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Flashcards in Genetics Deck (9)
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1

ways to obtain tissue for DNA or chromosome test on a fetus

placenta - chorionic villus biopsy
skin/urine cells - amniocentesis
blood - fetal blood sampling
fetal DNA from maternal serum

2

when is chorionic villus biopsy done and what is the miscarriage risk and the viability of the tissue

11.5 weeks
1-2%
good

3

when is amniocentesis done, what is the miscarriage risk and what is the viability of the tissue

16 weeks +
0.5-1%
poor

4

when is fatal blood sampling done, what is the miscarriage risk and what is the viability of the tissue

18 weeks +
1-2%
good

5

when is fatal DNA from maternal blood taken, what is the miscarriage risk, what is the viability of the tissue

8 weeks +
none
stable

6

when is aCGH or chromosome analysis done

high risk of chromosomal trisomy on screening

fetal abnormality on scanning such as small size, increased nuchal thickness, structural malformation

parent has balanced chromosomal rearrangement

7

parental screening in scotland

dating US with serum biochem at 12 weeks

serum screening at 16 weeks - maternal blood test to look for biochemical markers of down syndrome

20 week detailed scan to look for other fatal abnormalities

8

patau syndrome genetics
signs/symptoms

trisomy 13
bilateral cleft lip and post axial polydactyly
varying degrees of holoprosencephaly sometimes resulting in cyclopia

9

turners syndrome signs

neck webbing and oedema