pack 10 - genetic screening

Question 1

when is amniocentesis done

Answer 1

15-17 weeks

Question 2

amnioscentesis procedure

Answer 2

foetal cells collected from amniotic fluid
needle in abdomen

Question 3

risks of amniscentesis

Answer 3

miscarriage = 0.5-1%
false positive
emotional stress

Question 4

when is chorionic villus sampling done

Answer 4

8-12 weeks

Question 5

CVS procedure

Answer 5

foetal cells collected from placenta
needle through abdomen or cervix

Question 6

risks of CVS

Answer 6

miscarriage = 1-2%
false positive
emotional stress

Question 7

when is non invasive prenatal diagnosis done

Answer 7

7-9 weeks
analyse DNA fragments from mothers blood plasma

Question 8

risks of NIPD

Answer 8

false positive
emotional stress

Question 9

when is pre-implantation genetic diagnosis done

Answer 9

8 cell embryo stage

Question 10

PGD procedure

Answer 10

one cell taken from embryo

Question 11

PGD risks

Answer 11

false negative
other characteristics- designer babies
IVF is expensive and stressful with low success

Question 12

when is identifying carriers done

Answer 12

from birth onwards

Question 13

identifying carriers proceddure

Answer 13

white blood cells collected form blood or cheek swab
extract DNA

Question 14

risks of identifying carrier

Answer 14

emotional stress
false pos/neg
not test for all poss mutations

Question 15

CVS vs Amniocentesis results

Answer 15

CVS = few days
amniocentesis = few weeks

Question 16

positive of NIPD

Answer 16

no risk of miscarriage

Question 17

ethical issues

Answer 17

fetus is living- abortion is murder
abnormality found- issue with employment or insurance
not fully understand risk of prenatal testing- possible harm or miscarriage