A pivotal moment in the parenting journey is the arrival of your child. However, the challenges posed by birth defects and complications can significantly impact many families. Therefore, it is important for parents to understand the different types of birth defects and preventive measures. So, with these challenges present, how can parents ensure the healthy arrival of their little one?
What are birth defects?
A birth defect refers to any malformations or abnormalities that occur during pregnancy. In most cases, birth defects are detected during pregnancy, at the time of birth, or during the early childhood phase. Birth defects can either be structural (affect the physical structure or form of a body part or organ) or functional (affect the metabolic functions of a body system, organ, or tissue).
What are the causes and risk factors for birth defects?
Genetic factors
Certain genetic conditions can cause birth defects. These conditions may affect:
- Specific parts of genes. Small changes in the DNA (microdeletions or microduplications) can affect small segments of genetic material. This can result in intellectual disability, autism spectrum disorders, dysmorphic features, and multiple congenital anomalies.
- Entire chromosomes. Some genetic conditions cause changes to entire chromosomes, this can result in conditions like Down syndrome – which involves having an extra copy of an entire chromosome.
- Single gene disorders. Caused by variations (or mutations) in the DNA sequence of a specific gene. The DNA changes affect the product that the gene codes for – usually a protein – causing it to be altered or missing. Example of single-gene disorders include Cystic fibrosis, hemochromatosis, Tay-Sachs, and sickle cell anaemia.
Personal factors
- Having certain medical conditions. Some medical conditions, such as being obese or having uncontrolled diabetes (before and during pregnancy) can increase the risk of birth defects.
- Pregnancy during old age. Pregnancy at an older age increases the risk of birth defects. This is because the risk of chromosomal abnormalities increases with age.
- Family history of birth defects. If someone in your family has a birth defect, this can increase the risk of your child having a birth defect
Environmental factors
- Maternal infections,g. syphilis, rubella, Zika, cytomegalovirus, etc.
- Radiation exposure
- Exposure to toxic pollutants,g. mercury, lead, etc.
- Exposure to certain drugs/substances,g. recreation drugs, isotretinoin (a drug used to treat severe acne), certain blood pressure medications, alcohol, tobacco, etc.
Examples of birth defects and their causes
| Birth Defect | Type | Description | Common Cause |
| Cleft Lip and/or Palate | Structural | Malformations of the lip or mouth during foetal development | Unknown (influenced by genetic and environmental factors) |
| Neural Tube Defects | Structural | A group of conditions that describe a malformation of the neural tube during foetal development | Maternal nutrition
(deficiency of folic acid) |
| Phenylketonuria | Functional | A metabolic disorder that prevents the breakdown of a certain amino acid, causing it to build up in the body | Genetic |
| Muscular Dystrophy | Functional | A group of degenerative conditions that cause muscle weakness and loss of muscle mass over time | Genetic |
How to prevent birth defects/complications?
- Regular and early prenatal and antenatal care. Ensure that you attend prenatal check-ups. This can include getting antenatal tests throughout your pregnancy journey (during different trimesters) in order to monitor and check on the health of your little one to see if he/she is developing healthily. Such tests may include screening tests (evaluate the risk of certain birth defects) or diagnostic tests (confirm the presence of specific birth defects).
- Control chronic conditions. Take the right steps to monitor and manage any chronic condition (e.g. diabetes, hypertension, etc.) that you have, as it may be a risk factor to certain birth defects.
- Achieve and maintain a healthy body weight. It is also important to achieve and maintain a healthy weight during pregnancy, especially in those who are obese, as this may also increase the risk of birth defects.
- Ensure sufficient nutrition. Eat a healthy diet that includes a wide variety of whole foods (e.g. fruits, vegetables, etc.). Ensure an adequate intake of vitamin and minerals to prevent certain birth defects. For example, taking folic acid supplements (4-5 mg daily) is vital to prevent neural tube defects.
- Get vaccinated. Certain maternal infections may cause birth defects but some of them can be prevented with vaccinations. For example, the rubella vaccine can help prevent rubella virus infections.
- Avoid harmful substances. Avoid the consumption of, or exposure to, harmful substances like alcohol, tobacco, and environmental pollutants (lead, mercury, etc.). Speak with your doctor to learn more about the medications to avoid during pregnancy.
- Explore counselling and testing options. If you have a family history of birth defects, speak with your doctor to learn more about genetic counselling and various testing options available.
It is important for parents to understand the risk of birth defects. By practicing early preventive measures, parents can ensure a healthy pregnancy and arrival of their little one. It is also crucial for parents to speak with a healthcare professional for more information on birth defects.
