Term
| At what stage of a pregnancy does the dating scan take place? |
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Definition
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Term
| At what stage of a pregnancy does the anomaly scan take place? |
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Definition
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Term
| What is the purpose of the dating scan in pregnancy? |
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Definition
| to determine the stage of the pregnancy and predict the due date |
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Term
| What is the purpose of the anomaly scan in pregnancy? |
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Definition
| to detect serious physical abnormalities in the foetus |
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Term
| What type of tests are routine during pregnancy? |
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Definition
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Term
| What is taken during an amniocentesis? |
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Definition
| sample of amniotic fluid containing the foetal cells |
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Term
| What is taken during CVS ? |
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Definition
| sample of placenta containing the foetal cells |
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Term
| What is the advantage of CVS over amniocentesis? |
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Definition
| CVS can be done earlier in pregnancy |
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Term
| What is the disadvantage of CVS over amniocentesis? |
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Definition
| CVS has a higher risk of causing a miscarriage |
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Term
| What are the foetal cells from CVS or amniocentesis used for? |
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Definition
| the are cultured and a karyotype is made |
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Term
| Which type of allele causes the condition in autosomal recessive inheritance? |
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Definition
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Term
| Which type of allele causes the condition in autosomal dominant inheritance? |
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Definition
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Term
| Which type of inheritance will show in all generations of a family tree? |
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Definition
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Term
| Which type of inheritance has three different phenotypes? |
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Definition
| autosomal incomplete dominance |
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Term
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Definition
| one of the non sex chromosomes |
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Term
| Where are the alleles for sex linked conditions located? |
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Definition
| on the section of the X chromosome where there is no corresponding Y chromosome. |
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Term
| How many different phenotypes are there in a condition that has incomplete dominance? |
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Definition
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Term
| What is a carrier in family trees? |
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Definition
| a heterozygous person in autosomal recessive or sex linked recessive conditions / not affected but can pass on to offspring |
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Term
| What are the chances in autosomal recessive inheritance, of a heterozygous couple having a child who is affected? |
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Definition
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Term
| In sex linked recessive conditions which parent passed the condition to their son? |
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Definition
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Term
| Name one condition tested for in postnatal screening. |
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Definition
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Term
| What type of single gene mutation causes PKU? |
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Definition
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Term
| What is the effect of PKU? |
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Definition
| cannot breakdown amino acide phenylalanine - leads to mental development problems |
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Term
| What is the treatment for PKU? |
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Definition
| restricted diet / avoid phenylalanine in diet /avoid protein in diet |
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