“Congenital Disorder-A Birth Defect.”

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Approximately 3 to 4% of all live births are affected by a congenital disorder; causes of most of them are unknown. Some congenital disorders are considered to be physical while others are thought of as functional.

Sadaf Khan

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Usually babies are born healthy, but whenever a baby has a condition right from birth, it’s called congenital disorder. These deformities can be inherited or caused by environmental factors.

Child with a congenital disorder may also experience a disability or health issues throughout life. According to studies the birth defects are the leading cause of infant mortality, causing 22% of all infant deaths.

Approximately 3 to 4% of all live births are affected by a congenital disorder; causes of most of them are unknown. Some congenital disorders are considered to be physical while others are thought of as functional.

Physical birth defects results in malformation of a physical organ or limbs while functional birth defects include mental retardation, early onset vision impairment, congenital hearing loss and so on.

There are several causes of birth defects including single gene mutations, chromosomal abnormalities, polygenic conditions, and teratogens, which cause growth or developmental abnormalities.

Genes play an important role in many congenital disorders. This might be through inherited genes that code for anomaly, or resulting from sudden changes in genes known as mutations.

Birth defects can also result from physical conditions affecting the health of mother. One common maternal condition associated with birth defects is diabetes mellitus. Mothers with diabetes have greater risk of having a child with birth defects than the general population if their condition is not well controlled. However, good glucose control has been shown to correlate with a decreased risk of congenital malformations.

 About 7% of all congenital deformities are caused by exposure to teratogens. Environmental chemicals, infections, exposure of mother to high levels of radiation can also lead to birth defects.

According to World Health Organization (WHO), it is estimated that 303000 newborns die within 4 weeks of birth every year, worldwide, due to congenital deformities. The most common, severe congenital disorders include neural tube defects, heart defects, and down syndrome.

Testing for congenital disorders can be performed from 10 week of pregnancy. Diagnostic tests, such as ultrasound scans, blood tests, and urine tests are ways to identify babies who do have a congenital deformity. However, it is not possible to test for all congenital disorders.

Chorionic Villus Sampling (CVS), is performed between 10 to 14 weeks of pregnancy.

CVS can be used to diagnose babies with down syndrome or other genetic conditions. Amniocentesis is another way of diagnosis. It is done after 15 weeks of pregnancy.

If there is a family history of birth defects or if the mother is over 35 yrs old, genetic tests can be done before pregnancy.

Eating healthy diet with enough vitamins and minerals, taking folic acid tablets, controlling diabetes and gestational diabetes, avoiding alcohol, smoking and other drugs, being vaccinated, avoiding exposure to environmental chemicals can prevent congenital deformities.

 

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