Congenital heart defects are the number one cause of birth-defect related deaths. “I was born with a heart defect known as Tetralogy of Fallot. My parents were told that I would not survive even a year. I had to get corrective surgery. The medical care I received was advanced and I was lucky. I was doing well until we discovered that my heart rate was dangerously low. That’s when in got my first pacemaker. Again, because of new developments in medical care, I was lucky. Advances in pacemaker technology have continually improved my quality of life. Today, I am 58 years old and have an implanted device that helps treat irregular heartbeats.”
A man born with a defect at birth sharing his story and the importance of continued medical care.
What is a Birth Defect?
It is defined as a problem that occurs when a baby is developing in the mother’s womb. Problems like defective appearance, abnormal body functions, disturbed metabolism, mental or physical disability can occur.
Common Birth Defects
Birth defects are costly and critical. Some common birth defects are enlisted below:
Congenital heart defects (Tetralogy of Fallot, Truncus Arteriosus)
Central nervous system defects (Anencephaly, Spina Bifida)
Some of the following are risk factors for birth defects in Pakistan:
Cousin marriages is the number one risk factor
Family history of birth defects
Drug use, alcohol consumption and smoking during pregnancy
Maternal age more than 35 years
Inadequate prenatal care
Untreated bacterial, viral and sexually transmitted infections
Use of certain high risk medicines (Lithium for e.g.)
Preexisting diseases like diabetes, hypertension
Frequency of Birth Defects in Pakistan
There is an alarming rise in genetic diseases in Pakistan. According to statistics in Pakistan, the estimated population with genetic disorders is about 29.2 million. Around 700 children are born with genetic problems as a result of cousin marriage every year.
It is estimated that 1.6 per 1000 are impaired with bilateral hearing loss in Pakistan amongst which 70 per cent of hearing loss tends to appear in consanguineous families.
How to Diagnose?
Majority of the birth defects can be diagnosed during pregnancy with the help of invasive and non-invasive tests. Invasive tests include amniocentesis and Chorionic Villus Sampling (CVS) and the non-invasive test is the famous ultrasound.
A physical examination and hearing test may also help the doctor diagnose birth defects after the baby is born. A blood test helps doctors diagnose some birth defects shortly after birth.
Prevention is Better than Cure
Chances of having a healthy baby can be increased by managing health conditions. Committing to healthy practices before and during pregnancy is preventive. Preventive measures are as follows:
Plan ahead – Prophylactic folic acid consumption daily
Avoid harmful substances like drugs, alcohol and cigarettes at the time of pregnancy
Prevent or treat infections
Strive to maintain a healthy weight
Keep sugar under control
Talk to health care provider about taking any medicine during pregnancy and about vaccination/shot