Term
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Definition
| done to identify risk of a disorder in foetus |
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Term
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Definition
| technique used in dating scan and anomaly scan |
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Term
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Definition
| determines stage of pregnancy and due date – done between 8-14 weeks of pregnancy |
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Term
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Definition
| can detect serious physical abnormalities in the foetus – done between 18-20 weeks of pregnancy |
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Term
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Definition
| samples routinely taken from pregnant women to monitor the concentrations of marker chemicals. |
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Term
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Definition
| diagnostic test to determine if the foetus has a medical condition – performed later in pregnancy and has lower risk of miscarriage |
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Term
| chorionic villus sampling (CVS) |
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Definition
| diagnostic test to determine if the foetus has a medical condition – performed earlier in pregnancy and has higher risk of miscarriage |
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Term
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Definition
| image of chromosomes from the cells sampled by amniocentesis and CVS |
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Term
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Definition
| any of the 22 pairs of non-sex chromosome |
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Term
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Definition
| individual who is not affected by a genetic condition but can pass it on to their offspring |
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Term
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Definition
| pattern of inheritance caused by recessive allele on autosome |
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Term
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Definition
| pattern of inheritance caused by dominant allele on autosome |
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Term
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Definition
| pattern of inheritance caused by two alleles on autosome that are neither fully recessive or fully dominant to the other allele |
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Term
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Definition
| pattern of inheritance caused by recessive allele on part of X chromosome where there is no corresponding Y chromosome |
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Term
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Definition
| diagnostic testing done after baby is born |
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Term
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Definition
| type of mutation that causes PKU |
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Term
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Definition
| condition that results from non-functional enzyme for breakdown of phenylalanine to tyrosine |
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Term
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Definition
| dietary amino acid that is not broken down in PKU |
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Term
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Definition
| treatment for someone with phenylketonuria (PKU) |
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