CONGENITAL CONDITIONS IN BABIES

While they are developing in the womb, a small number of babies will develop problems with the formation of their body and organs. These are known as congenital conditions (meaning that they are present from birth) and it is not always clear why they happen.

Congenital conditions, of which there are thousands of types, can affect up to 1 in 49 babies. While some do not require any treatment, others might cause a disability or require major surgery to correct.

Common Congenital anomalies in babies

1. Cleft lip and cleft palate

Around 1 in every 700 babies born in the UK have a gap or ‘cleft’ in their upper lip or roof of the mouth (the palate) or both, and in most cases it is not clear why this has happened. A cleft lip can be anything from a small notch to a wide gap that reaches the nose, and can be on one or both slides of the mouth. A cleft palate may be anything from a small opening at the back of the mouth to a split which runs all the way from the back to the front of the palate. Cleft lip is often detected on the mid-pregnancy scan. Cleft palate that occurs on its own, however, is difficult to see on a scan but will be spotted at the newborn baby health check.

A cleft lip and palate can cause problems with feeding, speech, hearing, and correct development of teeth. Your baby will be referred to a specialist team and you will be advised of when surgery can take place. You will also be able to see photos of babies before and after surgery to help reassure you that your baby’s condition can be treated very effectively. In addition, parents will be offered help with feeding the baby, and the baby’s speech and hearing will be monitored. Most children will have no further problems after surgery. For more information visit the cleft lip and palate association website opens in a new tab/window .

2. Cerebral palsy

Cerebral palsy occurs when a baby’s brain does not develop normally or is damaged during or soon after birth. The symptoms may not be obvious at birth and are generally noticed in the baby’s first 3 years. Depending on how much damage was caused to the brain, the symptoms may be mild in some people and severely disabling in others. In babies and young children, typical symptoms are:

• Reaching developmental milestones (e.g. for sitting and walking) later than expected
• Muscles that are too stiff or too floppy, and weakness in the arms or legs
• Movements that are not normal, such as fidgeting or being clumsy, or walking on tip-toes
• Difficulties with swallowing or speaking
• Sight problems
• Learning disabilities

There is no cure for cerebral palsy, but parents and children with the condition will be offered help in managing the symptoms. This can include physiotherapy and speech therapy, medication to help with muscle stiffness, and in some cases surgery to help improve mobility and posture and ensure healthy growth. Most children with cerebral palsy live into adulthood, and may live full, independent lives, although this depends on the severity of the symptoms. The charity Scope opens in a new tab/window offers help and support for children with cerebral palsy and their families in the UK.

3. Fragile X syndrome

Fragile X syndrome is the most common inherited cause of learning disability, occurring in around 1 in 4,000 boys and 1 in 6,000 girls in the UK. The condition causes a wide range of learning and behavioural problems, which can be mild, moderate or severe.

Some children with Fragile X syndrome will have hyperactive behaviour, a short attention span, fidgeting, hand flapping or hand biting. Some will also have difficulties with social interaction similar to someone with autism, severe shyness and social anxiety, and delayed speech. As the child grows, some facial features may become apparent, such as a long narrow face, with prominent jaw bones and ears. Some children may experience seizures. Fragile X syndrome can be diagnosed by a blood test of the child using DNA analysis. If your child is diagnosed with the condition you will be offered genetic counselling and tests.

Fragile X syndrome can occur in boys and girls, but it is usually more severe in boys. It is a genetic condition that arises from changes on the X chromosome in a specific gene that normally makes a protein necessary for brain development.

Fragile X syndrome cannot be cured, and the support provided depends on the individual needs of the person with the condition. The Fragile X society opens in a new tab/window  offers help and support for families affected by Fragile X syndrome.

4. Down’s syndrome

Down’s syndrome (also known as Down syndrome and Trisomy 21) is a condition that causes some level of learning disability and physical characteristics. Babies with Down’s syndrome are often below average size and are likely to be floppy at birth.

Down’s syndrome is caused because one of the chromosomes that carry genetic information is duplicated. All women have a chance of having a baby with Down’s syndrome although this increases with the age of the mother. A woman who is 20 years old has a 1 in 1500 chance of having a baby with Down’s syndrome, while a woman who is 40 has a 1 in 100 chance. Nothing you or your partner has done or not done can make any difference to this chance. Pregnant women in the UK (except Northern Ireland) are offered screening tests for Down’s syndrome.

Children with Down’s syndrome have a higher chance of conditions affecting the heart, vision, hearing and the immune system. The good news is the majority of these health conditions can be successfully treated.  Your baby will be followed up by a Paediatrician either at the hospital or community clinic so that their health and growth can be monitored.

Children with Down’s syndrome will require differing levels of support depending on their needs, which cannot be predicted before the baby is born.  This may include speech and language therapy, physiotherapy and access to healthcare specialists. Development and learning new things may take longer but there is now a greater understanding of how children with Down’s Syndrome learn and educational support can be provided.  

Opportunities for inclusion within society are greater than ever before.  Adults with Down’s Syndrome today can lead fulfilled lives with most living into their 60’s and longer. With support, many more adults are now able to get jobs, have relationships and live more independently.

Charities such as the Down’s Syndrome Association opens in a new tab/window  provide support for parents and carers of children with Down’s syndrome.  Visit their website or call their Helpline on 0333 12 12 300.

5. Spina bifida

Spina bifida opens in a new tab/window happens when a baby’s spine and spinal cord do not develop properly in the womb. It is not known why this sometimes happens, but a lack of folic acid in the mother’s diet before and during early pregnancy can increase the risk.

In the most severe form of spina bifida, the spinal cord and protective membranes push out through a large gap in the spinal column, forming a sac or bulge in the baby’s back. This is usually what people are referring to when they talk about spina bifida. There are other, less severe forms, in which only the membranes are pushed out, or where the gap is too small to cause any problems, and people may grow up unaware of it. Most cases of spina bifida are detected during the mid-pregnancy scan and the implications for your baby will be discussed in detail with you.

Spina bifida is usually treated by a surgical operation to close the gap. In severe cases, however, there is likely to be nerve damage that cannot be cured, including weakness or paralysis of the legs, incontinence, and inability to feel heat and cold in the legs.

Some children with spina bifida may develop fluid build-up in the brain (‘hydrocephalus’) that can lead to brain damage, and some may have learning difficulties. Hydrocephalus will often require urgent surgical treatment to drain the fluid and the insertion of a permanent “ shunt” to keep fluid from collecting. Other treatments for spina bifida include physiotherapy and occupational therapy, mobility equipment such as a wheelchair or walking aids if necessary, and treatments for bowel and urinary problems. Support can also be obtained from charities such as Shine opens in a new tab/window . With the right treatment and support, many children with spina bifida survive will grow up to lead independent, fulfilling adult lives.

6. Cystic fibrosis

Cystic fibrosis is an inherited condition caused by a faulty gene that affects the flow of salt and water into and out of the body’s cells. One in 25 people in the UK carry the faulty gene, and if two carriers have a baby there is a 1 in 4 chance of that child having cystic fibrosis.

Cystic fibrosis causes sticky mucus to build up in the body’s organs, especially the lungs and digestive tract. This means that babies with the condition are more likely to catch lung infections and have problems digesting food, which leads to poor growth. Sometimes, babies with cystic fibrosis have a blocked bowel, a condition called meconium ileus.

Cystic fibrosis is usually detected soon after birth as part of the newborn heel prick blood test or  blood spot test. If the test is positive, additional tests will be carried out to confirm the diagnosis. There is no cure, but treatment and support can help to control the symptoms and minimise long-term damage. This includes rigorous daily exercises to help keep the lungs clear of mucus and antibiotics to prevent and treat lung infections. Parents will also be given a special diet plan, including enzyme supplements to help digest food, so that their baby can gain weight properly.

Your baby will be followed up by a specialist paediatric team who will closely monitor your baby’s health and growth. New advances in medication and overall treatment mean that babies born with cystic fibrosis now have a much better chance of survival into adulthood than at any time in the past and life expectancy continue to improve. 

Information for parents and carers support is provided by the Cystic Fibrosis Trust. opens in a new tab/window

7. Heart conditions

Heart conditions are one of the most common congenital conditions, affecting around eight of every 1000 babies born in the UK. In most cases there is no obvious cause of the heart problem, but the risk can be increased if the mother smokes or drinks alcohol, takes some types of medication, or has poorly controlled diabetes during pregnancy. Many heart problems can be detected during the mid-pregnancy ultrasound scan, but some will not become apparent until after the baby is born. If a heart problem is detected on a scan, your unborn baby will be monitored and their condition and any treatment required will be discussed with you.

There are several types of congenital heart problem, including septal defects where there is a gap between the different parts of the heart (a ‘hole in the heart’), narrowing of the vessels that bring blood to and from the heart, and structural problems where the heart has not developed properly.

Symptoms of congenital heart disease in babies and children include a fast heartbeat and rate of breathing, fluid retention with swelling of the legs, abdomen or face around the eyes, extreme tiredness, poor feeding, excessive sweating, and a blue colour to the skin. In more severe cases, these problems will be noticeable soon after birth, but milder conditions may not cause problems until later in life.

Treatment of congenital heart disease will depend on the type of defect and the symptoms that it is causing. If your baby has only a mild defect, they may not need any treatment at all. If they have a more serious problem, they may need surgery. This can often re-establish most or all of the proper function of the heart. Even when treated, however, children and adults with congenital heart disease will often continue to be monitored by a cardiologist during childhood and into adulthood in case other problems develop.