Monosomy X, hygroma colli

Fabrice Cuillier, MD*; H. M"Lamali**

*     Department of Gynecology, Félix Guyon"Hospital, 97400 Saint-Denis, Ile de la Réunion, France;
**    Department of Gynecology, Félix Guyon"Hospital, 97400 Saint-Denis, Ile de la Réunion, France.

Case report

This is a 28-year-old G2P1 referred to our antenatal unit at 12 weeks of pregnancy. Following findings were discovered:

  • An abnormal nuchal translucency (7mm) and a septated cystic hygroma.

  • Normal fetal length.

  • Generalized subcutaneous edema (anasarca).

Chorionic villus sampling revealed 45X0 karyotype and the parents opted for termination of the pregnancy.

Images 1, 2: 12th week of pregnancy. 2D ultrasound images showing axial scans at various levels of the fetal head with massive nuchal edema (hygroma colli).

1A
1B

Images 3, 4: 12th week of pregnancy. 2D ultrasound images showing axial scans at various levels of the fetal head with massive nuchal edema (hygroma colli).

1C
1D

Images 5, 6: 12th week of pregnancy. 2D ultrasound images showing sagittal scans through the nuchal region with massive nuchal edema (hygroma colli).

2A
2B

Image 7: 12th week of pregnancy. 3D ultrasound image showing sagittal scans through the nuchal region with massive nuchal edema (hygroma colli).

2C

Image 8: 12th week of pregnancy. Four-chamber-view of the heart.

3B

 

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