National Birth Defects Prevention Month is internationally recognised in January to raise awareness about birth defects.

Birth defects, which are sometimes referred to as congenital anomalies, are structural, genetic or chromosomal changes that affect one or more parts of the body. Although present at delivery, they develop before birth; one in 50 babies are born with a congenital anomaly. Examples of types of birth defect include:

• Agenesis of the corpus callosum – when part of the brain that joins the two hemispheres together is missing
• Anencephaly – when part of the skull and brain does not form properly
• Congenital heart defects
• Diaphragmatic hernia – when there is a hole in the diaphragm through which the bowel can pass
• Down’s syndrome – a chromosome abnormality in this there are 3 copies of chromosome 21 instead of 2
• Gastroschisis – when a hole develops in the abdominal wall during development
• Limb reduction defects – when an arm or leg does not form completely
• Microcephaly – when the brain is not fully developed and the head is very small in relation to the rest of the body
• Neural tube defects – when the spine has not closed over the central nervous tissue – this includes spina bifida
• Patau’s syndrome – a chromosome abnormality in which there are 3 copies of chromosome 13 instead of 2

They may affect how the body looks, works or both. These defects can range from mild to serious and sometimes they can be so serious that the option is given to end the pregnancy.

The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) summary report from 2019 provides statistics regarding birth defects; in the study, there were 13,306 babies with one or more congenital anomalies, including 145 babies with a structural, chromosomal and serious cardiac anomaly.

Not all birth defects are able to be identified before birth but many are. For this reason, during pregnancy, you will be offered antenatal screening tests, which include blood tests and ultrasound scans, and for the minority, the screening tests will show that your baby could be born with a medical condition or birth defect. They cannot tell you whether your baby has a condition; they can only tell you the chances of your baby being affected.

You may then be offered further screening tests, includes non-invasive prenatal testing (NIPT), which is a blood test, further scans and diagnostic tests such as amniocentesis and chorionic villus sampling (CVS). These tests can tell you for certain if your baby has the condition which has been suspected.

It is the parents’ choice as to whether to proceed with these further investigations but if you do and you find out that your baby has the condition they were being tested for, there can be a very difficult decision to make, namely whether to continue with or end the pregnancy. The charity Antenatal Results and Choices (ARC) offers information and support for people who have received a diagnosis after antenatal screening.

Whilst not all birth defects are able to be identified during pregnancy, many are and it is crucial that medical professionals identify any such defects. If a birth defect is missed, such as if there is evidence of a birth defect during the 20 week anomaly scan, this can result in a birth defect not being recognised until after birth. In such circumstances, there can be a negligent failure to identify a birth defect during pregnancy. If this is the case and if, had it been diagnosed during pregnancy, you would not have proceeded with the pregnancy, you may be entitled to bring a claim for clinical negligence.

If you feel that you there has been a negligent failure to identify a birth defect for your child during pregnancy, please contact our sensitive and understanding team to discuss how we may be able to help. We recognise how difficult it is to be in such a position and that you love your child regardless of their difficulties; however, you may have been deprived of vital information that would have enabled you to make an informed decision regarding your pregnancy and you are entitled to seek justice and recongition of this.