Ante And Post Natal

Question 1

What identifies the risk of disorders so that further test and a prenatal diagnosis can be offered ?

Answer 1

Antenatal screening

Question 2

How many ultrasound scans are given to pregnant woman?

Answer 2

2

Question 3

When is a dating scan carried out?

Answer 3

Between 8-14 weeks

Question 4

What do dating scans determine ?

Answer 4

The pregnancy stage and due date

Question 5

What are dating scans used with ?

Answer 5

With tests for marker chemicals which vary normally during pregnancy

Question 6

When is an anomaly scan carried out ?

Answer 6

Between 18 and 21 weeks

Question 7

What may anomaly scans detect?

Answer 7

Serious physical abnormalities in the fetus

Question 8

Why are routine blood and urine tests carried out throughout pregnancy?

Answer 8

To monitor the concentrations of marker chemicals

Question 9

What can measuring a chemical at the wrong time during pregnancy lead to?

Answer 9

A false positive

Question 10

What can an atypical chemical concentration in pregnancy lead to?

Answer 10

Diagnostic testing to determine if the fetus has a medical condition

Question 11

What 2 techniques are used to diagnose a range of genetic conditions?

Answer 11

Amniocentesis and chorionic villus sampling (CVS)

Question 12

What is an advantage of CVS over amniocentesis?

Answer 12

CVS can be carried out earlier in pregnancy than amniocentesis

Question 13

What is a disadvantage of CVS over amniocentesis?

Answer 13

CVS has a higher risk of miscarriage than amniocentesis

Question 14

Where are sample cells taken from during amniocentesis?

Answer 14

Amniotic flu

Question 15

Where are sample cells taken from during CVS?

Answer 15

Placenta

Question 16

The cells from amniocentesis and CVS samples can be cultured to obtain sufficient cells to produce what?

Answer 16

A karyotype to diagnose a range of conditions

Question 17

What is a karyotype?

Answer 17

It shows an individual’s chromosomes arranged as homologous pairs

Question 18

In deciding to proceed with these diagnostic tests, what will be assessed?

Answer 18

The element of risk will be assessed, as will the decisions the individuals concerned are likely to make if a test is positive

Question 19

What condition is caused when the enzyme which converts phenylalanine to tyrosine is non-functional?

Answer 19

Phenylketonuria (PKU)

Question 20

What type of mutation causes phenylketonuria (PKU)?

Answer 20

Substitiution

Question 21

How can PKU be treated?

Answer 21

By placing suffers on a restricted diet

Question 22

Which type of disorders are carried on the autosomes (chromosomes 1-22) and affect males and females equally?

Answer 22

Autosomal

Question 23

On which chromosome are sex linked disorders carried on?

Answer 23

X

Question 24

Decide the pattern of inheritance:
Disorder appears in every generation. Each sufferer of the trait has an affected parent

Answer 24

Autosomal dominant

Question 25

Decide the pattern of inheritance: More males will be affected than females. Affected males do not pass the condition to their sons, they can only pass the condition to their daughters

Answer 25

Sex linked recessive

Question 26

Decide the pattern of inheritance: Disorders skip generations – it does not appear in every generation. Sufferers require two recessive alleles to be affected (homozygous recessive). Two unaffected heterozygous carrier parents can have an affected child.

Answer 26

Autosomal recessive

Question 27

Decide the pattern of inheritance: The dominant allele does not fully express itself.. The fully expressed form of the disorder occurs relatively rarely, whereas the partially expressed trait form occurs much more frequently

Answer 27

Incomplete dominance