Flashcards in Genetics Deck (28):
Which organ do you carry out chorionic villus biopsy on?
How could you test fetal skin cells/urine
How could you sample fetal blood?
Fetal blood sampling
When can you carry out CVS?
When can you carry out amniocentesis?
Earliest genetic test you can perform during pregnancy?
Fetal DNA from maternal blood (8 weeks +)
NO miscarriage risk!
Only genetic test with NO miscarriage risk
Fetal DNA from maternal blood
This test carries the risk of confined placental moscaicism
Chorionic villus biopsy
What are single nucleotide polymorphisms?
Single base changes
What are copy number variations?
Insertions or deletions of DNA segments
If you have a high risk of trisomy on screening, which test would you do next?
If you see a fetal abnoramlity on scanning, what test would you do next?
If a parent has a balanced chromosomal rearrangement, what test should you do?
Around what week could you see increased nuchal thickness?
What is covered in the week 12 pre-natal screening?
This scan dates gestation and looks at the serum biochemistry
-done at week 12
-increased nuchal thickness may be seen
When is serum screening done and what does it look at?
-done week 16
-looks at maternal blood to look for biochem markers of Down syndrome
What does the 20 week detailed scan look at?
To look for other fetal abnormalities
What week could you check maternal blood for biochem markers of Down syndrome?
What can you use non-invasive prenatal testing to look for?
(occasionally: chromosome deletions or looking at a single gene)
Non-invasive testing = maternal blood with fetal DNA in it)
A mother has a son with duchennes, what test can you offer?
Non-invasive prenatal testing to determine sex of the baby:
-if it is a boy do CVS (because X-linked)
-if it is a girl, reassure
Mrs Green is 12 weeks pregnant – serum biochemistry and nuchal thickness measurement gives a risk of 1 in 40 that the baby is affected with Down syndrome. What test can you do?
So she's already had the ultrasound
= do non-invasive prenatal testing
-test the mum's blood for fetal DNA
Mrs Blue comes to see you. She is 18 weeks pregnant. A detailed scan has shown that her baby has a cardiac defect: an AtrioVentricular Septal Defect that is commonly seen in Down syndrome.
Do amniocentesis and array CGH
-this is the best test for several reasons e.g. array CGH will detect small deletions such as 22q11 deletions
Bilateral cleft lip and postaxial polydactyl
Often varying degrees of holoprosencephayl sometimes resulting in cyclopia
Patau syndrome (trisomy 13)
What would array CGH look like in the parent with a balanced translocation?
aCGH would be normal (aCGH only detects imbalance)
Mrs Roberts comes to see you. She is 10 weeks pregnant. She has a balanced reciprocal translocation between chromosome 4 and chromosome 9, that has a high risk of causing a liveborn child with multiple malformations.
What tests would you do?
-chorionic villus sample
-direct karyotype/FISH may be available