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2010-08-16-10 Monosomy X at 12 weeks of gestation © Pavlova

Monosomy X at 12 weeks of gestation

Elena Pavlova, MD, Dimiter Markov, MD, PhD,  Dilyana Atanassova, MD,  Peter Markov, MD. 

Medical center “Markovs”, Sofia, Bulgaria.

Case report

A 35-year-old G1 P0 with no significant medical history was examined in our center at 11 weeks + 4 days of gestation. The scan revealed a viable fetus (CRL=50mm) with a big septated nuchal translucency (NT=7.44mm), generalized skin edema and absent nasal bone. The patient opted for termination of pregnancy. Monosomy X was confirmed by polymerase chain reaction.

Images 1,2: Image 1 shows a transverse view of the septated, enlarged nuchal translucency. Image 2 shows a sagittal view of the fetus, note enlarged NT (7.44 mm) and absent nasal bone.

Images 3,4: Images showing hydrops and cystic hygroma.

Images 5: 3D-image showing cystic hygroma.

Video 1,2: Videos of the cystic hygroma.

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