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Pregnancy Topics..

You are here : home > Pregnancy > The Normal Pregnancy > Congenital Diseases

Congenital Diseases

One of the biggest concerns of most of the pregnant mothers is to prevent congenial and chromosomal diseases in their babies. Find out how congenial and chromosomal abnormalities are detected and how to prevent them.

When should I be worried about congenital diseases?

Your baby has a higher chance of having congenital disease if he falls in any of the three reasons given below.  Note that there could be many other reasons for congenital diseases also.
  • Congenital diseases in the previous baby
  • History of congenital anomalies in the family which are likely to be repeated
  • Maternal age is above 35, then there is a higher chance of the baby getting Down's syndrome

How are abnormalities in the baby detected?

Down's syndrome (more common in women over 35) and many other genetic disorders can be diagnosed by performing in-utero test.  The doctor will generally ask for an alphafeto-protein (AFP) test before asking the mother to undergo amniocentesis.  Once deformities in the baby have been diagnosed, the difficult decision of whether to keep the baby or terminate the pregnancy has to be made.

Can birth defects be detected with regular blood tests?

Studies have shown that 90 % of birth defects cannot be detected through prenatal blood tests. In order to isolate the remaining 10 % of the identifiable birth defects, there are four main types of tests: amniocentesis, chorionic villi sampling, certain blood tests, like the Alphafeto-Protein (AFP) test, and ultrasound scans.

What tests can detect congenital diseases? (Dr. Mansukhani)

Triple test - Serum AFP, Serum Estriol, Beta hCG - in the first trimester

Ultrasonography in the first trimester (around 10-12 weeks) to look for any translucency in the neck region

Amniocentesis to get a complete genetic makeup of the baby

What are the types of chromosomal abnormalities?

Chromosomes carry genetic structures from one generation to another. While 23 come from the father, another 23 comes from the mother. The genetic factors determine how your baby shall grow, the way she shall look and also the way she shall function (to some extent).

In case baby is not born with all the 46 chromosomes or when some of them are duplicated or missing, she shall not behave the way others of her age behave and is also at risk of developing the Down’s syndrome. Here we shall take a closer look at the different abnormalities:

Single-Gene Abnormalities

Even though your baby may be born with all the genes, one of them may be abnormal.

Autosomal Dominant Inheritance

Autosomal dominant inheritance refers to abnormality of a gene that gets passed to the child from one of the parents with the same abnormality.

Autosomal Recessive Inheritance

Autosomal recessive inheritance also refers to another abnormality of the genes that gets passed on when both the parents carry defective genes. Mostly the parents are normal, however; one in every 4 children may be affected.

X-Linked Conditions

X-linked conditions refer to genetic abnormalities that are common among males. Females are known to carry abnormal genes that results in X-related recessive disorders. However, it may not be visible in the disease.

X-linked dominant conditions

 X-linked dominant conditions are usual in females as well as the males. They tend to be more sensitive among the males. This results in neurological conditions such a skin disorders, brain disorder, craniofacial disorders or skeletal problems.

Conditions in pregnancy affecting the baby

Here you should be aware of the conditions that affect your baby.
  • Some kinds of illnesses such as rubella, cytomegalovirus and chicken pox tends to result in serious congenital abnormalities.
  • Hypertension, diabetes, graves disease, myasthenia gravis and lupus are some serious maternal conditions that might affect the developing foetus.
  • Hypertension can have negative effect on the blood flow to the baby that can impair normal growth and development of the growing child.
  • Eating uncooked or raw foods can have serious implications on the child as well as the mother. It is thus very important that you take foods cooked well.
  • Effects of certain medication can have serious implications.
  • Chemicals polluting air, water or food can also cause permanent damage to your baby.
Thus, it is essential to follow suggestions and prescription of your doctor, before trying the over-the-counter solutions as self medication can prove very harmful during pregnancy.

Environmental and genetic factors combined

Congenital abnormalities become a possibility if the genetic factors are combined with the environmental issues in critical stages of pregnancy.

The chances of neutral tube defects can be reduced to a considerable extent when you take folic acid supplements before and in course of pregnancy.

Unknown causes

Most of the causes behind congenial abnormalities are unknown. This holds true for those who want to have more than a single child. In these cases, there is very little one can do to predict how and when the problem may surface again.

You can look forward to genetic counselling services available to know about the different kinds of genetic abnormalities. Your obstetrician shall help you with the right course of action, so that you can avert most of the dangers.Thanks to the advancement of medical sciences that has made it possible to detect genetic and chromosomal related abnormalities in the earlier stages.

What are the different types of congenial disease? How to prevent congenial diseases in babies? When should pregnant mothers undergo screening for congenial diseases? Discuss here.

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Annu.8 years ago
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