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You are here : home > Birth Defects and Hereditary Diseases > Types of Birth Disorders > Congenital and Genetic Birth Disorders: Causes, Testing and Treatments

Congenital and Genetic Birth Disorders: Causes, Testing and Treatments


Read on to learn about the congenital and genetic birth disorders in babies and ways to deal with such disorders.
Congenital birth disorders are the disorders that are caused in a baby during pregnancy or during the process of childbirth; in a few cases, they may develop during the first month after birth. Depending on the nature of the abnormality, these birth defects may affect the structure or functions of a particular part of the baby’s body and sometimes, also the metabolism in the baby.

Causes of Congenital Birth Disorders

Congenital birth disorders are often observed to run in families. However, no one can predict which baby will develop a birth defect and sometimes, even a perfectly healthy couple with no family history of such defects may give birth to a child with some abnormality. In general, a few factors have been identified as the possible cause of congenital birth disorders.

Genetic Faults

Quite a few congenital abnormalities are a result of some problem with a single gene or a set of genes. In certain cases, the information in a gene is altered; in others, a gene may be completely missing.

Harmful Chemicals

Substances such as nicotine which is found in tobacco, alcohol and certain prescription drugs have been linked to a high risk of congenital disorders. When a pregnant woman consumes these substances, she is more likely to give birth to a baby with a birth defect.

Maternal Illness

Certain infectious diseases in the pregnant woman can cause severe damage to the unborn baby. For example, if a pregnant woman suffers from German measles, the baby is very likely to be born with congenital hearing loss or cataract of the eye.

Insufficient Maternal Nutrition

A mother who does not get the necessary quantities of nutrients through a balanced diet is more likely to give birth to a baby with congenital disorders. Folic acid in particular is a vitamin that is very important for the normal development of the baby and its deficiency has been known to cause functional birth defects and neural tube defects.

Exposure to Harmful Radiation

Exposure to certain radiations such as X-rays can cause damage of the genes in the growing baby. This is more likely to happen during the first three months of pregnancy.

Testing of Congenital Birth Disorders

Prenatal tests are a vital tool in diagnosing birth defects early on; such testing enables doctors to be well-prepared to handle complications that may develop during pregnancy or childbirth. However, some of these tests may pose a hazard to the baby and therefore, are not carried out unless the doctor feels it is very necessary. Women who have previously delivered a baby with a birth defect, those with a family history of such defects, women who have had frequent miscarriages and those aged above 35 years at the time of conception are generally advised to undergo one of the following tests to diagnose congenital birth disorders.

Blood Tests –

to test levels of certain proteins and hormones that indicate how well the pregnant woman’s body systems are functioning.

Ultrasound –

a method that uses sound waves to scan the image of the baby growing within the mother’s womb.

Amniocentesis –

an invasive method in which a sample of the amniotic fluid surrounding the baby is taken by passing a needle through the mother’s abdomen.

Percutaneous Umbilical Blood Sampling –

an invasive method in which a sample of the baby’s blood is taken from the umbilical cord that connects the baby to the mother.

Chorionic Villus Test –

a needle and catheter are used to draw a sample of placenta from the mother’s cervix and this is tested.

Treatment of Congenital Birth Disorders

With an improvement in medical technology, it has become possible to diagnose some congenital disorders when the baby is still in the mother’s womb. Unfortunately, researchers have not yet discovered any method of completely curing these defects.
Certain conditions such as the heart defects observed in a baby with Down's syndrome can be corrected by surgery but the other symptoms will persist. Similarly, surgery when the baby is still in the womb is possible for Spina Bifida but it may not always yield the desired results and the baby may still suffer from some level of defect.
Conditions such as Lysosomal Storage Diseases and Muscular Dystrophy have no cure; treatment involves dealing with the presenting symptoms using medication and physical therapy as necessary.
What this discussion clearly indicates is that there is no saying which baby will develop a congenital birth disorder. However, it is important a pregnant woman takes necessary care to avoid the factors that are more likely to cause birth defects. By ensuring good health of the mother during pregnancy, it is possible to increase the chances of giving birth to a healthy baby.

What are congenital and genetic birth disorders? What are the causes of congenital and genetic birth disorders? In what ways are the congenital and genetic birth disorder are treated? Discuss here.



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