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2011-04-21-08 Monosomy X © Salvatori

Monosomy X

Massimo Maria Salvatori, MD, Francesco Torcia, MD

Department of Women’s health, “Sapienza” University of Rome – Ospedale Sant’Andrea Roma, Italy.

Case report

This is a case of a 29-year-old G1 P0. Her first scan was performed at 10 weeks of gestation and the gestational age corresponded with her last menstrual period.
The ultrasound scan at 12 weeks of gestation revealed the following:

  • Abnormal nuchal translucency with a septated cystic hygroma
  • Mild pleural effusion
  • Generalized subcutaneus edema
  • Single umbilical artery
  • Bilateral club-feet

The chorionic villous sampling with polymerase chain reaction (PCR) revealed a monosomy X and the couple decided to terminate the pregnancy.

Images 1,2: 12 weeks, axial view of the fetal head, images show cystic hygroma.

Images 3,4: Image 3 shows a transverse view of the fetal thorax with generalized skin edema. Image 4 shows clubfoot.

Videos 1,2: Video 1 shows pleural effusion. Video 2 shows a single umbilical artery.

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