Congenital Defects

What are genetic or inherited causes?
Down's syndrome and sex hormone abnormalities
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What is a single gene defect?
A mutation in one gene that causes a defect
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What is dominant inheritance?
When one person passes on a faulty gene such as achondroplasia and marfam syndrome
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What is recessive inheritance?
When both parents who don't have the disease pass on the gene for the disease to the child, such as cystic fibrosis and Tay sachs
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What are the environmental causes?
Drug/alcohol use or a disease that the mother has, which can increase the chance for a baby to be born with a birth defect
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What is an agent that can cause a birth defect?
A teratogen
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What are multifactorial birth defects caused by?
A combination of genes and environmental exposures e.g. cleft lip or heart defects
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How can you lower the chances of having a child with a birth defect?
Not smoking, eating healthy, weight, not doing drugs, avoiding violence
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What do the diagnostic examinations include?
Ultrasound scans, amniocentesis, chronic villus sampling (CVS)
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What do preconception examinations include?
Checking family medical history, genetic testing, vaccination statusing, infection screening
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What are the treatment options for children with birth defects?
Gene therapy- replaces the faulty gene, enzyme replacement therapy- replaces the enzyme that's not producing, prenatal treatment-prenatal surgery
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Other cards in this set

Card 2

Front

What is a single gene defect?

Back

A mutation in one gene that causes a defect

Card 3

Front

What is dominant inheritance?

Back

Preview of the front of card 3

Card 4

Front

What is recessive inheritance?

Back

Preview of the front of card 4

Card 5

Front

What are the environmental causes?

Back

Preview of the front of card 5
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