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Old 10-11-2012
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Question Fetal Ultrasound Question

38 y.o woman is in her 12th week of gestation. She has recieved all vitamin supplementation prior and after conception. Ultrasound examination of fetus shows the following:



which of the following is most likely diagnosis?:

a) Disrupted rostral neuropore closure
b) Dandy walker Malformation
c) Down's Syndrome
d) Normal Fetal Maturation
e) Failure of Rostral fold Closure
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c) Down's Syndrome
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Old 10-11-2012
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My answer is C) Down syndrome. Increased nuchal translucency, measurement that is done between 11-13 weeks of pregnancy, is a sign of Down syndrome.
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Default my answer :)

c) Down's Syndrome
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Hi good Q ...
when I saw the pic I can't understand anything so can u help me to over this problem ... any good website ??
thanx
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Initially I was like

then looked through options saw Downs>> back to USG looked for nuchal area..

Downs it is !!
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C. down syndrome

I could see low set ears in the image.
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Default Nice Job

Yes Fetus Most likely has Down's Syndrome.



I think there is smth about pathogenesis of nuchal translucency which is very low yield for step 1 (imo), but is nice concept to be aware of. thing is that normally fetal fluid collects around the neck. in downs syndrome there is excessive Collagen type 4 synthesis ( 3 * 21 chromosomes contain it's gene ) and this leads to more elastic composition of neck connective tissue thus high distentibilty(thus amount of fluid increases)

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1114626/

Another thing to aware of is that high nuchal translucency is also associated with tuner's syndrome,but here it's due to abnormal lymphatics and so called webbed neck.

gl.
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thank u for q and explanation
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Quote:
Originally Posted by beka-CTS View Post
38 y.o woman is in her 12th week of gestation. She has recieved all vitamin supplementation prior and after conception. Ultrasound examination of fetus shows the following:



which of the following is most likely diagnosis?:

a) Disrupted rostral neuropore closure
b) Dandy walker Malformation
c) Down's Syndrome
d) Normal Fetal Maturation
e) Failure of Rostral fold Closure
Seems nuctual pads to me
Down syndrome.
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Default Cystic Hygroma

After doing this question i had doubt that how would cystic hygroma look like.
So here it is.
Fetal Ultrasound Question-1.jpg

Quite similar but its a biggie.
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Embryology-, Radiographs-, Step-1-Questions, Syndromes-Acronyms

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