Trisomy 21 with tricuspid regurgitation

Fabrice Cuillier, MD

Service de Gynécologie-Obstétrique, Hôpital Félix Guyon, Saint-Denis de La Réunion, France.

Case report

This is a case of a 30-year-old woman, G2P1, who was referred to our antenatal unit at 26 weeks of gestation. She had non-contributive personal and family history.

Our ultrasound examination revealed enlarged right atrium with tricuspid regurgitation. We did not detect any other abnormalities.

Patient decided to continue her pregnancy and agreed with amniocentesis. The fetal karyotype was abnormal and showed trisomy 21 (47 XX, +21).]

Images 1,2: Image 1 shows fetal profile with present nasal bone of normal length. Image 2 shows fetal face.

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Images 3,4: Dilated right atrium.

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