Downs syndrome: antenatal testing Flashcards

1
Q

what is used to assess downs syndrome?

A

nuchal translucency measurement + serum B-HCG + pregnancy-associated plasma protein A (PAPP-A)

combined test

quadruple test

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

when is the tests done?

A

11 - 13+6 weeks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

what results suggest downs syndrome?

A

↑ HCG, ↓ PAPP-A, thickened nuchal translucency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

what happens to the hcg in patau’s (trisomy 13) and Edwards syndrome (trisomy 18)

A

low

similar results

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

when and who is the quadruple test offered to?

A

if women book later in pregnancy the quadruple test should be offered between 15 - 20 weeks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

what does the quadruple test measure?

A

alpha-fetoprotein, unconjugated oestriol, human chorionic gonadotrophin and inhibin A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

results of alpha-fetoprotein, unconjugated oestriol, human chorionic gonadotrophin and inhibin A in Downs syndrome?

A

alpha-fetoprotein low

unconjugated oestriol low

human chorionic gonadotrophin high

inhibin A high

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

results of alpha-fetoprotein, unconjugated oestriol, human chorionic gonadotrophin and inhibin A in Edwards syndrome

A

alpha-fetoprotein low

unconjugated oestriol low

human chorionic gonadotrophin low

inhibin A normal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

alpha-fetoprotein, unconjugated oestriol, human chorionic gonadotrophin and inhibin A in neural tube defects

A

alpha-fetoprotein high

unconjugated oestriol normal

human chorionic gonadotrophin normal

inhibin A normal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

what is a non-invasive pre-natal screening test?

A

If a woman has a ‘higher chance’ results she will be offered a second screening test (NIPT) or a diagnostic test (e.g. amniocentesis or chorionic villus sampling (CVS).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly