Congenital anomaly, also known as birth defect, refers to any medical condition present from birth and the term congenital indicates that the condition was acquired in the womb. These conditions can vary in severity, affecting organs or individual parts of the body, as well as development, physical function, and sensory perception.
Most congenital anomalies have no obvious cause and some are genetic, others may be linked to the mother’s health during pregnancy. Environmental factors may contribute to the occurrence of these anomalies.
These are the types of birth defects everyone should know about
In an interview with HT Lifestyle, Dr. Tushar Parikh, senior consultant pediatrician and neonatologist, Motherhood Hospitals, Pune, explained, “Congenital anomalies can manifest as structural or developmental issues. Structural anomalies relate to physical body parts, while developmental anomalies affect physical functions, learning abilities, or sensory perception. Some congenital anomalies exhibit both structural and developmental effects, such as fragile X syndrome, spina bifida, and Down syndrome.
He elaborated, “Common structural congenital anomalies include heart defects, spina bifida, cleft lip or palate and clubfoot. Among these, heart defects are the most prevalent congenital anomalies. While in many cases there is no obvious cause, factors such as maternal diabetes or smoking during pregnancy can increase the risk. Heart defects occur when a part of the heart fails to form properly in the uterus, potentially leading to impaired blood circulation throughout the body. Different types of heart defects exist depending on the area of ​​the heart affected. For example, ventricular septal defect is the most common type in which there is a hole in the wall between the two lower heart chambers. In severe cases, babies with heart defects often require surgical intervention soon after birth.
Dr. Tushar Parikh reveals, “Cleft lip or palate occurs when the tissues that form the roof of the mouth or lips do not fuse together properly, causing potential problems with speaking, hearing, and eating. Surgery is often necessary for babies with this condition. Neural tube defects are abnormalities that affect the development of the brain and spinal cord during the early stages of pregnancy. Children with developmental defects such as Down syndrome are born with an extra chromosome, which affects both brain and body development. Visual impairment due to irregular eye shape or improper coordination between the brain and eyes affects vision.
She added, “Hearing loss occurs when the ear does not function properly, and can be identified through a hearing test before the baby is 1 month old. Cerebral palsy is a prevalent childhood motor disability that affects balance, movement, and posture due to damage to the developing brain. Muscular dystrophy is a condition that causes muscles to weaken over time and appears in different types depending on the muscle group affected. Some genetic disorders can affect development. For example, Fragile X syndrome affects normal brain development as well as learning and behavior.
treatment:
Dr Tushar Parikh explains, “In many cases, severe structural abnormalities require surgery soon after the baby is born. Prenatal testing can often identify such abnormalities before birth, helping healthcare providers, parents, and caregivers make necessary preparations. Congenital anomalies can result in lifelong disability, requiring continued treatment and support for the individual to live as full a life as possible.