Cytogenetics y Genetic Screening
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| show | maternal age 35 or greater >> increased risk for Down’s syndrome and other non-disjunctions
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| What are major indicators that their is an elevated risk of birth defect? | show 🗑
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| show | examination of maternal serum or ultrasound
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| show | amniocentesis, chorionic villus sampling , and percutaneous umbilical cord blood sampling
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| What is amniocentesis? | show 🗑
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| When can an amniocentesis be performed? | show 🗑
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| What types of cells would you find in amniotic fluid? | show 🗑
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| show | The cells (skin and lung) are isolated and cultured. The amniotic fluid itself is sometimes analyzed – ex. high levels of alpha–fetoprotein indicative of neural tube defects and other disorders
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| show | 1. cells from a chorionic villus sampling are already readily dividing so a karyotype can be done quickly without a culture (2) A chorionic villus sample can be taken earlier (10-12 weeks) than amniocentesis (16 weeks)
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| show | biopsy needle can be inserted through either the abdominal wall or through vagina to obtain sample of chorionic villus
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| show | amniocentesis (lowest risk), chorionic villus, and percutaneous umbilical cord blood sampling (highest risk)
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| show | By week 20
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| show | It is rarely done solely for karyotyping purposes, though it gives access to white blood cells, the cell typically karyotype
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| show | genetic screening is a population based method for identifying persons with certain genotypes known to be associated with a genetic disease or predisposition to a genetic disease. It differs from genetic testing due to size of pop. testing < screening
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| show | phenylketouria (all 50 states), galactosemia, congenital hypothyroidism (non-genetic) and sickle cell
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| What is the disease criteria for a screening program? | show 🗑
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| show | 1. non-invasive and easily carried out 2. accurate and reliable 3. inexpensive
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| show | 1. widespread and equitable availability 2. Voluntary participation 3. acceptable to the target population 4. full information and counselling provided
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| What is the only major proposal for adult genetic screening? | show 🗑
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| What is heterozygote screening? | show 🗑
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| show | Tay Sachs disease among Jews of eastern European descent. (incidence lowered from 85% to 65% as a result) Beta–thalassemia in Cyprus (successful reduction of incidence) sickle cell in African Americans (no decrease in incidence)
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| What is typically tested for in a prenatal screening | show 🗑
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