underlying genetic issues.
“This study provides a new paradigm for the interaction between our genes and environment, and may account for a lot of diseases that we haven’t understood before, such as many different forms of congenital heart disease, and conditions like cleft palate,” said Bob Graham, the cardiac institutes executive director.
Researchers have been bold enough to say that this study could pave the way for expectant mothers and physicians to greatly reduce the number children born with birth defects, despite their genetic makeup.
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