Triploidy

Elena Andreeva, MD; Svetlana Chuchvaga, MD; Olga Savchenko, MD; Yulia Nikolaeva, MD

Medica Genetic Center, Gomel, Belarus.

Case report

A 29-year-old woman (G1P0) presented at 12 weeks of pregnancy. The ultrasound investigation revealed several anomalies (cephalo-abdominal disproportion, cyst of the cisterna magna, hypoplastic nasal bone, interventricular septal defect, tricuspid regurgitation, reversed flow in the ductus venosus, and a large metopic suture). Consequent chorionic villi sampling found triploidy (69, XXX) and the parents opted for the termination of the pregnancy.

Images 1, 2: 12 weeks of pregnancy. The image 1 shows a sagittal scan of the fetus with marked cephalo-abdominal disproportion (big head, smaller abdomen); the image 2 shows the measurement of the hypoplastic nasal bone.

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Images 3, 4: 12 weeks of pregnancy. The image 3 shows sagittal scan of the fetus with marked cephalo-abdominal disproportion (big head, smaller abdomen); the image 2 shows a transverse scan through the enlarged cisterna magna.

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Images 5, 6: 12 weeks of pregnancy. Image 5 shows the reversed flow at the level of the ductus venosus. The image 6 shows tricuspid regurgitation of the heart.

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Images 7, 8: 12 weeks of pregnancy. 3D images of the fetal head with the enlarged metopic suture.

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