Pathology
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Fetopathology and developmental pathology of the embryo and fetus
Marta Ježová, Josef Feit et al.
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Hygroma colli cysticum
Introduction

Cystic hygroma is a cystic mass localized in the nuchal region. It is a congenital malformation of the lymphatic system. Most fetuses with cystic hygroma have abnormal karyotype.

Etiology, pathogenesis
  • A communication between the primitive lymphytic system and the jugular vein is formed in the early gestation. Failure of developement of this communication results in lymphatic stasis in distended lymphatic channels.
  • 50% of fetuses with cystic hygroma have Turner syndrome
  • 10 – 15% have trisomy 18, 13, 21
  • Cystic hygroma in normal karyotype is associated with multiple lethal pterygium syndrome, Noonan syndrome etc.
Clinical signs
  • unilocular or multilocular cystic mass
  • usually localized in the cervical region (75%), additional 20% are found in the axilla and rare cases in the mediastinum, retroperitoneum etc.
  • hygroma colli often progress to hydrops fetalis

Cystic hygroma (72712)

Pictures

21-week fetus, hydrops fetalis, nuchal cystic hygroma. Turner syndrome: Hydrops, nuchal edema, Macro, autopsy (72712)

Hygroma colli with septa from inside, the same case: Hygroma colli cysticum, detail, Macro, autopsy (72780)

20-week fetus, hydrops fetalis, hygroma colli cysticum. Lethal multiple pterygium syndrome: Lethal multiple pterygium syndrome, hydrops, Macro, autopsy (72777) Lethal multiple pterygium syndrome, hydrops, Macro, autopsy (72778)