Genetics Flashcards
when is CVS carried out
11-12 weeks
when is an amniocentesis carried out
16 weeks
what carries greater risk miscarriage - amnio or CVS
CVS
what is a non-invasive method of genetic sampling on a foetus
free foetal DNA in maternal circulation
what can free foetal DNA in maternal circulation be used for, and what is it made up of
its made up of 90% maternal DNA and 10% foetal
trisomy test, sex determination, some chromosome deletions and single gene mutations
what may be used to look for chromosome abnormalities
microarray
karyotyping
what may be used to look for single gene changes
PCR
NGS
when would you do chromosome analysis
high risk trisomy
foetal abnormality
screening
parent has balanced chromosome arrangement
appearance of floppy baby?
lack head control
frog legged
feel like out of grasp
breathing issues
central causes floppy baby
HIE intracranial haemorrhage malformation chromosome abnormality TORCH acquired infection drug
spinal causes floppy baby
birth trauma
syringomyelia
ant horn cell causes floppy baby
spinal muscular atrophy
pompes disease
NMJ causes floppy baby
infantile botulism
myaesthenia gravis
muscular causes floppy baby
myotonic dystrophy
congenital myopathies
metabolic causes floppy baby
carnitine deficiency
acid maltase deficiency
important features of history to take on floppy baby?
miscarriage before?
consanguinity
decreased foetal movements
early intervention to floppy baby?
respiratory and feeding support
physiotherpay
OT
parent involvement
describe the process of microarray
put patient DNA and ‘normal’ into sample
if there is greater hybridisation of patient DNA then there is a duplication
if there is greater hybridisation of normal DNA then it is deletion
true/false - microarray can be used for deletions/insertions to the single base pair
false
NGS shows huge numbers of mutations/polymorphisms. how can these be narrowed down to a possible causative mutation.
filter
remove polymorphisms
does it affect the gene?
is it a gene affecting phenotype?
