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An Overview of Different Causes and Types of Birth Defects

September 26, 2024

Birth defects, also known as congenital disabilities, are specific functional or structural abnormalities found in kids from birth. These types of birth defects often lead to some physical or mental disability in kids. Because of birth defects, their bodies develop differently than other babies. While some such defects can be managed with proper medical attention, others could be fatal.

Main Causes of Birth Defects

Not all birth defects are detected immediately after birth. Under expert supervision, most abnormalities are detected in the first year itself. Some may go unnoticed for more extended periods. The diagnosis plays a significant role in determining the impact of birth defects on the quality of life. Some children may specifically exhibit physical deformities; others may have cognitive skills affected. While some causes remain unknown, the primary factors contributing to birth defects are listed below:

● Deficiency of folic acid.

● Hereditary factors.

● Side effects of medications.

● Exposure to harmful radiation or chemicals.

● Unexpected complications in the pregnancy and delivery.

● Adverse incidents before delivery.

● Unknown factors, likely due to a combination of genetic and environmental factors.

Common Signs of Birth Defects During Pregnancy

● Higher protein levels from blood tests.

● Increased fluid accumulation behind the neck of the foetus.

● Abnormalities in internal organs will be detected in the foetal echocardiogram.

Common Types of Birth Defects

Body defects affect the body and mind at varying levels. You may need special tests to detect these defects, as they may go unnoticed during the early stages. The most common types of birth defects seen in children include:

Structural Birth Defects

Structural birth defects may cause abnormalities in the child's physical appearance, depending on the severity. These include congenital heart disorders, cleft lip and palate, neural tube defects like Spina Bifida, anencephaly, etc.

Functional Birth Defects

Functional birth defects can further be classified into metabolic defects like phenylketonuria (PKU), congenital hypothyroidism, sensory disorders that lead to vision impairment, congenital deafness, etc.

Developmental Birth Defect

Autism spectrum disorders, cerebral palsy, and other types of defects affecting developmental conditions affecting communication, behaviour, and movement or muscle tone fall into this category. Such defects are more challenging to detect in very young children. Only as they grow older will their parents realise that their developmental skills are not as advanced as those of other kids.

Birth Defects due to Infections

These birth defects occur as a result of an infection the mother contracts during her pregnancy. Such birth defects include congenital Rubella syndrome, cytomegalovirus infection, and others.

Symptoms of Birth Defects in Kids

Depending on the severity of the defect, the symptoms that kids exhibit may vary. Sometimes, the symptoms appear later in life and may go unnoticed without proper monitoring. Paediatric checkups and follow-ups should not be taken lightly, as they play a significant role in identifying the initial symptoms of any potential birth defects. While the symptoms appear differently for each child, they can commonly be categorised as follows:

● Physical abnormalities.

● Developmental delays.

● Difficulty in feeding.

● Display of abnormal behaviour.

● Recurrent health issues.

How to Avoid the Risk of Birth Defects?

While birth defects are not entirely in your control, you can certainly avoid the risk of your baby being born with a defect by taking good care of yourself during the pregnancy. Some best practices to adopt during pregnancy for a healthy baby are listed below:

● Regular checkups.

● Being present for all your ultrasound scans.

● Follow medical advice.

● Follow a healthy and nutritious diet.

● Get sound sleep.

● Take folic acid and other supplements as prescribed by your doctor.

● Gentle exercise and meditation.

● Lead a less stressful life.

● Inform your doctor of any discomfort or other unusual symptoms.

Management of Children with Birth Defects

Managing children with birth defects requires proper commitment and dedication. The journey can be challenging and filled with emotional, physical, and financial demands. The best methods to adopt are:

● Medical Management.

● Surgical Interventions.

● Therapies.

● Support Services.

● Follow-up Care.

It is never an easy task to raise children with birth defects. Constant monitoring is required to avoid complications. With proper medical guidance and strong family support, you can offer improved care and attention to your child, assisting them in living as normal a life as possible. Early diagnosis and timely medical intervention can significantly improve affected individuals' outcomes and quality of life.

Book an online appointment with Dr Meenakshi R Kamath for Pregnancy & Gynecology related issues.

Overcoming the Challenges of Birth Defects

Caring for a child with birth defects requires immense mental strength and patience. Accepting that your child may need special attention can be challenging, it takes time and support. Be kind and gentle with yourself; remember, you can best care for your child when you also care for your well-being.

Accept the help and guidance offered by family, friends, and healthcare professionals. Maintain a routine that helps your child feel included and supported within the family. Regular paediatric checkups and staying connected with support groups are essential. Most importantly, love your child wholeheartedly. Everything else will follow in due course.

Frequently Asked Questions:

1. What are the five types of birth defects?

The five types of birth defects are:

● Structural birth defects involve deformations of body parts. Examples include heart defects, cleft lip and palate, and spina bifida.

● Functional birth defects affect how a body part or system works. Examples include vision impairment and congenital deafness.

● Developmental birth defects include cognitive and behavioural issues that impact the child's development.

● Birth defects caused by infections can occur when a mother contracts an infection during pregnancy. Examples: congenital rubella syndrome, congenital cytomegalovirus infection

● Genetic birth defects occur due to inherited genetic abnormalities like Down syndrome, cystic fibrosis, etc.

2. What are the five most common disabilities from birth defects?

The five most common disabilities from birth defects include:

● Intellectual disabilities include genetic conditions like Down syndrome.

● Cerebral palsy and other disorders affecting movement and muscle tone.

● Congenital heart defects like ventricular septal defect.

● Neural tube defects like spina bifida.

● Hearing and vision impairments and other congenital conditions.

3. What is the most common birth defect?

Congenital heart defects are the most commonly seen birth defects among children. It affects 1 out of 100 newborns.

4. What are two of the four leading causes of birth defects?

Two of the four primary causes of birth defects are:

● Genetic Factors

● Environmental Factors

Nutritional deficiencies are also a significant cause of physical deformities.

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