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drprasuSend an Instant Message to drprasu  




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Quick Scroll OBG - down syn 10.18.05 (3 years ago) #1

a pregnant female,38 yrs old, is having a history of giving birth to baby with down's syndrome. how do you assess the risk
in present pregnancy

1) CVB
2) maternal AFP
3) maternal HCG
4) USG
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Quick Scroll 10.18.05 (3 years ago) #2

CVB:: genetic
MSAFP: decreased
mat HCG: increased
USg:various anomalies of which nuchal thickness is normally measured and taken into account for the diagnosis!

so as she has the history cvb wud be better!
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Quick Scroll 10.18.05 (3 years ago) #3

actually question has specifically asked about assessing the risk which is done by serum tests.
CVB is used to make definitive diagnosis
and is done in those pts who are classified by
serum as having high risk in present pregnancy.

had the question asked how would you make diagnosis answer would have been CVB or
amniocentesis
but yes this is a high risk preg. as there is h/o
affected baby.
what is the percentage of recurrence of down syn. in subsequent pregnancy? is it 1%?
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Quick Scroll 10.18.05 (3 years ago) #4

pregnacies at risk see page 479 ghai5th edi
mother having previousabnormal offspring should be offered chorionic villus sampling at 10-12 weeksto determine gestation or aminocentesis around 16th week of pregnancy to determine the chromosomal status of the fetus.

in other women with low risk maternal serum afp, hcgand estriol assya(triple assyas)
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Quick Scroll 10.18.05 (3 years ago) #5

ya right, thanx
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Quick Scroll risk 10.19.05 (3 years ago) #6

drprasu wrote:
what is the percentage of recurrence of down syn. in subsequent pregnancy? is it 1%?


if it is classic downs -due to nondisjunction -risk=1%

if translocation--risk does not depend on maternal age but on parent carier of translocation.
21/21==either parent=100%

14/21==mother==10%,father-2.5%
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