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Online Mendelian Inheritance in Man
2011-11-24-16 Trisomy 21 © Patel
A 21-year-old woman (G1P0) underwent ultrasonographic examination at 19 weeks 4 days of gestational age and following findings were noticed:
thickened nuchal fold of the fetus;
hypoplastic nasal bone;
shortened long bones (humerus, femur);
atrioventricular septal defect was suspected.
Amniocentesis was done and confirmed trisomy 21 (Down syndrome). Here are some images that weobtained.
Images 1, 2
: 19 weeks 4 days gestational age; the images show thickened nuchal fold of the fetus.
Images 3, 4
:19 weeks 4 days gestational age; the images show hypoplastic nasal bone of the fetus.
mages 5, 6
:19 weeks 4 days gestational age; the images show hyperechoic bowels (Image 5) and short humerus (Image 6; the humerus corresponded just to 18 weeks + 1 day gestational age) of the fetus.
:19 weeks 4 days gestational age; atrioventricular septal defect was suspected (red flow via ventricular septal defect).
Other items by Patel
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Situs inversus, ventricular septal defect-HTML
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