Birth Defects

What Are Birth Defects?

Birth defects are structural, functional, or metabolic abnormalities that are present at birth. They can affect the way a baby’s body looks, works, or both. Birth defects may range from mild to severe, and while some can be corrected or managed with treatment, others may cause long-term disability or health issues.

Many birth defects are detected during pregnancy, at birth, or shortly after, and with early diagnosis and care, many children with birth defects can lead healthy, productive lives.

Types of Birth Defects

Birth defects are broadly classified into:

Structural Birth Defects

These involve physical abnormalities of body parts.

Examples:

• Congenital heart defects (e.g., septal defects, valve malformations)
• Cleft lip and/or palate
• Spina bifida (incomplete closure of the spinal cord)
• Clubfoot
• Gastroschisis (intestines outside the body)
• Microcephaly (abnormally small head)

Functional or Developmental Defects

These affect how a body system works or develops.

Examples:

• Intellectual disabilities
• Hearing loss or blindness
• Autism spectrum disorders
• Cerebral palsy (caused by brain injury before or during birth)
• Metabolic disorders (e.g., phenylketonuria, galactosemia)

Genetic and Chromosomal Disorders

Caused by abnormalities in genes or chromosomes.

Examples:

• Down Syndrome (Trisomy 21)
• Turner Syndrome
• Cystic Fibrosis
• Thalassemia
• Muscular dystrophy

Causes and Risk Factors

While many birth defects occur without a known cause, some are linked to genetic, environmental, or lifestyle factors.

Possible causes include:

• Genetic mutations or inherited conditions
• Chromosomal abnormalities
• Infections during pregnancy (e.g., rubella, Zika, CMV)
• Nutritional deficiencies (especially folic acid)
• Exposure to alcohol, tobacco, or drugs
• Certain medications taken during pregnancy
• Uncontrolled maternal illnesses (e.g., diabetes, epilepsy)
• Advanced maternal age
• Radiation or toxic chemical exposure

Diagnosis

During Pregnancy:

• Prenatal screening tests (blood tests, nuchal translucency)
• Ultrasound to detect physical abnormalities
• Non-invasive prenatal testing (NIPT) for chromosomal conditions
• Amniocentesis or chorionic villus sampling (CVS) for genetic analysis

After Birth:

• Physical exam
• Newborn screening (blood, hearing, and heart tests)
• Imaging (e.g., echocardiogram, X-ray, MRI)
• Genetic testing, if indicated

Treatment and Management

Treatment depends on the type and severity of the defect:

Surgical Correction:

• For defects like cleft lip/palate, heart defects, clubfoot, or neural tube defects.

Medications:

• For conditions like metabolic disorders or seizures.

Therapies:

• Speech, occupational, or physical therapy for developmental support.

Assistive Devices:

• Hearing aids, braces, feeding tubes, or wheelchairs.

Specialized Care:

• Involvement of multidisciplinary teams including pediatricians, surgeons, geneticists, and therapists.

Psychosocial and Educational Support:

• Counseling for families and early childhood intervention programs.

Prevention

While not all birth defects can be prevented, certain steps can reduce the risk:

• Take folic acid (400–800 mcg daily) before and during early pregnancy
• Attend regular prenatal checkups
• Manage chronic health conditions (e.g., diabetes, hypertension)
• Avoid alcohol, tobacco, and recreational drugs
• Review medications with a doctor before and during pregnancy
• Stay updated on vaccinations (e.g., rubella, hepatitis)
• Practice good hygiene to avoid infections
• Maintain a healthy diet and weight before and during pregnancy

Why Choose Aster Hospitals for Birth Defect Screening and Care?

Aster Hospitals provides comprehensive and compassionate care for children with birth defects, offering expert diagnosis, treatment, and long-term support. Our advanced fetal medicine and prenatal diagnostic services enable early detection, while our skilled team of neonatologists and pediatric specialists ensures seamless care from birth onward. We offer surgical and postnatal management of congenital abnormalities, supported by state-of-the-art NICU facilities for premature or high-risk newborns. Families benefit from genetic counseling, emotional support, and developmental screening and therapy services tailored to each child’s needs. At Aster, our multidisciplinary approach is dedicated to helping every child reach their fullest potential with early, expert, and personalized care.