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2011-12-02-16 Trisomy 21 (Down syndrome), first trimester, two cases © Grochal www.TheFetus.net

Trisomy 21 (Down syndrome), first trimester, two cases

Frantisek Grochal, MD

Femicare, s.r.o., Center of prenatal ultrasonographic diagnostics, Martin, Slovak republic. UVN SNP Ruzomberok, Gynecological and obstetrical department. Catholic University in Ruzomberok, Faculty of Health Care, Ruzomberok, Slovak Republic.


Case 1

 
A 40-year-old woman (G1P0) with non-contributive history was sent to our office at 11 weeks, 1 day gestational age. Our examination revealed following findings:
 
  • slightly increased nuchal translucency (2.12 mm, CRL 48.2 mm corresponding to 11 weeks, 4 days gestational age;
  • normal nasal bone;
  • atrioventricular septal defect with consequent tricuspid insufficiency and reversed flow at the level of the ductus venosus.

Chorionic villus sampling was performed and revealed trisomy 21 (Down syndrome) of the fetus. The parents opted for the termination of the pregnancy.

Images 1, 2, 3: 11 weeks, 1 day gestational age: sagittal scan of the fetus with slightly increased nuchal translucency (NT 2.12 mm). Image 3 represents 3D scan of the fetal head - small round ear can be seen (although small round ears make part of the Down syndrome spectrum, we have to admit that this finding is a bit speculative in this period of pregnancy).
 
 



Image 4: 11 weeks, 1 day gestational age: sagittal scan of the fetus with normal nasal bone.



Images 5, 6, 7, and 8: 11 weeks, 1 day gestational age: transverse scans of the fetal thorax showing atrioventricular septal defect of the heart. Images 6 and 8 represent fusion of the images 5 and 7 with drawings explaining the position of the heart and location of the atrioventricular septal defect.

 

 

Videos 1, 2: 11 weeks, 1 day gestational age: transverse scans of the fetal thorax showing atrioventricular septal defect of the heart.

 

Images 9, 10: 11 weeks, 1 day gestational age: images show tricuspid regurgitation of the heart (Image 9) and reversed flow at the level of the ductus venosus (Image 10).

 

Case 2

A 38-year-old woman (G3P2) with non-contributive history was sent to our office at 11 weeks, 6 day gestational age. Our examination revealed following findings:
 
  • massive nuchal edema - nuchal translucency 8 mm;
  • absent nasal bone;
  • atrioventricular septal defect with consequent tricuspid insufficiency and reversed flow at the level of the ductus venosus.

Chorionic villus sampling was performed and revealed trisomy 21 (Down syndrome) of the fetus. The parents opted for the termination of the pregnancy.

Images 11, 12: 11 weeks, 6 day gestational age: sagittal and transverse scans of the nuchal fetal region with massive edema - nuchal translucency (NT 8 mm).

 

Videos 3, 4: 11 weeks, 6 day gestational age: sagittal scans of the fetus with massive nuchal edema reaching abdominal region.
 
 

Images 13, 14: 11 weeks, 6 day gestational age: transverse scans of the fetal thorax showing atrioventricular septal defect of the heart. Images 6 and 8 represent fusion of the images 5 and 7 with drawings explaining the position of the heart and location of the atrioventricular septal defect.

 

Image 15: 11 weeks, 6 day gestational age: image shows tricuspid regurgitation of the heart.


Images 16, 17, and 18: 11 weeks, 6 day gestational age: 3D scan of the fetus showing massive nuchal edema (arrows on the image 17). Image 18 shows normal fetal hands (brachydactyly is not assessable in this way and period of the pregnancy).

 

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