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Overview

While most cases of fetal ovarian cysts are isolated and sporadic, there may be other associated anomalies (particularly in the gastrointestinal and genitourinary systems). These include:

  • renal agenesis;
  • polycystic kidneys;
  • oesophageal atresia;
  • duodenal atresia; and
  • imperforate anus.

McKusick-Kaufman syndrome is a genetic syndrome associated with fetal ovarian cysts, alongside hydrometrocolpos, polydactyly and heart defects.

Clinical features

A fetal ovarian cyst is diagnosed if there is a fluid-filled sac greater than two centimetres in diameter. Fetal ovarian cysts:

  • can be a range of sizes;
  • can lead to ovarian torsion if they are over four centimetres in size (if this happens, or the cyst experiences haemorrhage, the appearance can be complex or solid);
  • can cause polyhydramnios if they are over six centimetres in size; and
  • can lead to ascites if they rupture.

Potential genetic causes

Most cases of fetal ovarian cysts are sporadic, with no genetic cause found. A few are associated with genetic syndromes; most commonly, McKusick-Kaufman syndrome.

Genomic testing is not usually performed for an isolated ovarian cyst. Where an ovarian cyst is found with other anomalies, however, testing should be considered and appropriate referrals made.

Inheritance and genomic counselling

Where a fetal ovarian cyst is isolated, there is no risk of recurrence. If, however, the cause is found to be McKusick-Kaufman syndrome (an autosomal recessive condition), the risk of recurrence is 25%, or one in four subsequent pregnancies.

Management

Antenatal management

  • Patients should be referred to a fetal medicine unit for a further detailed ultrasound.
  • Serial ultrasound scans should be offered every four weeks to assess the size of the cyst.
  • If the cyst grows to more than six centimetres, guided aspiration should be considered.
  • Induction of labour aiming for a vaginal delivery should be offered from 38 weeks in a centre with appropriate neonatal care and access to paediatric surgery if required.

Postnatal management

  • Many cysts are benign and resolve spontaneously.
  • Occasionally surgery is needed to remove them if they persist or cause torsion.

Resources

For clinicians

References:

 

For patients

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  • Last reviewed: 05/01/2023
  • Next review due: 05/01/2025
  • Authors: Dr Abby Hyland
  • Reviewers: Dr Andrew Breeze, Dr Jessica Woods