Nature and Nurture: World‐first Discovery Sheds New Light On Congenital Birth Defects

http://www.sciencedaily.com/releases/2012/04/120405131220.htm

ScienceDaily (Apr. 5, 2012) — Scientists have made a landmark discovery that could help women minimize or even avoid the risk of having a baby born with congenital birth defects. The study is published April 5 in the international journal Cell.

The scientists, from universities in Australia, Japan, Canada and the United States, including Arizona State University, show for the first time how "nature" and "nurture" interact to increase the severity and likelihood of developing birth defects, including abnormalities in the heart, kidneys, brain, limbs and cranio‐facial regions (cleft palate).

They show how hypoxia, or a period of low oxygen during pregnancy, combined with a genetic risk factor of having only one functioning copy of a gene, dramatically increases the chances of a baby being born with congenital scoliosis, a malformation of the spine that affects around 1 in 1,000.

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Hypoxia during pregnancy can be caused by a range of circumstances including poorly controlled sugar levels in diabetics, smoking, high altitude, prescription and recreational drug‐use, anemia or a poorly functioning placenta.

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Kusumi points to a recent genetic study of over 50,000 identical twins that emphasizes that the risk of developing disease arises from the environment acting together with a person's unique genome.

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"It may not necessarily be a lack of oxygen that allows the underlying gene defect to be revealed, it could be a lot of other environmental factors, such as anemia or lack of folate. But the message is, if you have family history of disease or you know you have a defective gene, mums need to be extra careful during pregnancy," adds Graham.

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