Screening

Question 1

explain early disease detection

Answer 1

discovering/treating conditions which have already produced pathological changes but haven’t reached a stage needing immediate medical aid

Question 2

name 5 principles for early disease detection

Answer 2

condition should be important
disease should have accepted treatment
recognisable latent/early stage
suitable test/exam
complete disease history must be understood

Question 3

what is a main underlying cause of cervical cancer?

Answer 3

a high risk subtype of HPV

Question 4

where does HPV replicate and what does it produce?

Answer 4

replicates in maturing squamous cells
produces koilocytes

Question 5

what is the DNA difference in high risk and low risk HPV?

Answer 5

low risk - free viral DNA within the cell
high risk - incorporates DNA into host cell genome

Question 6

what do E6 and E7 proteins do?

Answer 6

reactivates cell cycle in non-proliferating cells

Question 7

how are CIN and CGIN formed?

Answer 7

persistent infection or cell cycle disruption in epithelial cells without an external stimulus causes precursor lesions

Question 8

what is the difference in severity in the 3 different types of precursor lesions?

Answer 8

CIN1 - not that serious
CIN2/3 - at risk for cervical cancer

Question 9

what is tested for in cervical cancer screening?

Answer 9

tested for HPV
cytology (if HPV+)

Question 10

what is the difference between normal and abnormal cells when testing for cytology?

Answer 10

abnormal cells have enlarged and misshaped nuclei, and not as much cytoplasm

Question 11

what is the term for the presence of abnormal cells in cytology?

Answer 11

dyskaryosis

Question 12

what is colposcopy?

Answer 12

examination of the cervix using a specialist microscope
acetic acid applied to highlight abnormalities

Question 13

how often is bowel screening tests carried out?

Answer 13

every 2 years in people between 50-74

Question 14

how often is breast screening carried out?

Answer 14

every 3 years in women aged between 50 and 70

Question 15

what is the test for breast cancer?

Answer 15

x-rays to both breasts

Question 16

what is the test for bowel screening?

Answer 16

fecal immunochemical test testing for haemoglobin

Question 17

what is the midwife responsible for in pregnancies?

Answer 17

care for expecting mothers and baby during pregnancy
care for mother/baby during labour and birth
health visitor takes over after birth

Question 18

when are pregnancy scans offered?

Answer 18

week 12 - dating scan
week 20 - anomaly scan

Question 19

how many appointments are provided for pregnant woman with their midwife?

Answer 19

first pregnancy - 7
otherwise - 5

Question 20

what risk factors in the pregnant woman are initially tested by the midwife?

Answer 20

BP, pre-eclampsic features, mental health, BMI, gestational diabetes

Question 21

describe what is looked at in the dating and anomaly scans

Answer 21

dating - baby development stage
anomaly - bones, heart, spine, face, kidneys, abdomen (looking for abnormalities)

Question 22

what is the difference between screening and diagnostic tests?

Answer 22

screening - shows high chance of abnormality
diagnostic - shows whether abnormality is present

Question 23

name some possible screening tests a pregnant woman can recieve

Answer 23

blood tests
prenatal ultrasounds
combined tests for downs (T21), edwards (T18) and patau’s (T13) syndrome

Question 24

explain chorionic villous sampling

Answer 24

sample from the placenta taken will contain the same chromosome complement as the fetus
carried out between 11-14 weeks gestation
1% miscarriage risk

Question 25

explain amniocentesis

Answer 25

samples amniotic fluid which contains fetal cells
cells grown in culture and chromosomes analysed to look for downs syndrome or cyctic fibrosis
carried out 15 weeks gestation
1% miscarriage risk

Question 26

explain non-invasive prenatal testing

Answer 26

cell-free DNA testing
cell free fetal DNA migrate into maternal bloodstream through the apoptotic trophoblast cells shedding from placental tissue
blood test taken after 10 weeks gestation

Question 27

what are the components of first trimester combined screening?

Answer 27

maternal age
nuchal translucency
free beta HCG
pregnancy associated plasma protein A (PAPPA)

Question 28

what is nuchal translucency?

Answer 28

a fluid filled fold at the back of the neck is enlarged in downs syndrome (3mm+)
is only present during first trimester pregnancy so must be assessed before 12 weeks

Question 29

name alternate risk factors for abnormalities in pregnancy markers

Answer 29

gestation
maternal weight
multiple pregnancies
smoking
ethnicity
IVF
previous downs syndrome pregnancy

Question 30

what are chromosomal anomalies?

Answer 30

any changes to a persons chromosome complement

Question 31

what is trisomy?

Answer 31

3 copies of a particular chromosome instead of 2

Question 32

what is the most common reason for trisomy to occur?

Answer 32

non-disjunction of gametes in meiosis
(both chromosomes end up in the same cell)

Question 33

what are the general symptoms of downs syndrome?

Answer 33

learning difficulties, slanting eyelids, small nose, large tongue, low set ears, single palmar crease

Question 34

what conditions are downs syndrome patients at a higher risk of?

Answer 34

heart conditions
infections
epilepsy
GI issues
hypothyroidism
eyesight/hearing

Question 35

what are the main clinical features of edwards syndrome?

Answer 35

learning difficulties, low birth weight, decreased muscle tone, low set ears, club feet, overlapping fingers

Question 36

what are the severe side effects of edwards syndrome?

Answer 36

congenital heart/kidney disease, breathing issues, GI defects, hernias

Question 37

what are the clinical features of patau’s syndrome?

Answer 37

learning difficulties, microphthalamia, cleft lip/palate, extra digits, low muscle tone

Question 38

what is the most common severe defect in patau’s syndrome?

Answer 38

severe heart difficulties