LO Related (Part 1) Flashcards
(113 cards)
Disadvantages the screening
Longer morbidity when prognosis is unaltered
Potential over treatment of abnormalities
Resource cost
False reassurance from false negatives
Anxiety from false positives
Hazard of the sreening test
Term in pregnancy
37-42 weeks
40 weeks on average
What anti epilieptic durg should be stopped during pregnancy
What if it isnt suitable to stop this drug?
Valproate
If cant then increase the dose of folic acid
Why are pregnant mothers usually given magnesium sulphate
Evidence that it aids neurological development
White blood cell with a kidney shaped nucleus
Monocytes
What is the exon-intron boundary AKA
Consensus sequence
White blood cell identification
- Second most common
- Large circular nucelus
- Some granuels
Lymphocytes
White blood cell identification
- Distinctive 3-5 lobed nucleus
Neutrophil
How many lobes of nuclei do eosoinophils have
Two
What does the APGAR score look at
What is is scored out of
What is a normal score
Tone/activity Colour Breathing HR Reflexes
Out of 10 (rare to get a 10)
Get worried if less than 5
Why are basophils so names
Describe their appreance
They are basophilic (stain blue) with a bilobed nucleus
Also contain granules (likely to contain histamine)
How should you describe the risk of a baby having downs syndrome
SHould really say that CHANCE
How is the chance of a baby having DS calculated
Screening results plus the age of the mother
How many babies born with DS
1 in 800
Most common downs syndrome screening
Nuchal translucency and blood tests (combinesd)
These are offered to ALL eligible mothers between 10-20 weeks **usually at week 11-13
When are the TRIPLE and QUADRUPLE tests
When are they used?
How do they compare to the nuchal transluency and combined test
TRIPLE - 14 wks
QUADRUPLE - 20 weeks
Have lower detection rates
NICE guidance regarding who gets which DS screen
IN FIRST TRIMESTER
Combined test
IN SECOND TRIMESER
Triple or quadruple test
Two diagnostic tests for DS
When are they performed
What are the rates of miscarriage
CHORIONIC VILLUS SAMPLING
(10-13 weeks)
(1-2% miscarriage risk)
AMNIOCENTESIS 15 weeks (0.5-1% miscarriage risk) If done at 14 weeks risk doubles
What is NIPT
What are the controversies around this
Non invasive prenatal testing
Testing the blood for cell free foetal DNA
High detection rate
BUT NEED TO HAVE AMNIOCENTESIS BEFORE A TERMINATION IS ABLE TO OCCUR
When is pregancy termination legal?
1) life of mother in danger
2) foetus have severe abnormalities
3) mental/physical health of mother will be harmed
4) other children will be harmed
MUST BE BEFORE 24 WEEKS (2 doctors required)
This is not the case if 1) or 3) apply (mothers life in danger, or mental/phys health may be harmed)
What is CHRONIC GRANULOMATOUSE DISEASE
X-linked mutation affecting NADPH OXIDASE
Defect in neutrophils and oxidative burst
Patients get severe bacterial infections and usually require life-long antibitoics
Complement regulatior proteins
Factor H and I (break down C3b)
C1INH
CFHR-1 (inhibits C5 converatase)
membrane cofactors which breakdwon C3b and C4b
Effects of genetic defects in C1-C4
Recurrent infection with pygenic bacteira
Effects of genetic defects in C5-C9
Failure to form MACs
Increases the suseptibility to N.Meningitiis