Unexplained monogenic fetal disorders


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Inclusion Criteria

  • Fetuses with a normal chromosome test considered likely to have a monogenic disease by a clinician expert in fetal genetics

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

Exclusion Criteria

  • Likely teratogenic, infectious or chromosomal cause
  • Likely placental cause

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

Where rapid aneuploidy testing and/or detailed chromosome testing (e.g. microarray) is indicated, this should be completed PRIOR TO RECRUITMENT. Further genetic testing in line with current local practice should be considered in parallel with recruitment but is NOT required prior to recruitment.

Closing statement

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

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