Birth Defects

Things you need to know about Birth defects:

  • Birth defects are abnormalities in the development of a child which are present since birth.
  • They can be obvious (Defect in the face, limbs) or hidden ( Heart defects, kidney defects).
  • Some of these can be harmless and others can seriously affect the quality of the child’s life if not diagnosed and treated in a timely manner.
  • It is recommended that all expectant mothers have screening tests to detect early signs of certain types of birth defects.
  • We would insist this especially on families with a history of birth defects, sudden deaths, or other pre-existing conditions running in the family.
  • Certain other defects (metabolic conditions) are also diagnosed after birth by taking a drop of blood from the baby’s feet in the first week after birth.
  • Most defects by themselves might be harmless, but it can occasionally be associated with other defects. Hence it’s important for a doctor to rule out these associations (if present).


Tests for Birth Defects:

Some birth defects cannot be identified until after the baby is born and some can be detected by tests during pregnancy.


Non-invasive test:
  • Ultrasound test:
  • Expectant mothers generally have ultrasound scans at around 12 weeks (to confirm pregnancy and predict birth date) and 18-20 weeks (Anomaly scan to look for defects in major organs like heart, kidney, limbs) and then follow up scans every month.
  • There are no known risks to the baby or you from an ultrasound scan.
  • If the scan shows a suspicious defect, you may be offered other tests to confirm it.


Invasive test:
  • Chorionic Villus Sampling (13 weeks) / Amniocentesis (15 weeks)
  • It tests a sample from the placenta, (passing a needle through abdomen wall or tube inserted into the vagina).
  • Amniocentesis is a procedure in which a few drops of the Amniotic fluid (Water around the baby) is obtained for testing.
  • It is done to detect chromosomal abnormalities, like Down’s syndrome.
  • Both these are invasive hence there is a very small risk for complications like spontaneous delivery or infections.


Should I get an X-Ray?
the doctor specifically).


  • X-Rays during pregnancy can prove to be harmful to you and your baby.
  • At birth, a paediatrician will examine at the baby ( before 24 hours of life) for obvious defects of Heart/ Eyes/ Limbs/ Movements/ Reflexes.
  • Make sure you have the findings documented

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