6 simple questions to rule out the most common birth defect

Congenital heart defect (CHD) is the most common type of birth defect and the leading cause of infant deaths in the developed world. By Liza Welsh


Pregnancy can evoke so many emotions within people. Depending on whether you have been exposed to families affected by disabilities, birth defects, genetic disorders, birth or pregnancy complications, you may experience a degree of anxiety about the health of your baby. In most cases, this anxiety is unfounded, as the majority of babies are born healthy.

There is, however, a percentage of children who are not born healthy and strong. Although the topic of birth defects is not warm and fuzzy or as exciting as choosing baby names, it is a conversation that every expectant parent should be guided through on their pregnancy journey.

What is a birth defect?

The Merriam Webster Dictionary defines a birth defect as follows, “A physical or biochemical defect (as cleft palate, phenylketonuria or Down’s syndrome) that is present at birth and may be inherited or environmentally induced.” In short, this means that a part of a child’s body does not have a normal structure and/or doesn’t function normally at birth.

What is the most common birth defect?

While birth defects such as Down’s syndrome are more commonly known and tested for, the most prevalent birth defect is congenital heart defect (CHD). This is a condition where a baby’s heart is either deformed and/or it does not function normally. One in 100 children is born with a heart defect worldwide, while the World Health Organization estimates the prevalence of Down’s syndrome to be one in 1 000 live births.

ALSO SEE: Prenatal screening tests for Down’s syndrome 

CHD is a serious condition because it affects the engine of our bodies. Our hearts work day and night to pump oxygen and nutrient-rich blood to our cells, and to drain oxygen-deficient blood back to our lungs again. A heart that doesn’t function properly may not cause a baby to look different, like in the case of other disabilities, but it can be life threatening.

Why is this important?

While a baby with a heart defect is inside their mom’s womb, he is perfectly safe. He receives his nutrients and oxygen from his mom’s placenta through the umbilical cord. As soon as the baby needs to rely on his own defective heart to circulate blood, the danger starts. A child born with a heart defect needs immediate medical attention to determine the course of action and intervention to treat the CHD.

Early diagnosis is key for parents and doctors to make life-saving decisions. The diagnosis of CHD while the baby is in the womb is the best-case scenario, as there’s time to examine and understand the heart defect, and there’s a larger window of opportunity to get medical interventions in place, thus increasing the baby’s chances of survival.

When and how can CHD be picked up during pregnancy?

CHD can be picked up by ultrasound scans, where your healthcare provider is able to see the structure of your baby’s heart. The ideal time to have your baby’s heart properly checked is at the 20-week scan, and again at the 37-week scan.

In the event that your healthcare provider picks up a possible problem with your baby’s heart structure, she will refer the parents to a foetal specialist, who will do further scans and tests. In the event that a heart defect is diagnosed, the foetal specialist will refer the parents to specialists in the field of CHD and a care team will be assembled to make sure that your baby receives the best treatment possible.

You need to initiate the conversation with your healthcare provider.

In 90% of cases, a CHD is missed during ultrasound scans. There is currently no research available to indicate why this is, but there is something that you as a parent can do. You should initiate the conversation about CHD at your next ultrasound appointment.

You can do this by asking these six questions (formulated by the Boston Children’s Hospital in the US):

  1. Do you see four chambers in the baby’s heart?
  2. Are there two upper chambers (left and right atria), each with a valve controlling blood flow out of them?
  3. Are there two lower chambers (left and right ventricles), each with a valve controlling blood flow out of them?
  4. Do the two vessels leaving the heart (aorta and pulmonary artery) cross each other as they exit?
  5. Is the wall between the two lower chambers intact, without any holes?
  6. Is everything else in the heart normal?

If your doctor can’t answer even one of these questions and show you that everything is in order, ask for a referral to a foetal specialist for a second opinion. Remember that it is better to check your baby’s heart as early as possible, so that in the unfortunate event that there is a problem, you and your baby’s care team has as much time as possible to prepare.

If a possible CHD is ruled out by these six questions, you should still ask for a pulse oximetry screening once your baby is born. A pulse oximetry screening is a non-invasive screening that can pick up low oxygen levels in your baby’s blood, and thus identifies a possible presence of a CHD.

It is also important to report any of the other signs of CHD to your baby’s doctor. These signs can be remembered easily using the acronym HEART:

  • H (heart rate): Anything outside of the normal 60-100 beats per minute.
  • E (lack of energy): A sluggish, tired baby who tires easily during feeds.
  • A (appearance): Any blue or dusky skin, especially around the nose and mouth and hands and feet.
  • R (respiratory difficulties): If your baby has trouble breathing and often has a sweaty forehead.
  • T (temperature): Hands and feet that are continuously cold to touch.

For more information about CHD in South Africa, visit www.heartkids.co.za or email liza@heartkids.co.za. Families affected by CHD can join the Heart Kids support network by sending their name and the city in which they live to 074 120 0279.

Please note: This article is not a substitute for medical advice. Talk to your doctor about any concerns and questions you have.

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