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17 Cards in this Set
- Front
- Back
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what percentage of total cardiac output passes through the placenta?
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40%
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what is aneuploidy?
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an abnormal number of copies of a genomic region
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what percentage of Down syndrome is due to trisomy 21?
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95%
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which translocations are associated with down syndrome?
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t14:21, t21:21, t21;22
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what percentage of errors in meiosis leading to trisomy 21 occur during spermatogenesis?
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5%
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what is the most common kind of chromosome rearrangement in humans?
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robertsonian translocation
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which are the acrocentric chromosomes?
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13, 14, 15, 21, 22
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when is nuchal translucency performed?
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11-13 weeks gestation
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what percentage of down syndrome is due to mosaicism?
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2.5%
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what is the incidence of down syndrome at maternal age of 40?
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1 in 100
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what is the incidence of down syndrome for maternal age 29?
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1 in 1000
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what percentage of down syndrome is due to unbalanced robertsonian translocation?
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2.5%
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what is the recurrence risk for parents with one affected child?
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1%
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what causes cyanosis?
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higher than normal concentration of deoxyHb in the tissue capillaries
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when is the largest drop in pulmonary vascular resistance in the newborn baby?
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in the first 24-48 hours
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in the fpetal circulation, how much of the blood returning to the right atrium crosses through the foramen ovale?
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about half
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what type of shunt will produce cyanosis?
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right-to-left
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