Genetic Screening

Question 1

genetic screening

Answer 1

when whole populations are tested for a genetic disease

Question 2

phenylketonuria (PKU)

Answer 2

a recessive genetic disorder where those affected lack the enzyme needed to digest the amino acid phenylalanine; the amino acid builds up in the blood and causes severe brain damage

Question 3

prenatal screening

Answer 3

screening of an embryo or fetus before birth

Question 4

amniocentesis

Answer 4

a type of prenatal screening which involves removing a sample of amniotic fluid at around 16 weeks of pregnancy, culturing the fetal cells found and analysing them for genetic diseases

Question 5

chronic villus sampling

Answer 5

a type of prenatal screening where a small sample of embryonic tissue is taken from the developing placenta and the cells tested for genetic diseases

Question 6

preimplantation genetic diagnosis

Answer 6

testing the cells of an embryo produced by IVF to check for genetic diseases before it is implanted into the uterus of the mother