Written By: IJCP Editorial Team

Published On: 10 Feb, 2023 5:33 PM | Updated On: 15 May, 2024 5:14 PM

Congenital Disorders & Their Prevention

A congenital disorder, also known as a birth defect, is a condition present at birth and affects a baby’s physical or mental development. These disorders can affect any body part, ranging from minor physical abnormalities to chronic psychological and neurological conditions resulting in lifetime disabilities. There are many different types of congenital disorders, but the most common ones are:

• Heart defects
• Down syndrome
• Spina bifida
• Cleft lip and palate
• Clubfoot
• Congenital deafness
• Congenital blindness

Some congenital disorders are hereditary, while others are caused by environmental factors such as maternal infections (such as rubella, cytomegalovirus, and toxoplasmosis), exposure to harmful substances (such as alcohol, drugs, and chemicals), or poor maternal nutrition during pregnancy. In addition, maternal age can also play a role in the development of congenital disorders, as the risk of certain conditions increases for women over the age of 35. 

Types of congenital disorders

Congenital disorders can significantly impact a baby’s development and may require ongoing medical treatment and support. Depending upon the type of manifestation, congenital disabilities can be classified as:

1. Chromosomal Abnormalities: Chromosomal abnormalities occur when a person has an abnormal number of chromosomes or when the structure of the chromosomes is abnormal. The common types of chromosomal abnormalities include Down syndrome and Klinefelter syndrome. 

2. Congenital Heart Defects: Congenital heart defects are a group of conditions that affect the structure and function of the heart. These defects can be mild or severe, and they can affect both the heart and lungs. Ventricular septal defect and atrial septal defect are types of congenital heart defects.

3. Musculoskeletal Abnormalities: Musculoskeletal abnormalities refer to conditions that affect the muscles, bones, and other connective tissues. It includes spina bifida, clubfoot, and scoliosis. 

4. Neural Tube Defects: Neural tube defects such as anencephaly and spina bifida are associated with brain, spine, and spinal cord development and functioning. 

5. Genetic Disorders: Genetic disorders like cystic fibrosis and sickle cell disease are caused by changes in a person’s DNA. 

6. Metabolic Disorders: Metabolic disorders are caused by an abnormality in the body’s metabolism. It includes phenylketonuria and glycogen storage disease. 

7. Endocrine Disorders: Endocrine disorders are caused by an abnormality in the body’s endocrine (hormone) system and may include hypothyroidism and diabetes.

Diagnostic Tests to detect Congenital Disorders

There are various tests that expectant mothers can undergo to determine if their baby is at risk for congenital disorders. These tests include:

• Ultrasound - Ultrasound is a non-invasive investigation that uses high-frequency sound waves to produce images of the developing fetus. This test can be used to detect abnormalities in the fetus, such as heart defects, spina bifida, and cleft lip and palate.
• Amniocentesis - Amniocentesis is a more invasive test that involves retrieving a sample of amniotic fluid from the uterus to test for genetic abnormalities.
• Chorionic villus sampling (CVS) - Chorionic villus sampling (CVS) is another invasive test that involves removing a small tissue sample from the placenta to test for genetic conditions.
• Non-invasive prenatal testing (NIPT) - Non-invasive prenatal testing (NIPT) is a newer type of test that uses a blood sample from the expectant mother to test for chromosomal abnormalities in the fetus.

Preventive Measures to avert Congenital Disorders

Although you cannot prevent some congenital disorders, some steps may be taken to reduce the risk of developing these conditions. These include:

● Maintaining a healthy lifestyle before and during pregnancy

● Getting vaccinated against infectious diseases before pregnancy

● Avoiding alcohol and drugs during pregnancy

● Taking folic acid supplements before and during pregnancy

● Avoiding exposure to harmful substances such as chemicals and radiation

● Regular prenatal care to detect and treat any complications early

Maintaining a healthy lifestyle before and during pregnancy is essential for reducing the risk of congenital disorders. It includes eating a balanced diet, exercising regularly, and avoiding alcohol and drugs. Expectant mothers should also get vaccinated against infectious diseases, such as rubella and cytomegalovirus, before becoming pregnant, as these diseases can cause serious harm to the developing fetus. Taking folic acid supplements before and during pregnancy can also help reduce the risk of congenital disorders, as folic acid is essential for the proper development of the nervous system.

Avoiding exposure to harmful substances such as chemicals and radiation is vital for preventing congenital disorders. Expectant mothers should avoid exposure to lead, mercury, and other toxic substances, as these can cause harm to the developing fetus. Regular prenatal care is also crucial for preventing congenital disorders, as it allows for early detection and treatment of any complications arising during pregnancy.

The Bottom Line

Congenital disorders can have a significant impact on a baby’s development and can cause lifelong disabilities. While some congenital disorders cannot be prevented, there are steps that expectant mothers can take to reduce their risk. Regular prenatal care, a healthy lifestyle, and avoiding exposure to harmful substances are just a few ways that expectant mothers can reduce their risk of having a baby with a congenital disorder. If a congenital disease is detected during pregnancy, early treatment and management can help improve the health outcomes of the newborn. Expectant mothers should talk to their healthcare providers about their options for testing and prevention and work together to ensure the best outcome for their babies.