What are Congenital Disorders?
Congenital disorders, also known as congenital anomalies or birth defects, are structural or functional anomalies that occur during intrauterine life. These disorders can be identified prenatally, at birth, or later in life. Congenital disorders can be caused by genetic factors, environmental exposures, or a complex interplay of both.
Types of Congenital Disorders
Congenital disorders can be broadly categorized into structural and functional disorders: Structural Anomalies: These involve defects in body parts, such as cleft lip and palate, congenital heart defects, and neural tube defects like spina bifida.
Functional Disorders: These include metabolic disorders, sensory deficits, and intellectual disabilities. Examples include phenylketonuria (PKU), congenital hypothyroidism, and congenital hearing loss.
Causes and Risk Factors
Congenital disorders can result from a variety of factors: Genetic Factors: These include chromosomal abnormalities like Down syndrome, single-gene mutations, and multifactorial inheritance.
Environmental Exposures: Maternal exposure to certain drugs, alcohol, infections (like rubella), or radiation can lead to congenital anomalies.
Nutritional Deficiencies: Lack of essential nutrients such as folic acid during pregnancy can increase the risk of neural tube defects.
Diagnosis
Diagnosis of congenital disorders often involves a combination of prenatal and postnatal techniques: Prenatal Screening: Ultrasound, amniocentesis, and chorionic villus sampling (CVS) can help identify some congenital anomalies before birth.
