Do you know what functional birth defects are? Here is all that you need to know about functional birth defects.Once a woman announces she is expecting a baby, she is flooded with a lot of advice. But it is important to have the right information about the dos and don’ts of pregnancy because an unhealthy lifestyle may contribute to some functional
birth defects.
What Are Functional Birth Defects?
Birth defects that cause a problem with the functioning of a particular organ or body system are called functional birth defects. These can be categorised into several classes:
- Sensory problems such as deafness, blindness or defective vision
- Nervous system problems such as mental retardation, speech and language difficulties, learning disorders, Down’s syndrome, Prader-Willi syndrome and autism
- Degenerative disorders such as muscular dystrophy and Rett syndrome
- Metabolic disorders such as hypothyroidism and phenylketonuria
Causes of Functional Birth Defects and Who is at Risk
Functional birth defects are due to some problem with the genes and chromosomes that get passed on to the baby. These genetic defects may be induced due to several factors. Drinking alcohol and smoking during pregnancy is one of the biggest risk factors for such defects. Some drugs and medications can go from the mother to the baby through the placental barrier and cause damage. The presence of an untreated viral or bacterial infection also increases the risk of giving birth to a baby with functional birth defects. Research studies from all over the world are increasingly pointing to maternal obesity and diabetes as risk factors for functional birth defects.
Signs and Symptoms of Functional Birth Defects
Most functional birth defects manifest after birth and can be detected by carrying out diagnostic tests.Some of the common symptoms that may be seen are:
- Developmental delays
- Breathing problems
- Feeding problems
- Seizures
- Vision and hearing problems
Babies with phenylketonuria appear normal initially; later, they may develop skin problems such as eczema, behavioural problems, seizures and intellectual disabilities.
Hypothyroidism can cause the baby to gain excessive weight and also feel excessively tired. Some children also develop dry skin, constipation, a puffy face and muscle weakness.
In case of Duchenne muscular dystrophy, symptoms appear around the age of 1 year. First, the muscles of the thigh and pelvis appear bulky; then the baby exhibits difficulty in standing up, walking and jumping. As the child grows, there will be speech and learning disability.
Down syndrome is recognizable by distinct facial features and mental retardation along with defects of the heart.
Functional Birth Defects Screening and Diagnosis
Screening for functional birth defects can be conducted before a couple plans on conception. This involves the study of family history along with some genetic tests and can help to identify if there is a specific risk. During pregnancy, ultrasound and blood tests can be used to identify abnormalities in the foetus. Testing the new born can be done through a clinical examination as well as laboratory studies of blood samples for metabolic and hormone disorders.
Treating Functional Birth Defects
Some functional birth defects can be treated with medication or surgery; but in most cases, there cannot be a permanent cure of the condition and there will be a need for palliative care. For example, heart defects in a baby with Down syndrome can be surgically corrected but not the other problems and antibiotics can help manage sickle cell disease and cystic fibrosis. In some other disorders such as Tay-Sachs disease that severely affects the central nervous system, the baby does not survive beyond the first few years.
Preventing Functional Birth Defects
While most functional birth defects are difficult to
prevent, there are few things that have been widely recognized as risk factors. Avoiding these and taking the right measures can help increase the chances of giving birth to a healthy baby without any defects.
- Get enough nutritious food that is rich in vitamins, especially folic acid. Take supplements as advised by the doctor.
- Make sure you do not have a sexually transmitted disease before your conceive.
- Avoid the use of prescription medication including over the counter medicines during your pregnancy.
- Keep away from alcohol, illicit drugs and cigarette smoke
Functional birth defects have a genetic basis and therefore, a family history of such problems can indicate a much higher risk. This can be confirmed by the results of screening tests that identify genetic abnormalities. Therefore, it is vital to follow the doctor’s recommendation about getting the necessary tests before and during the pregnancy.
