Birth defects: Abnormalities that can happen in pregnancy

Birth defects are abnormalities that can happen in pregnancy and lead to a child being born with differences in the way their body develops.

They can be caused by genetic changes or environmental factors. The most common examples are congenital heart conditions, congenital club foot, a cleft lip and Down Syndrome.

You can’t prevent most birth defects but you can reduce them by maintaining good health. There are abnormal growth changes in your body that happen during foetal development. They can affect any part of your baby’s body.

A doctor can detect birth defects during pregnancy, after your baby is born or later during your child’s life.

Most doctors can identify a birth defect in your child’s first year but not all of them are visible.

Some birth defects can be life-threatening while some only change your child’s appearance. Others can affect the way they think, move and function.

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Common birth defects

• A cleft lip and/or cleft palate
• Bone growth abnormalities that cause short stature, missing limbs or scoliosis
• Congenital heart conditions
• Chromosome abnormalities (Down Syndrome)
• Club foot
• Foetal alcohol syndrome
• Sickle cell anaemia.

Symptoms and causes

Symptoms of birth defects range from mild to severe. They can affect almost any part of the body like your bones and organs.

It is important to attend your antenatal screenings because this is when defects can be detected.

The doctor will use screening tests to look for signs of birth defects. These can include:

• Protein levels from a blood test that are higher or lower than expected
• Extra fluid behind a foetus’ neck during an ultrasound
• Structural abnormalities of a foetus’ internal organs, like the heart, during a foetal echocardiogram.

Some birth defects won’t be present until a child is born or be detected until shortly after birth. Common signs and symptoms of birth defects include:  

• An abnormal rhythm of the heart
• Difficulty breathing on their own
• Not responding to their name being called or to loud sounds
• Their eyes won’t follow you or an object in front of them
• Difficulty in feeding
• Head, face, eyes, ears or mouth have unique characteristics
• Lack of developmental milestones for their age
• Irritability.

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Causes of birth defects

These include:

• Genetic changes
• Side effect of a medication
• Substance (alcohol) or chemical exposure
• Pregnancy complications.

These causes occur during foetal development. Many are out of your control and there’s nothing you can do to prevent them.

When a baby is growing inside your uterus, it goes through two major stages of development after the pregnancy starts.

The embryo stage occurs during the first 10 weeks after conception. Most of the baby’s major body systems and organs form at this time. The second, or foetal stage, is the remainder of the pregnancy.

This foetal period is a time of organ growth and the growth of the baby. A developing baby is most vulnerable to birth defects during the embryo stage when organs are developing. For example, alcohol or chemical exposure can cause the greatest damage to a foetus between two and 10 weeks after conception.

However, about 20% of birth defects occur as a result of genetic factors.

Some people may have either too many or too few chromosomes causing their cells to receive a scrambled message on how to develop and function.

Chromosome changes occur when there are:

• Too many chromosomes: Down Syndrome is an example of a condition caused by too many chromosomes
• Not enough chromosomes: Turner syndrome is an example of a chromosomal condition where a person is born without part of or missing an entire X sex chromosome
• Deleted chromosomes: A genetic change can affect the number of chromosomes in your DNA
• Relocated chromosomes: Chromosomes can move in your DNA to a numbered seat other than their own. This is known as translocation.

Some birth defects are inherited. This means you can develop a condition that runs in your biological family.

Other conditions occur randomly (sporadically) and you won’t have a history of the condition in your family.

Medications and birth defects

Some medications can cause birth defects. Common medications that can lead to birth defects include:

• Isotretinoin (Accutane or Roaccutane)
• Anti-epileptic medications (valproic acid)
• Lithium
• Warfarin.

If you’re pregnant or plan on becoming pregnant, talk to a health care provider about the medications and supplements you take and the side effects of medications prescribed for you.

Your practitioner will let you know if it’s safe to continue taking certain medications. Don’t stop taking the medication until it is approved.

Substance or chemical exposure and birth defects

Substances and chemicals in your environment can affect foetal development and lead to birth defects.

Always be aware of the chemicals you are exposed to, especially in the workplace. Common substances or chemicals that can lead to birth defects include:

• Alcohol
• Addictive substances like caffeine, prescription drugs and non-medical drugs
• Pesticides or herbicides
• Pollution.

Birth defects are common in certain areas of the world where people use dangerous pesticides and herbicides including farms, paint factories and in mining environments.

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