What is congenital disorder? All you need to know

A congenital disorder is a functional or structural or functional abnormality that is present from birth. It can be clinically obvious at birth or can be diagnosed later in life. 

A neural tube defect like spina bifida is an example of structural defect obvious at birth while haemophilia is also present at birth, which may become obvious and also can be diagnosed as the child grows older.

Reason behind CD

Most of the congenital disorders are the result of genetic factors,which occur before the time when the baby is even conceived. Single gene defects, chromosomal abnormalities, multifactorial congenital disorders caused by genetic factors interacting with the environment are some of them. There is also a small percentage of congenital disorders that are caused after a mother conceived, by the teratogens such as alcohol, maternal infections and illness or drugs. Some serious congenital disorders also can be life threatening and cause some lifelong physical disabilities such as blindness or deafness along with intellectual disabilities. 

It is not possible to check whether congenital disorders are present or not during the time of pregnancy and one more thing is that the testing is not perfect.

CVS or Chorionic Villus Sampling

CVS or chorionic villus sampling is a test, which is done usually between 10 to 13 weeks of pregnancy. This is done when normal screening tests show that your baby may have congenital disorder. Down syndrome along with other genetic conditions can be diagnosed with the help of CVS. By using a needle a small sample of cells is collected from placenta after local anaesthesia. That sample is then sent for testing.

Amniocentesis

This test is done as an alternative or addition to chorionic villus sampling or CVS after 15 weeks of pregnancy. It has the ability to give a definite answer to the question of whether your baby has down syndrome or any other congenital disorders. In amniocentesis a small amount of fluid is taken from around your baby for the testing. 

There is a very little chance of miscarriage in both the testings. 

Prevention

In case there is any personal or family history of congenital disorder, you can opt for a genetic test before conceiving. While the scenario is like this, meet a genetic counsellor and have a discussion on family history and the likelihood of your baby may having congenital disorder. After that the testing arrangements can be done.

For those parents, who go for IVF or  in-vitro fertilisation, it is possible to test your embryo when it is 4 days old, before it is implanted into the uterus.

There are some things that you can do in order to try to prevent congenital disorder, here are they

• Follow a healthy diet, which includes enough vitamins and minerals, along with folic acids during the reproductive years. 
• Take folic acid tablets for the first trimester of pregnancy and also even before pregnancy.
• Avoid smoking, alcohol and other drugs as they can harm your unborn fetus.
• Control diabetes and also  gestational diabetes.
• Avoid exposure to any kind of environmental chemicals like pesticides or lead. 
• Get vaccination, especially against rubella.