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Foetus MSc - Riona > Prenatal diagnosis > Flashcards

Prenatal diagnosis Flashcards

1
Q

Give 2 benefits of prenatal diagnosis

A

Parental reassurance
Increased parental options
Altered obstetric management
Facilitated neonatal management

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2
Q

Give 2 risks of prenatal diagnosis

A

False positive and negatives
Increased anxiety
Pregnancy complications/loss

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3
Q

What is nuchal translucency?

A

SC fluid filled space between skin and back of foetal neck

USS 11-14 weeks

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4
Q

What is an abnormal nuchal translucency, and what are the next steps?

A

> 3mm

Diagnostic testing, foetal ECG, detailed scan, genetic counselling

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5
Q

What are the two types of non-invasive chromosomal evaluation?

A

Foetal cells from maternal blood

Preimplantation diagnosis

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6
Q

What are the 3 types of invasive chromosomal evaluation?

A

Amniocentesis
Chorionic villus tissue sampling
Foetal blood

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7
Q

Give 2 risks of amniocentesis

A 
Pregnancy loss
Fluid leak
Amniocitis
Vaginal bleeding
Foetal injury
HIV vertical transmission
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8
Q

What are the two types of analysis of CVS, and which is better?

A

Cultured: more accurate for foetal c/somes, better

Direct

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9
Q

What is non-invasive maternal blood testing?

A

Foetal cells/free foetal DNA in maternal blood

Blood test at 10+ weeks

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10
Q

What are two drawbacks of non-invasive maternal blood testing?

A

Screening only

Not available on NHS

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11
Q

What is true mosaicism?

A

2 or more cell lines in two or more cell cultures

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12
Q

What is pseudo mosaicism?

A

2 or more cell lines in only one culture

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13
Q

What are the 4 possible conditions of mosaicism in CVS?

A

Mosaicism only in placenta, not affecting foetus/placental function
Mosciacism only in placental, not affecting foetus, affecting placental function
Trisomy cells in placenta and foetus
Trisomy in placenta and UPD cells in foetus

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14
Q

What does mosaicism in the amniotic fluid mean?

A

Increased chance of mosaicism in foetus

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15
Q

What is uniparental disomy?

A

Both copies of same c/some inherited from same parent

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16
Q

Give 3 causes of UPD

A

Trisomic rescue
Monosomic rescue
Gamete complementation
(explain!)

17
Q

Give 2 health concerns of UPD

A

Parental imprinting in heterodisomy and isodisomy

Recessive conditions in isodisomy

18
Q

Give 3 factors the outcome of UPD is dependent on

A

Which c/somes
Which tissue
Level of trisomy

19
Q

Define heterodisomy

A

Different copies of same c/some

20
Q

Define isodisomy

A

Identical copies of same c/some

Foetus MSc - Riona (10 decks)

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