Congenital Abnormalities

Consult for Congenital Abnormalities- End-of-life Care

Consult for Congenital Abnormalities- End-of-life Care

 Regular tests during pregnancy to scan for congenital abnormalities can give a new lease of life to the babies

It is a moment of joy for the couple and the family when the news of a pregnancy is confirmed. And then begins a whole cycle of mixed opinions and advices from friends and relatives that can leave the mother to be rather confused!

It is of prime importance for the pregnant lady to go in for regular check ups and scans to ensure that the baby is not predisposed to any congenital abnormalities. The chances of developing any abnormalities become high if either parent or some family member is suffering from a certain health issue.


According to a success story on prenatal testing shared on , Candice * was happy when she got pregnant but had no clue that her grandmother had a baby with downs syndrome at the age of 42. The baby did not live long. Candice’s first child was born normal but at the time second pregnancy, she managed to conceive only after repeated miscarriages. Her pregnancy was closely monitored by doctors and for a while they thought things were going well. Her doctors made her do a blood test at 10 weeks to check for chromosomal disorders. Right enough the tests revealed the baby had downs syndrome. At 12 and a half weeks she terminated the pregnancy. She has been one of the lucky few moms who did not end up having a baby with downs syndrome and then losing it early. Birth defects are becoming increasingly common but the good news is that tests and scans help to detect these in early pregnancy and help prevent birth of such babies.

A birth defect or congenital abnormality is defined by March of Dimes as, “functional or structural- that presents in infancy or later in life and is caused by events preceding birth, whether inherited or acquired.” In India a large number of birth defects are seen due to various reasons like universality of marriage, consanguineous marriages, many unplanned pregnancies, high fertility and poor antenatal care.

Types of birth defects:

  • Structural defects are physical defects with body parts such as cleft lips, cleft palates, club foot, missing valves or neural tube defects.
  • Function defects include defects in the functioning of the body parts like developmental disabilities, metabolic disorders or degenerative

Reasons for birth defects:

According to John Cunha, birth defects occur either due to genetic factors, environmental factors or problems with chromosomes and are the leading cause of death of infants in the first year.

  • According to the better health channel some of the common causes of birth defects include-
  • Genetic disorders acquired from either parent
  • Maternal illness during pregnancy- example German measles
  • Intake of alcohol or illegal drugs sold over the counter
  • Incompatibility of mother’s blood with baby’s blood
  • Radiation exposure
  • Some birth defects occur due to unknown causes


There are two types of tests used to identify birth defects in pregnancy- screening tests and diagnostic tests. Screening tests help to show the chance of your baby having a birth defect and diagnostic tests help to confirm these birth defects. According to Webmd the list of screening tests are-

screening tests When they are usually done
First-trimester screening (first part of integrated screening) 10 to 13 weeks
Nuchal translucency (usually done as part of the first-trimester screening) 11 to 14 weeks
Cell free fetal DNA (an option for women at higher risk) 10 weeks or later
Triple or quad screening (second part of integrated screening) 15 to 20 weeks
Ultrasound (pictures of baby’s body) 18 to 20 weeks


Diagnostic tests When they are usually done
Chorionic villus sampling (CVS) 10 to 12 weeks
Amniocentesis 15 to 20 weeks



The different types of birth defects that are commonly seen include-

  • Congenital heart defects which occur in 1 out of every 110 births. The symptoms of these defects include rapid heart beat, breathing difficulties, pale skin, swelling in the limbs and feeding problems. Surgery, mechanical aids like pace makers and drugs help to rectify such birth defects.
  • Club foot affects 1 in 400 babies and if diagnosed in initial stages it is treated by just trying to put the foot in place, but in later stages braces and casts or in some cases surgery is used to treat it.
  • Cleft lips and palates are a very common defect and should be surgically corrected 3 months after the birth of the baby.
  • Congenital scoliosis: The term “congenital scoliosis” refers to a spinal deformity caused by vertebrae that are not properly formed. This occurs very early in development–in the first six weeks of embryonic formation
  • Spina bifida or malformation of a neural tube is another common defect and could be harmless or can cause severe problems like bowel control issues and paralysis. Treatment is according to the severity of the problem.
  • Missing limbs, sickle cell diseases, metabolic disorders like phenylketonuria (PKU), downs syndrome, Fragile X syndrome a chromosomal disorder are the other birth defects which are commonly seen in pregnancies and in babies.


Prevention they say is always better than cure and if taking certain small steps can help you have a smooth pregnancy and give birth to a healthy baby then these little steps are definitely worth taking.

  • Increase intake of folic acid as it helps to reduce the risk of the baby getting neural tube defects.
  • Avoid alcohol, drugs and smoking
  • Plan your pregnancy well
  • Prevent infections and take all required vaccinations as infections from a mother can prove to be fatal for the baby
  • Control chronic conditions like diabetes, epilepsy, high blood pressure etc by consulting your doctor both before planning the pregnancy and during the pregnancy.
  • Eat right and maintain a healthy weight
  • Learn about genetics and ensure there are no genetic issues in either parent.
  • See a doctor regularly

If you still require more help, portals like can be like a guide to you both while you plan your pregnancy and all through your pregnancy to ensure that you give birth to a healthy baby.


Your doctor has just given you the most dismal diagnosis that your baby has a birth defect. You are still in the early stages of your pregnancy and wondering if you should continue with your pregnancy, how will the future of your baby be? You certainly need a Second Opinion and this is the time when GrandOpinion can make a difference to your life. We believe in helping with not just treatment but also with prevention.

GrandOpinion can help with

  • Planning your pregnancy in such a way that you can prevent any birth defects from
  • If a birth defect is seen in early pregnancy, guide you on whether to continue with the pregnancy or not
  • If a baby is born with a birth defect then put you on to the best line of treatment to ensure a normal future for the

A doctor and guide like no other, GrandOpinion can indeed help you at every step of your pregnancy and help bring a healthy baby into this world.


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