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One strand of DNA has the incredible power to shape our bodies in amazing ways. But sometimes, things don’t go smoothly, which leads to congenital anomalies or birth defects.
Congenital Anomalies are structural and functional abnormalities that arise during a baby’s time in the womb. They’re also known as birth defects, congenital disorders, or congenital malformations.Â
These issues develop and can be detected before, at birth, or even later in life. It’s thought that around 6% of babies worldwide are born with a congenital disorder, leading to hundreds of thousands of deaths.Â
However, the actual number of cases might be higher as statistics often overlook terminated pregnancies and stillbirths. This article discusses the causes, how to lower the risk and available treatments.
Congenital anomalies can manifest as either structural or developmental. Structural abnormalities pertain to physical body parts, while developmental abnormalities impact bodily functions, learning abilities, or sensory perceptions.
Some congenital anomalies exhibit both structural and developmental implications. Examples of such conditions include spina bifida, fragile X syndrome, and Down syndrome.
Structural anomalies are abnormalities or differences in the structure of an organ, tissue, or body part. These anomalies can occur during foetal development and may affect various parts of the body, including the heart, brain, limbs, and internal organs.
Structural anomalies can range from minor variations that may not cause significant health issues to more severe conditions that require medical intervention.
The most prevalent congenital anomalies are heart defects. While many cases have no clear cause, certain factors like maternal diabetes or smoking during pregnancy may increase the risk.
When a baby’s heart doesn’t develop properly before birth, it can lead to heart defects. This can affect how well the heart pumps blood around the body. The most common heart defect is a ventricular septal defect when a hole in the wall separates the heart’s lower chambers. In some instances, this hole may close naturally over time.
Infants born with severe heart defects often require surgical intervention shortly after birth to address the issue.
Neural tube defects are structural abnormalities that affect the development of the brain and spinal cord in unborn babies. These defects occur during the early stages of pregnancy when the neural tube, which later forms the brain and spinal cord, fails to close properly.Â
There are different types of neural tube defects, including anencephaly, where parts of the brain and skull don’t develop; encephalocele, where the brain protrudes through an opening in the skull; and spina bifida, where the spine doesn’t fully form and close, affecting nerves and spinal cord.Â
While anencephaly and encephalocele are rare, spina bifida is more common. The severity of symptoms associated with spina bifida varies depending on which part of the spine is affected and can include paralysis, learning difficulties, and bladder and bowel problems. Taking folic acid during pregnancy is recommended as it can help reduce the risk of neural tube defects in infants.
In some cases, during foetal development, there are malformations in the development of the digestive system, particularly the gut and stomach. The muscles around the stomach might not form properly, leading to a hole near the belly button where intestines or organs may protrude.Â
In conditions like gastroschisis, the abdominal wall doesn’t fully close, allowing the bowel to protrude without a protective sac, while in omphalocele, a protective sac surrounds the organs. Surgery is often needed shortly after birth to address these issues.Â
Additionally, abnormalities in the diaphragm, the muscle that separates the chest and abdomen, can cause organs to move into the chest cavity, resulting in conditions like diaphragmatic hernia, which also require surgical intervention and respiratory support.
In some cases, a part of the limb fails to form during foetal development in the womb fully. This anomaly leads to a limb being smaller than usual or absent. For example, a baby might have a missing finger, a shorter arm, or a clubfoot. While some may experience minimal impact on their daily lives, others may face limitations in movement. Treatment options like physical therapy, splints, or prosthetics may help manage the condition.Â
When a baby develops before birth, sometimes the tissues of the upper lip or roof of the mouth don’t join together properly, causing a gap or split known as a cleft lip or palate. Some infants may have both, making feeding, speaking, and dental development more challenging. Treatment often involves surgery to close the gap, and sometimes, other specialists like speech therapists and orthodontists are involved to help with any related issues.
The most prevalent congenital anomalies are heart defects. While many cases have no clear cause, certain factors like maternal diabetes or smoking during pregnancy may increase the risk.
When a baby’s heart doesn’t develop properly before birth, it can lead to heart defects. This can affect how well the heart pumps blood around the body. The most common heart defect is a ventricular septal defect when a hole in the wall separates the heart’s lower chambers. In some instances, this hole may close naturally over time.
Infants born with severe heart defects often require surgical intervention shortly after birth to address the issue.
Neural tube defects are structural abnormalities that affect the development of the brain and spinal cord in unborn babies. These defects occur during the early stages of pregnancy when the neural tube, which later forms the brain and spinal cord, fails to close properly.Â
There are different types of neural tube defects, including anencephaly, where parts of the brain and skull don’t develop; encephalocele, where the brain protrudes through an opening in the skull; and spina bifida, where the spine doesn’t fully form and close, affecting nerves and spinal cord.Â
While anencephaly and encephalocele are rare, spina bifida is more common. The severity of symptoms associated with spina bifida varies depending on which part of the spine is affected and can include paralysis, learning difficulties, and bladder and bowel problems. Taking folic acid during pregnancy is recommended as it can help reduce the risk of neural tube defects in infants.
In some cases, during foetal development, there are malformations in the development of the digestive system, particularly the gut and stomach. The muscles around the stomach might not form properly, leading to a hole near the belly button where intestines or organs may protrude.Â
In conditions like gastroschisis, the abdominal wall doesn’t fully close, allowing the bowel to protrude without a protective sac, while in omphalocele, a protective sac surrounds the organs. Surgery is often needed shortly after birth to address these issues.Â
Additionally, abnormalities in the diaphragm, the muscle that separates the chest and abdomen, can cause organs to move into the chest cavity, resulting in conditions like diaphragmatic hernia, which also require surgical intervention and respiratory support.
In some cases, a part of the limb fails to form during foetal development in the womb fully. This anomaly leads to a limb being smaller than usual or absent. For example, a baby might have a missing finger, a shorter arm, or a clubfoot. While some may experience minimal impact on their daily lives, others may face limitations in movement. Treatment options like physical therapy, splints, or prosthetics may help manage the condition.Â
When a baby develops before birth, sometimes the tissues of the upper lip or roof of the mouth don’t join together properly, causing a gap or split known as a cleft lip or palate. Some infants may have both, making feeding, speaking, and dental development more challenging. Treatment often involves surgery to close the gap, and sometimes, other specialists like speech therapists and orthodontists are involved to help with any related issues.
The most common childhood motor disability is cerebral palsy. It impacts balance, movement, and posture, often arising from damage to the developing brain. This damage can occur before or during birth and affects the brain’s ability to control muscle movements and coordination. As a result, individuals with cerebral palsy may experience challenges with mobility and muscle control.
A person with Down syndrome is born with an extra chromosome, specifically chromosome 21. This additional genetic material affects brain and body development, leading to various physical and intellectual challenges. Children with Down syndrome may have characteristic physical features, such as almond-shaped eyes, a flattened facial profile, and a shorter stature.
A disorder that primarily affects the muscles, known as muscular dystrophy, causes them to weaken and degenerate over time. There are various types of muscular dystrophy, each characterised by the specific group of muscles they impact and the age of onset. Common types include Duchenne muscular dystrophy, which causes progressive muscle weakness starting in early childhood, and Becker muscular dystrophy, which has similar symptoms but progresses more slowly and with milder severity.
This affects a person’s ability to see clearly. These visual impairments can result from various factors, such as irregular eye shape or problems with the coordination between the eyes and the brain.
Development can be impacted by genetic disorders, with one of the most prevalent being fragile X syndrome. This condition disrupts normal brain development and can lead to challenges in learning and behaviour.
This occurs when the ear does not function properly. Infants typically undergo a hearing screening before they reach one month old to detect any issues early on. Hearing impairments can vary in severity, with some children having partial hearing abilities while others may be completely deaf. Genetic factors can play a role in the development of hearing impairments.
Specific Language Impairment (SLI) is a communication disorder that primarily affects a person’s ability to understand and use language effectively. Individuals with SLI may struggle with various aspects of language, including speaking, listening, reading, and writing. They may struggle to form sentences, find the right words, understand grammar rules, or follow conversations.
When a woman consumes alcohol during pregnancy, it can lead to a range of conditions known as Foetal Alcohol Spectrum Disorders (FASDs) in her baby. These disorders can affect the developing foetus, including impairments in learning, growth, and development.
The most common childhood motor disability is cerebral palsy. It impacts balance, movement, and posture, often arising from damage to the developing brain. This damage can occur before or during birth and affects the brain’s ability to control muscle movements and coordination. As a result, individuals with cerebral palsy may experience challenges with mobility and muscle control.
A person with Down syndrome is born with an extra chromosome, specifically chromosome 21. This additional genetic material affects brain and body development, leading to various physical and intellectual challenges. Children with Down syndrome may have characteristic physical features, such as almond-shaped eyes, a flattened facial profile, and a shorter stature.
A disorder that primarily affects the muscles, known as muscular dystrophy, causes them to weaken and degenerate over time. There are various types of muscular dystrophy, each characterised by the specific group of muscles they impact and the age of onset. Common types include Duchenne muscular dystrophy, which causes progressive muscle weakness starting in early childhood, and Becker muscular dystrophy, which has similar symptoms but progresses more slowly and with milder severity.
This affects a person’s ability to see clearly. These visual impairments can result from various factors, such as irregular eye shape or problems with the coordination between the eyes and the brain.
Development can be impacted by genetic disorders, with one of the most prevalent being fragile X syndrome. This condition disrupts normal brain development and can lead to challenges in learning and behaviour.
This occurs when the ear does not function properly. Infants typically undergo a hearing screening before they reach one month old to detect any issues early on. Hearing impairments can vary in severity, with some children having partial hearing abilities while others may be completely deaf. Genetic factors can play a role in the development of hearing impairments.
Specific Language Impairment (SLI) is a communication disorder that primarily affects a person’s ability to understand and use language effectively. Individuals with SLI may struggle with various aspects of language, including speaking, listening, reading, and writing. They may struggle to form sentences, find the right words, understand grammar rules, or follow conversations.
When a woman consumes alcohol during pregnancy, it can lead to a range of conditions known as Foetal Alcohol Spectrum Disorders (FASDs) in her baby. These disorders can affect the developing foetus, including impairments in learning, growth, and development.
The signs and indicators of congenital anomalies can differ significantly based on the type and seriousness of the disorder. Some abnormalities are noticeable before birth, while others become apparent later during infancy or childhood.
The precise causes of most congenital anomalies remain unknown, but certain factors, known as risk factors, can increase the likelihood of having a baby with a congenital disability.Â
Congenital anomalies can happen at any point during pregnancy, but the majority occur within the first three months, which is a critical period when the baby’s organs are forming. It’s important to note that having a risk factor doesn’t guarantee your baby will be affected, but it may elevate the chances.
Genetics play a crucial role in determining the health and development of an individual. An altered or ‘faulty’ gene, where the information contained within the gene is either changed or missing, can lead to various genetic disorders or conditions.
During pregnancy, individual factors can influence the health and outcome of the pregnancy. One is Rhesus or Rh disease, where the mother’s blood and the baby’s blood may be incompatible, which can lead to complications.
Maternal age and certain ethnic backgrounds have been linked to a higher risk of congenital anomalies. Additionally, consanguinity, where parents share a close genetic relationship, can also increase the likelihood of birth defects. When couples have similar genetic backgrounds, they may carry common gene variations that could lead to birth defects in their offspring.
Some types of fish, such as shark, orange roughy, swordfish, and ling, contain high levels of mercury, which can be harmful to the nervous system of the baby. To minimise mercury exposure, pregnant women should avoid consuming these types of fish.
Exposure to drugs and alcohol during pregnancy, including alcohol, tobacco, illegal drugs, and certain medications, can increase the risk of congenital anomalies in the baby. This risk extends to complementary and traditional medicines, such as Ayurvedic remedies.
Being obese during pregnancy is linked to a higher risk of several complications, including congenital anomalies in the baby, stillbirth, and infant death.
Environmental factors, including exposure to pesticides, chemicals like lead and mercury (found in certain cleaning products), and radiation from sources such as x-ray machines, can elevate the risk of congenital disabilities and should be minimised whenever feasible during pregnancy.
If you have diabetes before getting pregnant, it’s called pre-gestational diabetes, and it can affect your pregnancy in certain ways. Poorly managed blood sugar levels before and during pregnancy can increase the chances of congenital anomalies.
Infections like rubella and chickenpox that can be prevented with vaccines can pose significant risks to the developing baby, potentially leading to anomalies affecting various organs such as the brain, heart, limbs, and eyes.
Some infections can harm unborn babies. Cytomegalovirus (CMV), spread through bodily fluids, and toxoplasmosis, caused by a parasite, pose risks. Pregnant women should practise good hygiene, like washing hands after handling bodily fluids, and take precautions to avoid exposure to toxoplasmosis, such as properly handling and cooking meat and avoiding cat litter. These measures can protect unborn babies from serious harm.
Ensuring adequate nutrition during pregnancy is essential for the health of both the mother and the baby. Consuming sufficient folate in foods like asparagus, broccoli, oranges, bananas, chickpeas, or a folic acid supplement can help prevent neural tube defects. Iodine deficiency can also lead to intellectual disabilities in children.
Genetics play a crucial role in determining the health and development of an individual. An altered or ‘faulty’ gene, where the information contained within the gene is either changed or missing, can lead to various genetic disorders or conditions.
During pregnancy, individual factors can influence the health and outcome of the pregnancy. One is Rhesus or Rh disease, where the mother’s blood and the baby’s blood may be incompatible, which can lead to complications.
Maternal age and certain ethnic backgrounds have been linked to a higher risk of congenital anomalies. Additionally, consanguinity, where parents share a close genetic relationship, can also increase the likelihood of birth defects. When couples have similar genetic backgrounds, they may carry common gene variations that could lead to birth defects in their offspring.
Some types of fish, such as shark, orange roughy, swordfish, and ling, contain high levels of mercury, which can be harmful to the nervous system of the baby. To minimise mercury exposure, pregnant women should avoid consuming these types of fish.
Exposure to drugs and alcohol during pregnancy, including alcohol, tobacco, illegal drugs, and certain medications, can increase the risk of congenital anomalies in the baby. This risk extends to complementary and traditional medicines, such as Ayurvedic remedies.
Being obese during pregnancy is linked to a higher risk of several complications, including congenital anomalies in the baby, stillbirth, and infant death.
Environmental factors, including exposure to pesticides, chemicals like lead and mercury (found in certain cleaning products), and radiation from sources such as x-ray machines, can elevate the risk of congenital disabilities and should be minimised whenever feasible during pregnancy.
If you have diabetes before getting pregnant, it’s called pre-gestational diabetes, and it can affect your pregnancy in certain ways. Poorly managed blood sugar levels before and during pregnancy can increase the chances of congenital anomalies.
Infections like rubella and chickenpox that can be prevented with vaccines can pose significant risks to the developing baby, potentially leading to anomalies affecting various organs such as the brain, heart, limbs, and eyes.
Some infections can harm unborn babies. Cytomegalovirus (CMV), spread through bodily fluids, and toxoplasmosis, caused by a parasite, pose risks. Pregnant women should practise good hygiene, like washing hands after handling bodily fluids, and take precautions to avoid exposure to toxoplasmosis, such as properly handling and cooking meat and avoiding cat litter. These measures can protect unborn babies from serious harm.
Ensuring adequate nutrition during pregnancy is essential for the health of both the mother and the baby. Consuming sufficient folate in foods like asparagus, broccoli, oranges, bananas, chickpeas, or a folic acid supplement can help prevent neural tube defects. Iodine deficiency can also lead to intellectual disabilities in children.
Congenital anomalies are often detected through genetic testing, which involves analysing small samples of blood or saliva (spit). These tests can be conducted before birth, immediately after birth (such as newborn screening), or later in life.Â
During pregnancy, genetic testing can also be performed on amniotic fluid through a procedure called amniocentesis or on the placenta through chorionic villus sampling. Additionally, genetic testing can be part of in vitro fertilisation (IVF), where embryos are tested before being implanted into the uterus.Â
Before birth, prenatal testing is conducted to assess the health and development of the foetus. If the test results raise concerns, parents may opt for additional testing to obtain more detailed information about the baby’s health status.
Newborn screening is conducted to test newborn babies for certain health conditions shortly after birth. These tests aim to identify conditions that may not be apparent at birth but are treatable if detected early. With the parents’ consent, the baby’s blood is usually collected via a heel prick and tested for various conditions.
Some conditions screened for include Phenylketonuria (PKU), congenital hypothyroidism, sickle cell disease, and around 30 other conditions, depending on the specific screening program in place.Â
If a congenital disability is not detected during pregnancy or through newborn screening, other testing may be necessary. In cases where there is a family history of genetic illnesses or if the baby displays symptoms suggestive of a genetic condition, parents may opt for additional testing.
A genetic counsellor can provide guidance and support to help parents navigate the decision-making process and determine the most beneficial tests.
Treatment options for congenital anomalies depend on the specific condition and its severity. In some cases, corrective measures can be taken before birth or shortly afterwards. However, the impact may be long-term for certain defects, potentially affecting the child throughout their life.Â
While mild defects may cause stress, they typically do not significantly impact the overall quality of life. On the other hand, severe congenital anomalies like cerebral palsy or spina bifida can lead to long-term disability or even pose life-threatening risks.
In treating certain congenital anomalies or reducing the risk of associated complications, medications can play a crucial role. Depending on the specific condition, medications may be administered directly to the affected individual or prescribed to the mother during pregnancy to address abnormalities in the developing foetus before birth.
Surgery plays a vital role in addressing certain congenital anomalies by correcting the defect or alleviating harmful associated symptoms. For babies with physical birth defects like cleft lip, plastic surgery may be performed to improve both their health and appearance.Â
Similarly, many babies born with heart defects will require surgical intervention to repair the structural abnormalities in their hearts and restore proper function.Â
Mothers with infants with congenital anomalies will follow specific instructions provided by healthcare professionals for home care. This may include guidance on feeding, bathing, and monitoring the baby’s condition closely.
To minimise the risk of congenital disabilities, women can take proactive steps, including maintaining good health before planning a pregnancy. This is crucial because early foetal development occurs in the first few weeks of pregnancy when many women may not yet realise they are pregnant.
Celebrate your child: Embrace your baby just like any new parent would. Enjoy cuddling, playing, and watching your baby grow, even if their milestones differ. Share your happiness with family and friends, and feel free to send birth announcements if you want. Despite any health issues, your baby is still a special addition to your family, so celebrate their arrival with love and joy.
Learn all you can and get support: It’s important to learn about your child’s condition to ensure they receive the best care. Don’t hesitate to ask questions to your child’s doctors and care team. Connecting with others who have experienced similar situations can provide valuable support and insights.
Consider joining a support group, which you can find online or through your healthcare provider or a social worker, to connect with others facing similar challenges and share experiences.
Acknowledge your emotions: Acknowledge the range of emotions you may feel, including shock, denial, grief, and anger. Discussing these feelings openly with your partner and family is essential. Seeking support from professionals like social workers, psychologists, or counsellors can also be beneficial.
Keep records: You can maintain organised healthcare records for your child using a notebook or phone. This helps track appointments, medications, and treatments, ensuring you have essential information readily available for discussions with healthcare providers. Additionally, it enables monitoring your child’s progress and identifying any changes in their condition over time.
Find alternative methods to finance care and treatment: Caring for a child with a health condition may come with additional expenses beyond what health insurance covers. Nonprofit disability organisations, private foundations, Medicaid, and state and local programs are potential sources of financial assistance.
A social worker can guide you on accessing these resources and offer support in navigating the available options to alleviate financial burdens associated with your child’s healthcare needs.
There is no cure for congenital anomalies, particularly genetic conditions. However, treatment can help alleviate your child’s symptoms and minimise the risk of life-threatening complications, especially if the symptoms are severe.
Congenital anomalies vary in severity, some mild and treatable, without causing long-term issues. In contrast, others can be severe and even life-threatening, depending on the affected body part and the extent of the condition.Â
Birth defects can lead to physical problems, intellectual and developmental disabilities, or both. Intellectual and developmental disabilities can affect a person’s functioning, including physical development, learning, communication, self-care, and social interaction.
Babies born with birth defects often require specialised medical care and treatments, such as medications or surgery. They may also need assistive devices like hearing aids for hearing loss or special therapies like speech therapy to address specific challenges.
Not all future children will necessarily be affected by the same congenital anomaly, as it depends on the underlying cause. If the defect was due to a genetic mutation, there may be a higher chance of it occurring again in subsequent pregnancies. However, seeking care from specialised centres with maternal-foetal medicine specialists and genetic counsellors can help assess the risk for future pregnancies.
It’s important to note that these signs may vary in severity and presentation among children with cerebral palsy. If you suspect your child may have cerebral palsy or if you notice any of these signs, it’s essential to consult with a healthcare professional for proper evaluation and diagnosis.
There is no cure for congenital anomalies, particularly genetic conditions. However, treatment can help alleviate your child’s symptoms and minimise the risk of life-threatening complications, especially if the symptoms are severe.
Congenital anomalies vary in severity, some mild and treatable, without causing long-term issues. In contrast, others can be severe and even life-threatening, depending on the affected body part and the extent of the condition.Â
Birth defects can lead to physical problems, intellectual and developmental disabilities, or both. Intellectual and developmental disabilities can affect a person’s functioning, including physical development, learning, communication, self-care, and social interaction.
Babies born with birth defects often require specialised medical care and treatments, such as medications or surgery. They may also need assistive devices like hearing aids for hearing loss or special therapies like speech therapy to address specific challenges.
Not all future children will necessarily be affected by the same congenital anomaly, as it depends on the underlying cause. If the defect was due to a genetic mutation, there may be a higher chance of it occurring again in subsequent pregnancies. However, seeking care from specialised centres with maternal-foetal medicine specialists and genetic counsellors can help assess the risk for future pregnancies.
It’s important to note that these signs may vary in severity and presentation among children with cerebral palsy. If you suspect your child may have cerebral palsy or if you notice any of these signs, it’s essential to consult with a healthcare professional for proper evaluation and diagnosis.
1. Better Health. Birth defects explained.
2.Boston Children’s Hospital. Birth Defects and Congenital Anomalies.
3. Cleveland Clinic. Birth defects.
4. Healthine. Birth Defects
5. Medical News Today. Birth defects: Symptoms, diagnosis, and treatment.
6. Nemours Kids Health. Birth defects
7. World Health Organization. Congenital disorders.
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