Fetal hydrops

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Inclusion Criteria

  • Non-immune fetal hydrops surviving >16 weeks gestation, AND
  • Normal infection screen (including parvovirus, CMB, rubella +- syphilis, VZV), AND
  • No evidence of Rh or other blood group incompatibility, AND
  • Haemoglobinopathy excluded where present in parent, AND
  • Normal fetal +- neonatal amniotic fluid screen for storage disorders (glycosaminglycans), AND
  • If IUGR: normal placental artery dopplers AND middle cerebral artery Doppler <1.5MoM

Please note: samples from ongoing pregnancies should NOT be included.

Exclusion Criteria

  • Isolated structural cardiac anomaly or cardiac arrhythmia
  • Fetal tumour
  • Fetal lung mass
  • Maternal pre-eclampsia
  • Poorly controlled maternal DM/hypothyroidism
  • Twin-twin transfusion

Prior genetic testing guidance

  • Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
  • Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:

  •  Consideration of RASopathy screen (low threshold for PTPN11 exons 3 & 8)
  • Low threshold Niemann Pick analysis if splenomegaly or Ashkenazi ancestry

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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