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Higher Human 2.4
2.4- Antenatal and postnatal screening
| Question | Answer |
|---|---|
| What do we call the variety of techniques can be used to monitor the health of the mother and developing foetus? | Antenatal screening |
| What do we call the techniques used to monitor the baby ? | Postnatal screening |
| What does antenatal screening do? | Antenatal screening identifies the risk of a disorder so that further tests and a prenatal diagnosis can be offered. |
| In the UK, how many ultrasounds is the average women given ? | Pregnant women are given two ultrasound scans. |
| What is the first scan known as? | Dating scans |
| When is the first scan carried out? | between 8 and 14 weeks |
| What is the first scan used for? | Dating scans which determine pregnancy stage and due date are used with tests for marker chemicals which vary normally during pregnancy |
| What is the second scan known as? | Anomaly scans |
| When is the second scan? | between 18 and 20 weeks |
| What is the second scan used for? | detect serious physical abnormalities in the foetus |
| What is used to monitor concentrations of marker chemicals? | Routine blood and urine tests |
| What can an atypical chemical concentration lead to? | diagnostic testing to determine if the foetus has a medical condition |
| What are the two types of diagnostic testing? | Amniocentesis and chorionic villus sampling (CVS) |
| What is the advantage of chorionic villus sampling (CVS)? | It can be carried out earlier in pregnancy than amniocentesis. |
| What is the disadvantage of chorionic villus sampling (CVS)? | It has a higher risk of miscarriage. |
| What happens to cells taken from Amniocentesis and chorionic villus sampling (CVS)? | samples can be cultured to obtain sufficient cells to produce a karyotype to diagnose a range of conditions |
| What is a karyotype? | A karyotype shows an individual’s chromosomes arranged as homologous pairs. |
| What is the definition of the term allele? | versions of a gene e.g. eye colour alleles= blue, brown,green, hazel etc |
| What is the definition of the term dominant? | The allele that will always be shown in phenotype if present |
| What is the definition of the term recessive? | the allele that will be hidden unless no dominant allele is present |
| What is the definition of the term homozygous? | Organisms that has 2 of the same alleles for a specific trait |
| What is the definition of the term heterozygous? | Organisms that has 2 different alleles for a specific trait |
| What is the definition of the term genotype? | the alleles an organism has e.g. TT, Tt, tt |
| What is the definition of the term phenotype? | what the organism looks like |
| What is the definition of the term autosomes? | chromosomes 1-22 |
| What is the definition of the term sex chromosomes? | chromosomes 23 |
| What are the characteristics of an autosomal recessive inherited condition? | The trait is expressed relatively rarely The trait may skip generations Males and females are affected in approximately equal numbers |
| What would the genotype of a sufferer of an autosomal recessive condition be? | aa- two recessive alleles. |
| What are the characteristics of an autosomal dominant inherited condition? | The trait is expressed in every generation Each sufferer of the trait has an affected parent Males and females are affected in approximately equal numbers |
| What would the genotype of a sufferer of an autosomal dominant condition be? | Hh or HH They would contain at least one dominant allele. |
| What are the characteristics of an autosomal incomplete dominant inherited condition? | The fully expressed form occurs relatively rarely The partly expressed form occurs much more frequently Each sufferer of the fully expressed form has two parents who suffer from the partly expressed form |
| What are the characteristics of a sex-linked inherited condition? | Many more males are affected than females (if any) All sufferers of the trait are homozygous recessive (male XhY and very rarely the female XhXh) |
| What disease do postnatal screening in the UK check for? | phenylketonuria (PKU) |
| What is phenylketonuria (PKU)? | In PKU a substitution mutation means that the enzyme which converts phenylalanine to tyrosine is non-functional |
| How is In PKU treated? | Individuals with high levels of phenylalanine are placed on a restricted diet |
Created by:
mackas89
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