Birth defects are fairly common in the UK, affecting thousands of newborn babies each year. Recently, there has been a significant increase in certain types of birth defects and it is now estimated that 1 in 16 births result in some kind of birth defect (these statistics take all birth defects into account, rather than just serious birth defects).
Many birth defects are mild and can be easily treated; however some are more serious and have lifelong effects. All expectant mothers in the UK are invited to have screening tests that can detect early signs of certain types of birth defect. These tests are not compulsory but many parents choose to have them so that they can have peace of mind.
Testing for birth defects
Some birth defects cannot be identified until after the baby is born but some can be detected by testing during pregnancy. All pregnant women are offered antenatal screening and scans during their pregnancy. Some choose to have the tests, while others choose not to have them. Examples of tests are listed below:
Most expectant mothers have ultrasound scans at around 12 and 18-20 weeks; the 12 week scan is usually used to predict the birth date and the 18-20 week scan is used to check the progress and health of the baby. The 20 week scan is known as the anomaly scan because it checks for any anomalies in the baby�s growth; the scan enables doctors to check the function and structure of the major organs and the growth of the limbs. The anomaly scan can detect certain abnormalities but it cannot detect some problems; some heart defects, for example, cannot usually be identified by ultrasound scans.
Chorionic Villus sampling (CVS)
CVS sampling is usually carried out at around 13 weeks; it involves testing a sample of the placenta, which is achieved by either passing a needle through the abdomen wall or using a small tube which is inserted into the cervix.
This test is usually carried out at around 15 weeks; it involves taking a sample of the amniotic fluid that surrounds the foetus. This test can be used to detect chromosomal abnormalities, which may cause conditions such as Down�s syndrome.
Percutaneous umbilical blood sampling
This test is usually used if a possible abnormality has been detected by an ultrasound scan; it allows doctors to analyse the chromosomes.
Coping with screening results
Although most tests are returned clear, some parents have the agonising news that something may be wrong with their unborn child. Being upset, confused and angry are natural responses to this kind of news. However, it is important to remember that not all birth defects are severe. Many are mild and can be treated.
Health professionals recognise that this is a difficult time for prospective parents and have systems in place to help parents through this difficult period of time. The NHS will arrange professional help and support for those parents that want it and doctors and specialists will take time to explain the results of the screening tests and talk about the future health of the child with them. If you need additional help you can contact charities, such as the Antenatal Results and Choices, which deal specifically with parents of children with birth defects or contact the 24 hour helpline run by NHS hospitals.
Common birth defects
Cleft lip and palate
A cleft lip and palate is the most common birth defect in the United Kingdom, affecting around 1 in 700 newborn babies.
What is a cleft lip and palate?
A cleft lip and palate occurs when there is a split or an opening in the upper lip or the palate. In some cases, there may be clefts in both the lip and the palate. 50 percent of babies born with a cleft have a cleft lip and palate, 25 percent have a cleft lip and 25 percent have a cleft palate.
What causes clefts?
Clefts occur when the skull is not formed correctly. As the foetus grows, the two parts of the skull come together and connect at the mouth and the nose. In babies with a cleft lip and palate the fusion has not happened fully and a split or gap develops. The following risk factors can increase the chances of a mother having a baby with a cleft lip and palate:
- Family history of cleft lips and palates
- Smoking throughout pregnancy
- Drinking alcohol throughout pregnancy
- Being obese
- Having a low intake of folic acid
Effects of a cleft lip and palate
Aside from the physical changes to the appearance of the baby, cleft lips and palates can cause other problems; these include:
- Problems with feeding
- Increased susceptibility to ear infections
- Speech development problems
- Vulnerability to dental health problems
- Psychological issues, which may be caused by a lack of confidence relating to the way the person looks
What treatments are available?
All babies that are born with a cleft in England will be referred for specialist care at a cleft clinic. Here the child will benefit from long-term care from a team of specialists including surgeons, cleft nurses, psychologists, orthodontists, audiologists, paediatricians and speech and language therapists. During the first few days, the team will draw up a care plan for the baby, which will allow parents to get an idea of the treatment their baby will have and when it will be done. Generally, surgery to correct a cleft lip will be carried out during the first 3 months of the baby�s life and surgery to correct a cleft palate will be carried out at around the 6 month mark. After surgery has been completed, the baby will have treatments to test and improve their hearing and speech.
Surgery is now very advanced and the results are usually very good. Sometimes additional surgery may be required to improve the overall look and function of the child�s mouth but some children only require the initial operations to correct the lip or the palate.
Restricted growth usually categories into two different types; these are known as proportionate short stature and disproportionate short stature. Proportionate short stature refers to shortness in the body, as well as the legs and is usually a result of a person having short parents.
Disproportionate short stature is a type of birth defect that causes people to have disproportionate growth. Usually, certain limbs may be shorter than others, the legs may be disproportionate to the body or there may be a general lack of growth which causes the person to be very short (most people with DSS only grow to between 3�6 and 4�6). It is estimated that around 300,000 people in the UK have disproportionate short stature.
What causes disproportionate short stature?
Most cases of DSS are caused by genetic mutations. Most people with this condition have average-height parents and the condition is usually present from birth.
What are the symptoms of disproportionate short stature?
Aside from the obvious shortness in comparison with other people, DSS can also cause other symptoms; these include:
- Back problems
- Scoliosis (curvature of the spine)
- Bowed legs, which can affect movements such as walking and running
- Hearing difficulties
- Problems with balance
- Sleep apnoea
Are there any treatments available?
Treatments are usually used to ease symptoms that present as a result of the condition. People with this condition are referred to specialist teams who will ensure they have the necessary treatment and support throughout their lives. Children will visit their care team on a regular basis to check their development and ensure they are healthy. In extreme cases, people may have leg lengthening surgery; however, this is rare as it carries risks.
Foetal alcohol syndrome
Each year around 6,000 babies are born with foetal alcohol syndrome. This condition is caused by the mother drinking alcohol during their pregnancy.
Symptoms and effects of foetal alcohol syndrome
Drinking during pregnancy can be extremely harmful; possible effects of alcohol include:
- Small head
- Low birth weight
- Slow development
- Poor coordination skills
- Facial abnormalities
- Learning difficulties
- Poor social skills
- Mental illness
There is no treatment for FAS; the effects are long-lasting and can potentially be very damaging. However, there are therapies available to deal with some of the symptoms and effects of FAS. Children that are born with foetal alcohol syndrome often have behavioural problems and struggle at school; they will often require additional help and support with school work and may need professional help for their behaviour and mental wellbeing.
Preventing foetal alcohol syndrome
It is possible to prevent foetal alcohol syndrome by avoiding drinking alcohol during pregnancy; having one drink for a special occasion wont damage your baby but it is best to avoid drink altogether.
Preventing birth defects
Some birth defects cannot be prevented but others can; below are some tips to help keep yourself and your baby healthy throughout your pregnancy and reduce the risk of having a baby with a birth defect:
- Make sure you are up to date with your vaccinations
- Make sure you do not have a sexually transmitted infection before you try for a baby
- Increase your intake of folic acid
- Stop smoking
- Avoid alcohol
- Check with your midwife or doctor before you take medication
- Speak to your doctor if you have any health conditions or you have family history of birth defects
- Avoid drugs
- Eat healthily and drink plenty of fluids
- Exercise regularly (this need only be gentle exercise)
- Avoid stressful situations
- Have screening tests (in some cases defects can be cured before birth if they are detected early on)
- Get plenty of rest