Congenital Defects 0.0 / 5 ? Health & Social CareUnderstanding human behaviour and developmentA2/A-levelOther Created by: MackenzieDeardenCreated on: 26-04-18 18:09 What are genetic or inherited causes? Down's syndrome and sex hormone abnormalities 1 of 11 What is a single gene defect? A mutation in one gene that causes a defect 2 of 11 What is dominant inheritance? When one person passes on a faulty gene such as achondroplasia and marfam syndrome 3 of 11 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 4 of 11 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 5 of 11 What is an agent that can cause a birth defect? A teratogen 6 of 11 What are multifactorial birth defects caused by? A combination of genes and environmental exposures e.g. cleft lip or heart defects 7 of 11 How can you lower the chances of having a child with a birth defect? Not smoking, eating healthy, weight, not doing drugs, avoiding violence 8 of 11 What do the diagnostic examinations include? Ultrasound scans, amniocentesis, chronic villus sampling (CVS) 9 of 11 What do preconception examinations include? Checking family medical history, genetic testing, vaccination statusing, infection screening 10 of 11 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 11 of 11
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