KA 4: Ante And Postnatal Screaning

Question 1

Antenatal screening identifies…

Answer 1

The rise of a disorder so that further tests and a prenatal diagnosis can be offered

Question 2

Dating scan

Answer 2

Ultrasound imaging performed between 8-14 weeks of pregnancy.
Determine pregnancy stage and due date

Question 3

Anomaly scan

Answer 3

Ultrasound imagining at 18-20 weeks of pregnancy to detect serious physical abnormalities in the fetus.

Question 4

Blood and urine tests

Answer 4

Carried out throughout pregnancy to monitor concentrations of marker chemicals

Question 5

An atypical chemical concentration can lead to…

Answer 5

Diagnostic testing to determine if the Fetus has a medical condition

Question 6

Measuring a chemical at the wrong time could lead to a…

Answer 6

False positive result

Question 7

Diagnostic testing is performed by…

Answer 7

Amniocentesis or a chorionic villus sampling (CVS)

Question 8

Compared to amniocentesis, CVS can be carried out…

Answer 8

Earlier in pregnancy

Question 9

Compared to amniocentesis, the risk of miscarriage following CVS is…

Answer 9

Higher

Question 10

Cell samples obtained from amniocentesis or CVS can be…

Answer 10

Cultures to obtain sufficient cells to produce a karyotype

Question 11

A karyotype shows…

Answer 11

An individual’s chromosomes arranged as homologous pairs

Question 12

A karyotype is used to…

Answer 12

Diagnose a range of conditions

Question 13

Allele

Answer 13

Different forms of a gene

Question 14

Homozygous

Answer 14

An organism that has two identical alleles for a trait

Question 15

Heterozygous

Answer 15

An organism that has two different alleles for a trait

Question 16

Dominant

Answer 16

An allele that is always expressed

Question 17

Recessive

Answer 17

An allele that is masked when a dominant allele is present

Question 18

Genotype

Answer 18

Am organisms genetic makeup, or allele combinations

Question 19

Phenotype

Answer 19

Physical characteristics of an organism

Question 20

Autosomes

Answer 20

Any chromosome that is not a sex chromosome

Question 21

Sex Chromosomes

Answer 21

X and Y chromosomes

Question 22

Incomplete dominance

Answer 22

Situation in which one allele is not completely dominant over another allele

Question 23

Autosomal dominant

Answer 23

Inheritance pattern or a dominant allele of an autosome

Question 24

Postnatal screening includes

Answer 24

Diagnostic testing for conditions such as phenylketonuria (PKU)

Question 25

What causes PKU?

Answer 25

A Substitution mutation in an Enzyme which converts phenylalanine to tyrosine - the enzyme is then non - functional

Question 26

Treatments for individuals with PKU

Answer 26

Placed on a restricted diet