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Example clinical scenario

A woman books her pregnancy at eight weeks’ gestation. She had a previous intrauterine death (IUD) at 35 weeks’ gestation. All appropriate fetal loss tests were completed following the birth. At the time of the birth and afterwards, she was advised that it was “just one of those things” and was never given a reason. She has wondered ever since whether there was a genetic cause.

When to consider genomic testing

  • Many stillbirths cannot be attributed to any cause. The most common identifiable cause of stillbirth is disorders of placental function, often manifesting as poor fetal growth.
  • Up to 1 in 4 (25%) of all stillbirths have a genetic cause. This is more likely when fetal structural anomalies are identified.
  • Genomic testing should be offered where:
    • Prenatal or postnatal fetal structural anomalies are identified.
    • There is a family history of a genetic condition.

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 the patient for consultant-led care via local pathways.
  • Referral to clinical genetics services for clinical review where there is no clear cause for the previous pregnancy loss.
  • Genetic testing of previous pregnancies may be considered where the history suggests that this is appropriate and tissues or samples are available. If management of an ongoing pregnancy would be altered by a genetic diagnosis, these processes can often be expedited.
  • If there is evidence of fetal anomaly in the current pregnancy, the following testing may be considered:
  • 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, 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.


For clinicians

For patients

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  • Last reviewed: 27/02/2024
  • Next review due: 27/02/2025
  • Authors: Heather Longworth
  • Reviewers: Dr Andrew Breeze, Dr Jessica Woods