Presentation: Patient experiencing recurrent miscarriage

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.

• Genomic testing is typically indicated with the third miscarriage, and all subsequent miscarriages.

• 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 pregnancy loss.
• The relevant team will refer to the NHS England National Genomic Test Directory eligibility criteria to determine which tests are available for your patient. The test directory itself provides a list of all available tests.
  • R318 Genomic testing for the third and each subsequent miscarriage where products of conception are available:
    • R318.1 Common aneuploidy testing, which may include trisomy 21, trisomy 18, trisomy 13 and certain sex chromosomal anomalies; and
    • R318.2 Microarray testing to look for any duplicated or deleted chromosomal segments.
  • R297.1 Parental blood karyotyping should be offered to both parents where products-of-conception testing has shown an unbalanced chromosomal anomaly.
    • For those working within NHS Wales, please consult the All Wales Medical Genomics Service website for information on how to arrange testing.
• For DNA-based tests (all the above listed tests), an EDTA sample is required. For many of the tests (particularly whole genome and exome sequencing), parental samples are also needed or are helpful. Please refer to your local Genomic Laboratory Hub for details of test request forms and where to send samples.
• A record of discussion form, or another appropriate local consent form, is required for testing.
• 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

• NHS England: National Genomic Test Directory

References:

• Regan L, Rai R, Saravelos S and others. ‘Recurrent Miscarriage Green-top Guideline No. 17‘. British Journal of Obstetrics and Gynaecology 2023: volume 130, issue 12, pages e9–e39. DOI: 10.1111/1471-0528.17515

For patients

• Royal College of Obstetricians and Gynaecologists: Recurrent and late miscarriage patient information leaflet