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Flashcards in Genetics Deck (13):
1

How can placental tissue be obtained for genetic testing?

Chorionic villus biopsy from 11.5 weeks gestation

2

How can skin/urine cells of a foetus be obtained for genetic testing?

Amniocentesis from 16 weeks gestation

3

How can blood of a foetus be obtained for genetic testing?

Foetal blood sampling from 18 weeks gestation

4

How can foetal DNA be obtained for genetic testing?

Maternal serum from 8 weeks gestation

5

Rank chorionic villus biopsy, amniocentesis, foetal blood sampling and maternal serum in order of greatest to smallest risk of miscarriage

Chorionic villus biopsy
Foetal blood sampling
Amniocentesis
Maternal serum (no risk)

6

Rank chorionic villus biopsy, amniocentesis, foetal blood sampling and maternal serum in order of most viable to least viable tissue

Chorionic villus biopsy
Foetal blood sampling
Maternal serum
Amniocentesis

7

What is confined placental mosaicism?

Discrepancy between chromosomal makeup of placental cells and cells in the baby

8

List the indications for chromosomal analysis in pregnancy

Raised maternal age
Increased risk on screening: nuchal thickness, serum, DNA
Abnormality on ultrasound
Known parental abnormality

9

What does array CGH analyse?

Changes in the number of copies of a particular gene in a diseased state
Basically looks at chromosome makeup

10

List the 4 main genetic tests used for chromosome analysis

Array CGH
Standard karyotype
FISH
QF-PCR

11

What does pre-implantation genetic diagnosis (PGD) involve?

Perform a genetic test on an embryo before re-implanting it with "correct" genetic info

12

What method is used to implant genetic info in PGD?

Intra-cytoplasmic sperm injection (ICSI)

13

How old is the embryo when it is biopsied in PGD?

3 days