Understanding Birth Defects: Causes and Prevention

When a parent is expecting, there is one scenario that is a major point of concern – birth defects. This concern isn’t completely unwarranted either. According to the Centers for Disease Control and Prevention (CDC), close to 1 in 33 babies in the United States is born with some sort of defect ranging from minor to severe. These issues can arise from various pregnancy complications, like infections and gestational diabetes.

These issues can be purely cosmetic, or they can be completely debilitating or even life threatening. Keep reading to see a thorough list of defects in newborns and their causes.

Common Birth Defects

Scientists and researchers have identified thousands of birth defects, some mild and some that are very serious if not treated right away. The Centers for Disease Control and Prevention notes that birth defects are the leading cause of death during the first year of life.

Below is a list of common issues that occur at birth.

Structural Defects

• Cleft lip or palate is when there is a split in the upper lip or the roof of the mouth.
• Heart defects is a malformation of the heart that occurs during fetal development, resulting in improper heart function.
• Spina bifida occurs when the neural tube does not close during development. This tube is responsible for the formation of the baby’s spinal cord. When this occurs, it results in an incomplete development of the spinal cord and its protective covering.
• Clubfoot or when baby’s foot is turned inward, making it difficult to walk properly.

Functional Defects

• Down’s syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21. This can result physical and cognitive disabilities. This condition is also known as Trisomy 21.
• Cerebral palsy is a neurological disorder that affects a person’s body movement, muscle coordination, and posture. This is caused by abnormal brain development or damage to the developing brain.
• Cystic fibrosis is a genetic disorder that primarily affects the lungs and digestive system. This leads to the production of thick mucus that can clog the airways.
• Sensory problems like hearing loss, blindness or deafness.
• Sickle cell disease is an inherited blood disorder characterized by the presence of abnormal hemoglobin. Red blood cells to become rigid and form a crescent shape, leading to decreased oxygen supply to organs and tissues.
• Fetal alcohol syndrome is a group of physical and cognitive abnormalities that occur in babies whose mothers consumed alcohol during pregnancy. This can result in growth deficiencies, facial abnormalities, intellectual disabilities, and behavioral problems.
• Metabolic disorders are issues with chemical reactions in the body like hypothyroidism.
• Degenerative disorders are problems that might not show symptoms at birth but eventually get worse over time. Examples include muscular dystrophy.

What Causes Birth Defects?

Genetic Factors

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Many birth defects are caused by genetic factors. This means they are inherited from one or both parents who may be a carrier for the disorder. These defects can be caused by a single gene mutation or a combination of factors.

For example, Down syndrome is caused by an extra copy of chromosome 21, while cystic fibrosis is caused by changes in the CFTR gene.

Environmental Factors

Environmental factors that a role in causing birth defects can include exposure to certain substances or toxins during pregnancy. Obvious examples include:

• Drinking alcohol during pregnancy can lead to a variety of problems including fetal alcohol syndrome, which can cause developmental issues, physical disabilities, and behavioral problems. About 1 in 1500 babies is born with fetal alcohol syndrome each year.
• Smoking cigarettes can lead lung problems, specifically asthma. There is also strong evidence that it can affect the heart and digestive system.
• Using drugs while pregnant can increase the risk IDDs and behavioral problems, as well as pregnancy loss and still-birth.
• Medication should be used with caution, as some can cause problems if taken during pregnancy. And example of this is thalidomide, a medication prescribed to treat certain cancers.

For example, Kingston Clan birth defects have been linked to the use of clomid, a fertility drug, during pregnancy. This drug has been shown to increase the risk of birth defects, particularly heart defects, in babies. According to the New England Journal of Medicine, clomid birth defects data is fairly weak and may be attributed to other factors.

Health-Related Causes

• Infections during pregnancy can cause various issues in a developing fetus. Cytomegalovirus, is a common virus that can cause issues in babies but show no symptoms in healthy adults.
• Obesity or uncontrolled diabetes can put a newborn at risk for heart malformations and neural tube defects. Other research suggests this also can put children at risk for developmental delays.

Unknown Causes

In some cases, the cause of a birth defect may be unknown. This can be frustrating for parents, but unfortunately not all birth defects have a known cause.

How Can Birth Defects Be Prevented?

Preconception Care

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The best way to help prevent birth defects is to take care of your own health before becoming pregnant. Also known as preconception care, it involves making healthy lifestyle choices, reducing unhealthy habits, and taking precautions.

Some steps you can take include:

• Taking a daily prenatal vitamin with folic acid
• Avoiding alcohol, tobacco, and drugs
• Managing any chronic health conditions
• Getting vaccinated
• Maintaining a healthy weight

Prenatal Care

Once you become pregnant, remember to attend regular prenatal appointments. These appointments allow your doctor to keep tabs on your baby’s growth and development and catch any potential issues. For example, your doctor may recommend certain tests, such as genetic testing or ultrasounds, to check for any potential birth defects.

Avoiding Harmful Substances

As mentioned earlier, exposure to certain substances during pregnancy can increase the risk of birth defects. Always avoid these substances to protect your baby’s health.

Some substances to avoid include:

• Alcohol
• Tobacco
• Recreational drugs
• Certain medications (always consult with your healthcare provider before taking any medication during pregnancy)

Managing Chronic Health Conditions

If you have a chronic health condition, work closely with your healthcare provider to manage it during pregnancy. Some medications or treatment plans may need to be changed to ensure the safety of your baby.

Some chronic health conditions that may increase the risk of birth defects include:

• Diabetes which is occurs when the body does not produce enough insulin or cannot use it efficiently
• Epilepsy or a brain disorder that causes recurring seizures, either from a genetic disorder or brain injury
• High blood pressure or when the force against artery walls is too high
• Obesity or being overweight
• Other Chronic Conditions

Genetic Counseling

People who have a history of birth defects in the family may consider genetic counseling. Even those who are generally concerned about the risk of having a baby with a birth defect may consider this. Genetic counselors can assess your risk and provide information and resources to help you make informed decisions about your pregnancy.

Other Testing

Sometimes a doctor may recommend non-routine testing based on a number of factors. This testing includes:

• Noninvasive prenatal testing (NIPT) is recommended by a doctor when routine testing shows that there may be a chromosomal disorder such as Patau syndrome, and Edwards syndrome. In this test, the planetal DNA in the mother’s blood is tested. This is typically only recommended for high-risk pregnancies.
• Amniocentesis can determine if the fetus has a genetic disorder. The doctor will use a long needle to take fluid from the womb to be tested for any problems. This test presents a risk of pregnancy loss, although it is small.
• Chorionic Villus Sampling (CVS) is a test in which a doctor takes cells from the womb for testing. This test can determine if there is a genetic disorder in the child. This test can present a slightly higher risk of miscarriage.

Conclusion

When looking forward to when your baby is born, birth defects are a scary possibility for expecting parents, but there are things you can do to prevent them. By taking care of your health before and during pregnancy, avoiding harmful substances, and seeking genetic counseling if needed, you can greatly increase the chances of having a healthy baby. Remember to always consult with your healthcare provider for personalized recommendations and guidance base on your specific needs and risk factors.