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How Radiology Can Help Identify Congenital Anomalies

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A congenital anomaly, also known as a birth defect, congenital abnormality, or congenital malformation, is a structural or functional abnormality that occurs during a foetus’s development in the uterus. It can be identified prenatally, at birth, or early in a child’s life. While some are more severe than others, a birth defect can affect a baby’s overall health and development.

Radiology plays a pivotal role in the early detection of congenital anomalies. Here’s what you need to know.

  1. What are the major causes of congenital abnormalities?
  2. Common birth defects
  3. How medical imaging plays a crucial role in diagnosing congenital anomalies
  4. How to avoid birth defects during pregnancy
  5. When should you speak to a doctor?

What are the major causes of congenital abnormalities?

A congenital abnormality is primarily caused by three factors: genetics, inherited causes and environmental factors.

1. Genetic abnormalities include:

  • A single gene mutation, a change in the DNA sequence, can lead to chronic illnesses or disorders.
  • Chromosomal abnormalities, a change in the structure or number of chromosomes, often result in conditions like Down syndrome, Edwards syndrome, and Patau syndrome. These changes can be caused by duplicated, deleted, translocated, or inverted chromosomes.

2. Inherited causes include:

  • Smoking, drug use, exposure to certain chemicals and excessive alcohol consumption can lead to birth defects.
  • Poor nutrition, most notably a lack of folic acid and essential nutrients during pregnancy, can increase the risk of neural tube defects.
  • Infections such as the Zika virus or German measles during pregnancy can result in congenital anomalies occurring.

3. Environmental factors include:

  • The exposure to high levels of radiation. This can sometimes result from medical procedures or the environment in which you live or work.
  • Maternal age. Women over 35 are at far greater risk of chromosomal anomalies occurring, especially if this is their first child.

Common birth defects

Any number of birth defects can occur as a result of problems arising during pregnancy. The most common defects are:

1. Down syndrome

Down syndrome is a chromosomal disorder caused by an extra chromosome 21. It often leads to intellectual and developmental delays.

foetal down syndrome scan sample
Image 1: Down Syndrome with Nuchal thickening >3 mm

2. Cleft lip and palate

Cleft lip and palate are a facial malformation. It’s an opening or gap in the upper lip or roof of the mouth (palate).

foetal  unilateral and bilateral cleft lip ultrasound
Image 2: from left; Unilateral and Bilateral cleft lip scans.

3. Congenital heart defects

Congenital heart defects are abnormalities in the structure of the heart. They can affect the heart’s chambers, valves, or blood vessels.

foetal  Small/Hypoplastic left heart syndrome scan
Image 3: Small/Hypoplastic left heart syndrome.

4. Neural tube defects

Neural tube defects are due to the incomplete development of the brain, spinal cord, or protective coverings. Spina bifida is a common neural tube defect.

foetal  Spina Bifida scan
Image 4: Spina Bifida scan

5. Clubfoot

Clubfoot is a congenital deformity where a baby’s foot is twisted out of shape or position.

foetal Clubfoot Scan
Image 5: Clubfoot scan

6. Fetal alcohol syndrome

Fetal alcohol syndrome is caused by excessive maternal alcohol consumption during pregnancy and can result in physical and cognitive developmental issues in the child.

Fetal alcohol syndrome scan
Image 6: Fetal alcohol syndrome ultrasound

7. Spinal muscular atrophy

Spinal muscular atrophy is a genetic disorder that affects the control of muscle movement due to the loss of motor neurons in the spinal cord.

Spinal muscular atrophy scan
Image 7: Spinal muscular atrophy scan

How medical imaging plays a crucial role in diagnosing congenital anomalies

Doctors know that radiology is key to identifying congenital anomalies in foetuses, infants, and adults. It does this by providing detailed images of internal structures and organs. Several types of scans can be used to diagnose congenital disabilities. The imaging modality used depends on which part of the body is being assessed, the patient’s age, and whether the patient is pregnant.

Your medical team will advise which radiology technique would be best for you. Here’s what they may recommend.

1. Ultrasound

Ultrasound non-invasive imaging technique uses high-frequency sound waves to create real-time images of the developing foetus in the womb. It’s really good at detecting structural abnormalities in the heart, brain, spine and limbs. These include:

  • heart defects,
  • brain malformations,
  • clubfoot or
  • Spina Bifida.

2. Magnetic Resonance Imaging (MRI)

MRI uses magnetic fields and radio waves to generate detailed images of the body’s internal structures. It’s vital to detecting congenital anomalies in the brain, spinal cord, heart, and other organs. It’s also safe for pregnant women.

3. Fluoroscopy

Fluoroscopy involves real-time X-ray imaging and can visualise moving structures, such as the heart and blood vessels. It is sometimes employed to assess congenital heart defects and abnormalities in the gastrointestinal tract.

4. X-rays

X-ray imaging can quickly identify skeletal anomalies and specific internal organ abnormalities.

5.Computed Tomography (CT)

CT scans provide detailed cross-sectional images of the body and can be used to identify congenital anomalies in various organs and structures.

While X-rays and CT scans can identify congenital anomalies, they’re not recommended for pregnant women as the risk of exposing the developing foetus to radiation is too great.

Doctors can use the information obtained from radiological studies to diagnose and treat children with congenital anomalies.

How to avoid birth defects during pregnancy

Not all congenital abnormalities can be prevented. But, taking steps to maintain a healthy lifestyle, seeking prenatal care, and avoiding known risk factors can help prevent congenital abnormalities from occurring.

Regular prenatal screening and genetic counselling can also help identify potential risks and provide information for making informed decisions.

  • Get healthy: Give yourself the best chance of an easy pregnancy. That starts with taking care of your physical health. If you’re overweight, get in shape. If you suffer from a chronic condition, speak to your doctor about how you can manage it and address any pre-existing health concerns. It’s a key part of growing a healthy baby.
  • Folic acid supplementation: One of the most important things you can do before getting pregnant is to start taking folic acid. Start as early as six weeks before conception and continue taking it throughout your pregnancy. Getting the minerals you need can significantly reduce the risk of neural tube defects.
  • Balanced diet: Eating a well-balanced diet with various nutrients is vital for foetal development. So make sure to include a mix of fruits, vegetables, whole grains, lean proteins, and dairy in your diet. Try not to feed your sugar cravings too often.
  • Quit smoking and alcohol: If you’re trying to fall pregnant, quit your bad habits and get your partner on board as well. Smoking and alcohol consumption prior to and during pregnancy is associated with an increased risk of congenital abnormalities. Healthy parents are key to a healthy baby.
  • Limit caffeine: Too much caffeine during pregnancy is bad for your baby. In fact, it’s been linked to an increased risk of certain birth defects. So, to give your unborn the best start, stick to drinking rooibos and green teas. Save all other teas and coffee for after the baby is born.
  • Check your medication is safe: Before taking any medication, including over-the-counter drugs and herbal supplements, speak with your doctor to ensure they’re safe during pregnancy. Some drugs can negatively impact your unborn baby, so always check first.
  • Take your prenatal care seriously. Early and consistent prenatal care is vital for monitoring your health and the health of your developing foetus. You should have your first scan between 7 and 9 weeks and every four weeks after that until the last month of pregnancy. These check-ups allow doctors to promptly identify and address potential issues, so don’t skip them.
  • Stay away from harmful substances like chemicals, pollutants and radiation. If you need to clean your drains, get your husband to do it. If you want to paint the baby’s room, ensure your windows are open and wear a protective mask. Or better yet, ask someone else to do it.

When should you speak to a doctor?

Did your pregnancy test come back positive? If so, it’s time to find an obstetrician. Ask your friends if they know of any good ones, or book an appointment with your general practitioner. They’ll know who to refer you to. 

If you have a family history of congenital anomalies or are older than 35, speak to your doctor about taking precautions. They may want to monitor you more closely and send you for medical imaging.

Use this link to book your appointment now with ERAD.

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