Congenital malformations are abnormalities that develop before or during the fetus’s life, often in the form of defects in the bones, organs or limbs. These anomalies can range from minor to severe, and they can have serious impacts on a child’s health and development.
They can also cause lifelong problems. The outlook for a child with a congenital malformation depends on the specific diagnosis, how severe it is and whether or not it gets care and support early after birth.
There are many types of congenital malformations, including heart defects and other conditions that affect the brain and spinal cord. Each type has different symptoms.
The most common symptoms of congenital heart defects include growth delays, changes in the color of the lips or tongue, and hearing a murmur (sound made by the heart). In some cases, a murmur may indicate that there is a problem with your baby’s heart.
Some congenital malformations can be treated or managed with medication. Other types require surgery by a doctor who specializes in the treatment of the affected part of the body.
Most congenital digestive tract malformations can be diagnosed using a prenatal ultrasound. This is a special test that uses soundwaves to create a picture of your baby’s digestive system, while a biopsy (removal of tissue from the digestive tract) is used to confirm the diagnosis.
This test is usually carried out by a gynaecologist or obstetrician who carries out pregnancy check-ups and can diagnose any possible malformations.
There are a number of tests that can help doctors to determine the severity of a malformation, such as chorionic villus sampling (CVS). CVS is a type of ultrasound that allows the doctor to see the inside of your baby’s stomach and intestines, while removing a sample of tissue from the area.
If your child’s condition is diagnosed, your doctor will discuss the best treatment options with you and any other specialists. A paediatric surgeon will be the primary physician, but you may also need to see a craniofacial plastic specialist or geneticist for further consultation.
In rare situations, your doctor may recommend a bone scan to look at the bones of your baby’s skull and spine. These scans can identify the severity of certain conditions, such as spina bifida or encephalocele.
Your doctor will also likely recommend an MRI scan to look at the brain and spinal cord. This can detect a variety of malformations that can be corrected through surgery by a pediatric neurosurgeon.
Some of these malformations can be mild and aren’t causing any symptoms in your baby, so your doctor may suggest observation, which means regular visits and testing to monitor your child’s progress.
Other congenital conditions can be more severe, requiring surgery by a pediatric surgeon and ongoing medical care throughout your child’s life. These include a heart defect called tricuspid atresia, which causes the valve between the right upper heart chamber and the right lower heart chamber to be underdeveloped.
