Genetics Flashcards

1
Q

How can placental tissue be obtained for genetic testing?

A

Chorionic villus biopsy from 11.5 weeks gestation

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2
Q

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

A

Amniocentesis from 16 weeks gestation

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3
Q

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

A

Foetal blood sampling from 18 weeks gestation

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4
Q

How can foetal DNA be obtained for genetic testing?

A

Maternal serum from 8 weeks gestation

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5
Q

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

A

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

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6
Q

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

A

Chorionic villus biopsy
Foetal blood sampling
Maternal serum
Amniocentesis

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7
Q

What is confined placental mosaicism?

A

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

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8
Q

List the indications for chromosomal analysis in pregnancy

A

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

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9
Q

What does array CGH analyse?

A

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

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10
Q

List the 4 main genetic tests used for chromosome analysis

A

Array CGH
Standard karyotype
FISH
QF-PCR

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11
Q

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

A

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

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12
Q

What method is used to implant genetic info in PGD?

A

Intra-cytoplasmic sperm injection (ICSI)

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13
Q

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

A

3 days

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