Cystic hygroma (Turner's syndrome)

Case contributed by Dr Praveen Jha


Antenatal scan at 20 weeks

Patient Data

Age: 20 weeks gestation
Gender: Female

A large septated cystic hygroma is seen.

Case Discussion

This case shows a septated cystic hygroma (arrowed on the images), usually associated with Turner's syndrome (45 X0), later proven by amniocentesis.

In this particular case, the fetus had subcutaneous edema. Fetal echo (not included here) was also done by fetal medicine experts, who found a ventricular septal defect and relatively short long bones.

Interestingly, this fetus also demonstrates features suggestive of Dandy-Walker variant, with a hypoplastic vermis and an enlarged cystic space in the posterior fossa. This is an additional finding, and is not commonly associated with Turner's Syndrome.

The pregnancy was interrupted, and cystic hygroma with an edematous fetus was confirmed.

Please note that although several images showed apparent defect in the cranial vault posteriorly, this proved to be artefactual in real time imaging.

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