Congenital Diseases: Be Aware

Congenital diseases means the conditions present since birth in children. Some of these condition may be detected during pregnancy, but some others become evident only after birth. Common congenital diseases include neural tube defects, congenital heart disease, malformations of ano-genital tract and malformation of lungs.
Some of these have genetic cause, and therefore may not be prevented, but certainly some others can be prevented with a degree of awareness and appropriate care.
Among the preventable, the most common are the neural tube defects. Neural tube defects may present with malformation of brain and spinal cord. If the child survives, she may need multiple operative procedures with many complications. Simply taking folic acid tablets 400  mcg around 3 months before conception significantly reduces the risk. This shows the importance of disease awareness and timely action.
Congenital heart defects may be associated with have some genetic factors, which are beyond the scope of discussion on this platform. But parents can have a genetic counselling with karyotyping done for knowing the risk rate. Folic acid 400 mcg in the first trimester may be beneficial in prevention of congenital heart defects, which again underlines the importance of awareness.
Overall, there are some DO’s and DON’Ts during pregnancy which, if followed, can go a long way in preventing some major problems. Let us have a quick look at some of them:
1. Get your pregnancy confirmed radiologically to rule out ectopic at your first visit at 8-10 weeks
2. Get a regular follow up with your doctor with minimum 4 antenatal visits.
3. Take folic acid 3 months before conception, after medical prescription.
4. Take iron regularly after first trimester
5. If possible get a anamoly scan done by ab experiened radiologist at 18weeks
6. Act accordingly if any problem in the scan.
7. Go for genetic counselling if history of congenital diseases in family
8. Report any discomfort like fever to your doctor.
9. If you are on any medication let your doctor know before you conceive.
1. Do not take any over the counter medications without consultation including herbal medications, especially in first trimester
2. Don’t conceal any information regarding your obstetric history, genetic condition or medication history so that your doctor may help you out.
3. Don’t overexpose yourself to multiple X-ray or CAT scan settings.
4. Don’t panic if a congenital condition detected that demands action, and lend your patient ear to the advise of your doctor.
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