Congenital abnormalities are caused by problems that occur during fetal development before the baby is born. It is essential  for parents  to have  good medical care before and during pregnancy to prevent these abnormalities . Advances in perinatal testing and new diagnostic tests have made it possible for the early detection of chromosomal and genetic related causes of these congenital abnormalities.

 

congenital abnormalities

 

5 categories of congenital abnormalities

 
Chromosomal abnormalities : Chromosomes carries genetic material inherited from one generation to the other. You inherit 23 from your father and 23 from  your mother. The genes on the chromosomes determines certain characteristics of a baby such as how he will grow and who he will look like. If you don’t have all 46 chromosomes or pieces are missing or duplicated, the baby may develop health problems such as Down syndrome.

 

Single gene abnormalities : Sometimes the chromosomes have a normal number but one or more genes on them may be abnormal.

  • autosomal dominant inheritance occur when one of the parents have an abnormality
  • autosomal recessive inheritance  can only occur if both parents have the same defective gene e.g. cystic fibrosis
  • x-linked conditions mainly  occur in males. Females may carry the defective gene but may not show symptoms. An example is hemophilia
  • x linked dominant conditions  can occur in both males and females but it is more severe  in males e.g. certain neurological disorders that affect the brain

 
Conditions during pregnancy that affect the baby : These include the following :

  • certain illness such as chickenpox especially during the first nine weeks can cause serious congenital abnormalities
  • consuming alcohol and taking certain medications can increase your risk of having a baby with abnormalities. e.g. fetal alcohol spectrum disorders
  • chronic maternal conditions such as diabetes and high blood pressure  can have a negative effect of fetal development. Maternal high blood pressure can affect blood flow and impair growth  of the fetus
  • eating raw and uncooked food during pregnancy should be avoided because it can be dangerous to the mother and baby
  • certain medications  can cause permanent damage to the fetus when taken during pregnancy. Always check with your doctor before taking any medication during pregnancy

 
Combination of environmental and genetic problems : Some congenital problems may occur  if there  is a genetic tendency for the condition combined with exposure to certain environmental influences within the womb during critical stages of the pregnancy. e.g. spina bifida.

 

Taking folate before and during pregnancy reduces your risk of neural tube defects.

 

Unknown causes  : The majority of congenital abnomalities have no known causes.

 

NOTE

If your family has a history of any genetic disorder, it s essential to see a genetic counsellor. He will be able to advise you on what to do.

 

Content Sources
Congenital abnormalities. American Academy of Pediatrics. https://www.healthychildren.org/English/health-issues/conditions/developmental-disabilities/Pages/Congenital-Abnormalities.aspx. Accessed October 4, 2015
 
Birth Defects and Congenital Anomalies in Children. Boston Children’s Hospital . http://www.childrenshospital.org/conditions-and-treatments/conditions/birth-defects-and-congenital-anomalies. Accessed October 4, 2015
 
Congenital abnormalities. World Health Organization. http://www.who.int/mediacentre/factsheets/fs370/en/. Accessed October 4, 2015
 

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