A congenital anomaly is a structural or functional issue present at birth, also known as a birth defect or congenital malformation. These anomalies develop during the time a baby is in the womb and can be identified before birth, at birth, or sometimes later in infancy. Examples include heart defects, spina bifida, and Down syndrome, and they can range from mild to severe, sometimes requiring surgical or non-surgical treatment.
What they are
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Structural or functional:
Congenital anomalies can be problems with the physical structure of the body (like a cleft lip) or how the body works (like certain metabolic disorders).
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Present from birth:
The term “congenital” means “present at birth”. These conditions arise from issues that occur during fetal development.
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Identified at different times:
Anomalies can be detected prenatally, at birth, or later in life, such as a hearing defect noticed in infancy.
Examples
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Heart defects: Problems with the structure of the heart that are present from birth.
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Neural tube defects: Conditions like spina bifida, which affects the development of the brain and spinal cord.
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Cleft lip and palate: An incomplete formation of the upper lip or roof of the mouth.
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Down syndrome: A chromosomal condition that can cause lifelong health and developmental issues.
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Blood disorders: Conditions like sickle-cell disease or thalassemia, which affect red blood cells.
Impact and management
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Varying severity:
Some anomalies have minimal impact, while others can cause lifelong physical or developmental challenges.
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Treatment options:
Depending on the type and severity, they can be treated with surgery, medication, or other therapies.
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Diagnosis:
Diagnosis can involve prenatal screening, diagnostic tests like ultrasound or amniocentesis, or testing after birth.
MBH/PS