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CONGENITAL ANOMALIES- WHAT, WHY AND WHAT CAN BE DONE? (December, 2002)

The birth of a healthy child is the dream of every couple and every family. And nature has evolved a fairly efficient system to achieve this in most instances. However, nothing is perfect and every so often children are born who have some birth defects (congenital anomalies). This term congenital anomaly covers a very wide range of problems – some are merely cosmetic with no functional consequences while others are seriously debilitating and life threatening.

The birth of a child with a congenital anomaly has various ramifications:

1) It is a major shock to the couple and the family. They often blame themselves for the problems
2) Large resources are required in managing these children and as our Country does not have a social security net, the burden lies entirely on the family. This often deprives the other healthy siblings of resources.
3) For the community too, large amounts of funds are required in caring for these children

As a result of all these, it is important to know more about why these anomalies occur and what can be done to prevent them.


 

Baby with Spine and spinal cord deformity

What are congenital anomalies?
Congenital anomalies are defects that occur during the development of the baby (during the time it is in the mother’s womb). The normal development of the baby ensures normal formation and maturation of all body parts and organs. When this process is interrupted/ altered in any way, congenital anomalies result. Also, since the baby is rapidly developing, defects early in development can result in anomalies in more than one organ or part- these are called syndromes or associations.

What causes congenital anomalies?
This is a million-dollar question with no definite answer. Unfortunately, we still do not know exactly. However, there are some situations that increase the risk of babies with congenital anomalies. These include:

1. Racial factors: some congenital anomalies are more common in certain races. For example, the disease cystic fibrosis is very common in the white population (Caucasians).

2. Genetic factors: Certain anomalies are related to specific genes.

3. Hereditary factors: For example some anomalies run in families and future siblings will have a higher chance of having the same problem

4.Socioeconomic factors: Some anomalies are seen more in the socio-economically backward societies. For example, the incidence of spinal defects are much higher in poorer countries. With socio-economic improvement the incidence of this has gradually reduced in the West.

5. Sex of the child: Some defects are commoner in boys and a few others in girls. However, there is evidence to suggest that the girl is the more strong of the two and do better than boys with the same problems.

6. Infections: Some specific infections in the mother during pregnancy increases the chances of developing anomalies

7. Drugs: Certain medication when taken in the first trimester (the first 3 months, when all the formation of organs is taking place) can result in anomalies. The classical example of this is phocomelia (absent limbs) with thalidomide.

8. Radiation: Exposure to radiation can cause serious malformation in the baby. This may be from x-rays or from exposure as in Hiroshima and Nagasaki during the 2nd world war.

Often there is a combination of these risk factors. And barring a few exceptions there is no definite cause-effect relationship of these risk factors to most commonly seen congenital anomalies. As is obvious from the list, very few are easily modifiable by a given person or couple.

Baby with Cleft Lip & Palate Deformity on both sides

 

 

What are the different types of congenital anomalies?
Congenital anomalies can occur either singly (where it can effect almost any organ or part) or in combinations (syndromes, associations). They can be minor or major and life threatening/debilitating. Some of the common ones seen are:

1. Minor: These can be treated later on , after the child is thriving polydactyly( extra fingers), syndactyly(joined fingers) ear lobe anomalies(absent ear/ear tags) cleft lip, hypospadias(penis anomalies) club foot

2. Major: These often require treatment in the newborn period or early infancy cleft palate heart defects, intestinal defects, spinal defects kidney , bladder and other urinary problems

3. Life threatening: These are serious and life threatening and require treatment soon after birth serious heart anomalies, diaphragmatic hernia, malformation of food pipe(esophageal atresia), lung problems. These can also occur in combinations as mentioned. By far the common ones are spine and nervous system problems, cardiac problems, kidney problems.

In may instances where there are serious congenital anomalies and life-threatening combinations of these, pregnancy does not progress and early (first trimester-first 3 months) abortions result.

So, how can we prevent the occurrence of congenital anomalies?

Unfortunately, as we do not know the exact cause of these anomalies, it is impossible to prevent them. However, we can reduce the chances of their occurrence by various measures. Also, we can look for and detect various types of congenital anomalies during early pregnancy itself.

Dr. R Sanjay Rao,MBBS,MS,DNB,MCH(Paediatric Surg.),

Consultant Paediatric Surgeon, Bangalore.
E-mail: sanjayrao98@hotmail.com

 

Updated on 01.12.2002.
 

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