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Example clinical scenario

A couple attend clinic having had three consecutive first-trimester miscarriages. The woman has had one previous spontaneous vaginal delivery with a previous partner and has no live children with her current partner.

When to consider genomic testing

  • Genomic testing is typically indicated after a couple have had three consecutive pregnancy loss.
  • Testing may be offered for all subsequent pregnancy losses after three consecutive pregnancy losses, unless a genomic cause is identified.

What do you need to do?

  • Consult the National Genomic Test Directory. From this directory you can access the rare and inherited disease eligibility criteria for information about individual tests and their associated eligibility criteria. You can also access a spreadsheet of all available tests.
  • To find out which genes are included on different gene panels, see the NHS Genomic Medicine Service (GMS) Signed Off Panels Resource.
  • Refer to local guidance on recurrent early pregnancy loss. Referral to a recurrent pregnancy loss clinic is advised.
  • Referral to clinical genetics is not routinely indicated for recurrent early pregnancy loss but may be advisable where testing identifies a genomic cause or there is a known family history of a genetic disorder.
  • R318 Recurrent miscarriage with products of conception available for testing: This indication is for the third and each subsequent miscarriage where products of conception are available:
  • R297.1 Possible structural chromosomal rearrangement – karyotype: Parental blood karyotyping should be offered to both parents where products-of-conception testing has shown an unbalanced chromosomal anomaly.
  • Where there are less than three early pregnancy losses but other features suggestive of a chromosomal anomaly or genetic cause, alternative testing pathways can be considered.
    • R22 Fetus with a likely chromosomal abnormality: For cases of isolated miscarriage with additional features suggestive of chromosome abnormality.
    • R412 Fetal anomalies with a likely genetic cause – non urgent. Testing can be used in cases of fetal anomaly with likely genetic cause.
  • For many of the tests (particularly whole genome and exome sequencing), parental samples are also needed or are helpful.
  • For tests that are undertaken using whole genome sequencing (WGS), you will need to:
  • For tests that do not include WGS, you will need to:
    • complete a test order form and consent (record of discussion) form, available from your local Genomic Laboratory Hub (GLH).
    • include details of the phenotype in the test order form (refer to HPO terms or the clinical summary) as well as the appropriate panel name(s) with associated R number.
    • parental samples may be needed for interpretation of the proband’s result. Parental samples can be taken alongside that of the proband, and their DNA stored, or can be requested at a later date if needed.
  • All of the above tests are DNA based and an EDTA sample (purple-topped tube) is required.
  • Information about patient eligibility and test indications was correct at the time of writing. When requesting a test, please refer to the National Genomic Test Directory to confirm the right test for your patient.

Resources

For clinicians

References:

For patients

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  • Last reviewed: 28/02/2024
  • Next review due: 28/02/2025
  • Authors: Dr Lucy McCabe
  • Reviewers: Professor Sahar Mansour, Dr Jessica Woods