Presentation: Patient with a previous history of stillbirth

A woman books her pregnancy at eight weeks’ gestation. She had a previous intrauterine death (IUD) at 35 weeks’ gestation 12 years ago. 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 it had a genetic cause.

• It should be noted that 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.
• One-quarter of all stillbirths can be attributed to genetic aetiologies, particularly when fetal structural anomalies are identified. Detailed genomic testing is not routine; however, it should be offered in cases in which:
  • there are prenatal or postnatal fetal structural anomalies; and/or
  • there is a family history of a genetic condition.

• Refer your patient for high-risk care via your local pathways. If no clear cause for the previous IUD is identified in the patient records, it may be appropriate for early referral to clinical genetics services. From there, it can be discussed whether further testing is indicated.
• Testing of previous pregnancies may be considered where the history suggests that this is appropriate and tissue or samples are available for testing. In certain circumstances, and when management of an ongoing pregnancy would be altered by a genetic diagnosis, these processes can be expedited.
• The clinical genetics team will review the NHS England National Genomic Test Directory eligibility criteria to determine which tests are available to your patient. The directory itself provides a list of all available tests.
  • For those working within NHS Wales, please consult the All Wales Medical Genomics Service website for information on how to arrange testing.
• If there is evidence of fetal anomaly in the current pregnancy, the following testing may be considered:
  • R22 Fetus with a likely chromosomal abnormality. This will process both:
    • R22.1 Genome-wide common aneuploidy testing; and
    • R22.2 Chromosomal microarray.
  • Where there are multiple or complex anomalies and/or above testing is non-diagnostic, fetal exome sequencing may be considered:
    • R21 Fetal anomalies with a likely genetic cause: fetal exome sequencing.
      • Referral to clinical genetics and/or multi-disciplinary discussion is required.
      • A record of discussion form is required.
• For all 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.
• 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
• Royal College of Obstetricians and Gynaecologists: Late intrauterine fetal death and stillbirth (Green-top Guidelines No.55)

For patients

• Antenatal Results and Choices: Another pregnancy
• Royal College of Obstetricians and Gynaecologists:When your baby dies before birth: Patient information
• Sands
• Tommy’s: Pregnant after a stillbirth