Scientists Make the World’s First Discovery on the Cause of Many Types of Birth Defects


For the first time in world history, scientists believe they have discovered a cause of many types of birth defects.  This recent groundbreaking discovery holds the key to understanding why many babies are born with defects of the heart, vertebrae, and kidney, among other congenital abnormalities.

New Research on the Cause of Birth Defects

A team of scientists at the Victor Chang Institute conducted research under the leadership of world-renowned professor Sally Dunwoodie.  The group of experts analyzed the effects of short-term oxygen deficiency on heart development in an embryo.

For the first time, the scientists were able to show that reduced oxygen levels damaged the heart while it develops.  Most significantly, the scientists worked out exactly how low oxygen was damaging the developing heart.

Professor Dunwoodie explains.

“We obviously know that smoking is terrible for an unborn baby’s health. But oxygen deficiency in an embryo can be caused by many things, for example prescription medications, high blood pressure, high altitude, a tangled umbilical cord, as well as carbon monoxide.”

World’s First Discovery

Childhood heart disease is the most common form of birth defect in the world.  It affects 1 in 100 babies.  However, even though birth defects are so common throughout the world, researchers and scientists have struggled in trying to understand the genetic and environmental causes of this serious malady.

Nevertheless, this group of scientists initiated a new study and attempted to find the cause of congenital heart disease (CHD).  This landmark discovery came when the team of scientists used a mouse model.  For eight hours, they lowered oxygen levels inside a chamber from the normal level of 21 percent to as low as 5.5 percent.

Professor Dunwoodie clarifies the groundbreaking discovery process.

“We discovered that reduced oxygen triggered a stress response in the embryonic cells. The cells try to relieve the stress by stopping protein production. Suddenly those proteins aren’t available to make the heart at a critical time and the heart couldn’t develop properly.”

It’s important to note, oxygen deficiency is not the only trigger of this cellular stress. There are a number of other factors, which can set it off — including pollution, poor nutrition, high blood glucose, increased temperature, or viral infections.

Professor Dunwoodie elaborates.

“This cellular stress response could be the key to a variety of birth defects, not just heart defects. Now, we strongly suspect it’s an underlying mechanism for many different types of birth defects — including those of the vertebrae, kidney and others.  Surprisingly this cellular stress response has been used for hundreds of millions of years and it is only now that we have discovered that it can cause organs, such as the heart, not to form properly.”


According to the U.S. Centers for Disease Control and Prevention (CDC), birth defects are common and critical conditions that affect one in every 33 babies born in the U.S. each year.

Every four ½ minutes, a baby is born with a birth defect in the U.S.  And each year, nearly 120,000 babies are affected by birth defects.

Unfortunately, not all birth defects are preventable.  However, the CDC recommends there are steps a woman can take before and during pregnancy to increase her chance of having a healthy baby.

Here are the CDC’s recommended prevention steps

  • Be sure to see your healthcare provider regularly and start prenatal care as soon as you think you might be pregnant.
  • Get 400 micrograms (mcg) of folic acid every day, starting at least one month before getting pregnant.
  • Do not smoke, drink alcohol, or use “street” drugs.
  • Talk to a healthcare provider about any medications you are taking or thinking about taking. This includes prescription and over-the-counter medications and dietary or herbal supplements.  Don’t stop or start taking any type of medication without first talking with a doctor.
  • Learn how to prevent infections during pregnancy.
  • If possible, be sure any medical conditions are under control, before becoming pregnant. Some conditions that increase the risk for birth defects include diabetes and obesity.

Living with a Birth Defect

Babies who have birth defects often need special care and interventions to survive and develop.  State birth defects tracking programs provide one way to identify and refer children for the type of services they may require. Early intervention is very important when it comes to improving outcomes for these babies.

If your child has a birth defect, you should ask his or her doctor about local resources and treatment. Geneticists, genetic counselors, and other specialists are another resource.

Finding Support

Having a child with a birth defect can affect the entire family.  For some people, it’s helpful to talk with families or other people who share the same type of birth defect as you or your family member.

Other people might have learned how to address some of the same questions and concerns you may have.  Additionally, most of the time, they can give you advice about good resources and share what is working best for them.

Talking with other people may also provide hope and emotional support.  There are a variety of ways to connect with other people.  One way to connect with a person is by telephone.  You may also find support on reliable websites and social media groups on the Internet.

But it’s important to note that the choices of one family might not be the best for another family.  So it’s vital to understand and consider all options and discuss them with a health care provider.

This recent study titled, “Gestational stress induces the unfolded protein response, resulting in heart defects,” is published in the journal Development.

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George Zapo, CPH
George Zapo, CPH is certified in Public Health Promotion & Education. George focuses on writing informative articles promoting healthy behavior and lifestyles. Read more of George's articles at his website: