Future Perspectives

Question 1

What is NIPT?

Answer 1

non-invasive prenatal testing

Question 2

What is aneuploidy?

Answer 2

the presence of an abnormal number of chromosomes in a cell

Question 3

where is cell free DNA found in the maternal circulation?

Answer 3

Adipocytes + White blood cells

Question 4

where is fetal cell free DNA found?

Answer 4

Placental cells -> trophoblasts (also in maternal circulation)

Question 5

What is cell free DNA?

Answer 5

DNA that is non-ecapsulated in the blood stream

Question 6

what cell free DNA does blood plasma contain?

Answer 6

maternal and fetal

Question 7

what cell free DNA does the buffy coat contain?

Answer 7

maternal

Question 8

why is a low fetal fraction bad?

Answer 8

increases risk of obtaining a false negative result

Question 9

What fetal fraction is best?

Answer 9

0-4 = too low
4-8 = intermediate (|affects counting method)
8+ = best performance

Question 10

What are Xenotransplants?

Answer 10

transplant of living cell/tissues/organs between species

Question 11

What is germline gene therapy?

Answer 11

permanent transfer of a gene into a sperm/egg

Question 12

what is somatic cell gene therapy?

Answer 12

transfer of genes only to affected cells

Question 13

What 4 conditions has gene therapy helped cure?

Answer 13

• melanoma
• sick cell anaemia
• hereditary blindness
• severe combined immunodeficiencies

Question 14

What Is a haplotype

Answer 14

Set of genetic determinants on a single chromosome