Every year March 3 is marked as World Birth Defect day to increase awareness about birth defects in general public. Birth defects are not uncommon; 3-6 percent babies born (roughly around 8 million per year) have some birth defects.
Birth defects are structural changes present at birth that can affect almost any part or parts of the body (e.g., heart, brain, foot) and can be found before birth, at birth, or any time after birth but usually in the first year of life. They can be mild to severe and can affect how the body looks, works or both and depending on the organ involved and the severity of the defect, determines its effect on lifespan or quality of life.
Some common birth defects are brain and spine defects, congenital heart diseases, cleft lip / palate, club foot and skull shape abnormalities.
Causes
Although birth defects can occur at any stage of pregnancy, most birth defects occur in the first 3 months of pregnancy, when the organs of the baby are forming. For most birth defects, causes are either not known or thought to be result of many factors like genetic vulnerability, our behavior and environment.
Certain conditions like Fetal alcohol syndrome (consumption of alcohol during pregnancy), Spine defects (Folic acid deficiency in mother), congenital rubella syndrome (transmission of rubella from mother in utero) have known causes.
Some factors which increase the risk of birth defect in mother are
• Smoking, drinking alcohol, or taking drugs during pregnancy.
• Conditions like severe obesity, uncontrolled diabetes
• Having certain infections during pregnancy such as TORCH (Toxoplasma, Other like syphilis, Rubella, CMV, Herpes) and Zika virus
• Older age of mother (increases the risk of chromosomal mutations)
• History of certain Birth defects in blood relatives
• Fever >101F or exposure to high temperatures
Risk reduction
While its not possible to prevent all birth defects, but one can reduce the risk by following certain healthy practices
• Protection from Rubella by 2 doses of Rubella containing vaccines and vaccination for other vaccine-preventable diseases
• Start Folic acid 500 microgram daily at least 1 month before conceiving and continue throughout pregnancy to prevent Neural tube defects (Brain and spine deformity)
• Complete abstinence from smoking and alcohol
• Regular preconception and antenatal checkups and anomaly scan during pregnancy
• Advances in fetal medicine has increased detection and even in utero treatment of many birth defects
• Prompt treatment of all febrile illnesses in pregnancy by qualified physicians
• Talk to a healthcare provider before taking any medications about its use in pregnancy
• Choose a healthy lifestyle
• Obesity, uncontrolled diabetes should be optimally treated before getting pregnant.
Living with a birth defect
Doctors and researchers are continually working to discover new treatments to improve the survival and health of babies with birth defects. Many kids with birth defects lead happy and long lives, but birth defects remain critical conditions that can cause lifelong challenges. Birth defects are a leading cause of infant mortality in developed countries and important cause in India.
Detecting birth defects as early as possible for example - during pregnancy by anomaly scan and tests like triple test and after birth with critical congenital heart disease screening test help in proper planning of treatment at appropriate time.
The children and their families need a great deal of support to overcome the challenges thrown by these conditions
(Dr. Chetan R Mundada is Senior consultant pediatrician and Lead Pediatric Intensivist, Yashoda Hospitals, Hyderabad)
