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Articles » Aneuploidy » Trisomy 21
2007-05-01-10 Trisomy 21, ventricular septal defect © Cuillier
Trisomy 21, ventricular septal defect

Fabrice Cuillier, MD*; P. Lemaire, MD**; M. Desayes, MD**.

*     Department of Gynecology, Félix Guyon"Hospital, 97400 Saint-Denis, Ile de la Réunion, France.
**    Department of Obstetric, Mamoudzou"s Hospital, Ile de la réunion, France.


Case report

This is a 32-year-old G3P1, with an unremarkable medical history. Her ultrasound scans performed at 13 and 22 weeks was normal, but the triple test wasn"t done. She presented to our department at 31st week of pregnancy. Our ultrasound investigation revealed an interventricular septal defect of the heart and intrauterine growth retardation. An amniocentesis was performed at 31st week and revealed trisomy 21 (47XY+21).

Images 1, 2: 31st week of pregnancy. Gray scale 2D ultrasound images at the level of four chamber view showing pathological alignment of atrioventricular valves at the same level.


Images 3, 4: 31st week of pregnancy. Gray scale 2D ultrasound (image 3) and color Doppler (image 4) images showing membranous interventricular septal defect.


Images 5, 6: 31st week of pregnancy. Gray scale 2D ultrasound images. Image 5 shows membranous interventricular septal defect. Image 6 shows normal nasal bone of the fetus.


Video 1, 2: 31st week of pregnancy. Color Doppler (video 1) and gray scale (video 2) images showing membranous interventricular septal defect of the heart.



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