Birth Defects – Being Differently Able

Written by Pliro
Feb 5, 2018 Last updated: Feb 5, 2018

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)
  • Musculoskeletal defects (Diaphragmatic hernia, Omphalocele)
  • Orofacial defects (Cleft lip, Cleft palate)
  • Gastrointestinal defects (Esophageal atresia, Rectal stenosis)
  • Eye defects (Anophthalmia/Microphthalmia)
  • Chromosomal anomalies (Down syndrome, Turner syndrome)

Risk Factors In Pakistan

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