Genetics Flashcards
what tissue types can be used to do genetic testing on a foetus?
placenta
skin
urine
maternal serum
what is used to obtain a sample of placental tissue?
chorionic villus biopsy
what is done to obtain a sample of foetal skin or urine?
amniocentesis
when can a chorionic villus biopsy be performed?
11.5 weeks
when can amniocentesis be performed?
15 weeks +
what is the name of the test where maternal serum is analysed to look at the DNA of the foetus?
non invasive prenatal testing (NIPT)
what can NIPT be used for?
sex determination
trisomy testing
when can surgical termination of pregnancy occur?
before 13 weeks
when is there no time limit on termination of pregnancy?
risk of serious abnormality in the child
risk to the health of the mother
what can invasive foetal testing look for?
chromosome abnormalities
single gene changes
what can be used to look for chromosome abnormalities?
chromosome microarray
what can be used to look for single gene changes?
PCR
NGS
what is another name for chromosome microarray?
array CGH
array comparative genomic hybridisation
when should chromosome microarray be performed on a foetus?
NIPT positive for trisomy
foetal abnormality on scanning
parent has a balanced chromosome rearrangement
what things are considered a foetal abnormality on scanning?
small size
increased nuchal thickness
structural malformation
