4. Ante and Post Natal Screening

Question 1

What type of scan is used to determine the stage of pregnancy?

Answer 1

Dating Scan

Question 2

During which stage of pregnancy does the dating scan take place?

Answer 2

Between weeks 8 and 14

Question 3

What type of scan detect physical abnormalities?

Answer 3

Anomaly scan

Question 4

Which technique is used to generate an image of the developing foetus?

Answer 4

Ultrasound

Question 5

What term describes when a disorder is indicated in error?

Answer 5

False Positive

Question 6

What term describes when a disorder is missed in error?

Answer 6

False Negative

Question 7

Which bio-marker is measured to screen for Down’s Syndrome?

Answer 7

Alpha-Fetoprotein (AFP)

Question 8

What are the 2 diagnostic tests?

Answer 8

Amniocentesis and Chorionic Villus Sampling (CVS)

Question 9

What test shows an individual’s chromosomes?

Answer 9

Karyotype

Question 10

What is an advantage of CVS over amniocentesis?

Answer 10

Carried out earlier in pregnancy

Question 11

What is an advantage of amniocentesis over CVS?

Answer 11

Lower risk of miscarriage

Question 12

Different versions of genes are known as…

Answer 12

Alleles

Question 13

An allele will always be expressed if it’s …

Answer 13

Dominant

Question 14

An allele will always be repressed if its…

Answer 14

Recessive

Question 15

2 copies of the same allele would be described as…

Answer 15

Homozygous

Question 16

Different copies of an allele would be described as…

Answer 16

Heterozygous

Question 17

The combination of alleles is someone’s…

Answer 17

Genotype

Question 18

The trait that results from the genotype is known as the…

Answer 18

Phenotype

Question 19

The X and Y chromosomes are known as the…

Answer 19

Sex Chromosomes

Question 20

Chromosomes 1 to 22 are known as the…

Answer 20

Autosomal Chromosomes

Question 21

Autosomal Recessive disorders require how many copies of the faulty allele?

Answer 21

2

Question 22

Autosomal Dominant disorders require how many copies of the faulty allele?

Answer 22

1

Question 23

Sex Linked disorders are carried on the…

Answer 23

X Chromosome

Question 24

In sex linked recessive disorders males have what % chance of inheriting the disorder?

Answer 24

50%

Question 25

In sex linked dominant disorders, how many copies of the faulty X Chromosome are required?

Answer 25

1

Question 26

Which amino acid cannot be converted to tyrosine in PKU?

Answer 26

Phenylalanine