Presentation: Patient with second- or third-trimester intrauterine death or stillbirth

A woman in her third pregnancy attends the fetal medicine unit at 25 weeks for her first scan. She has already had two healthy babies. This pregnancy was dated based on the head circumference. The team identifies polyhydramnios with a visible stomach and normal bladder. The baby is small and there is bowing of both legs and a sandal gap on the left foot. The woman declines any screening or genomic testing. At a follow-up scan at 28 weeks, the team identifies an intrauterine death (IUD).

• When there is severe intrauterine growth restriction, especially in the absence of pre-eclampsia.
• When there is a structural fetal anomaly.

• Follow your local protocol for consent for post-mortem and cytogenetic testing. If the obstetric team or pathologist deem it appropriate, a referral to clinical genetics may be completed.
• 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.
• Genomic testing will depend on the phenotype of the fetus. It can include:
  • R27 Congenital malformation and dysmorphism syndromes: microarray and sequencing; and
  • R412 Fetal anomalies with a likely genetic cause: non-urgent.
• Where a skeletal disorder is suspected, the following tests may also be useful:
  • R24 Phenotypic suspicion of achondroplasia;
  • R25 Phenotypic suspicion of thanatophoric dysplasia;
  • R104 Phenotypic suspicion of a monogenic skeletal dysplasia; and
  • R102 Phenotypic suspicion of osteogenesis imperfecta.
• For DNA-based tests (the above listed tests), a cord sample is preferred (though alternative samples may come from a post-mortem). 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
• Royal College of Obstetricians and Gynaecologists: Late intrauterine fetal death and stillbirth (Green-top Guideline No. 55) (PDF, 33 pages)

References:

• Kooper A, Faas B, Feenstra I and others. Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome-wide SNP array analysis. Molecular Cytogenetics 2014: volume 7, issue 1, page 6. DOI: 1186/1755-8166-7-6
• Liu J, Huang L, He Z and others. Clinical value of genetic analysis in prenatal diagnosis of short femur. Molecular Genetics and Genomic Medicine 2019: volume 7 issue 11, page e978. DOI: 10.1002/mgg3.978

For patients

• Sands: Deciding about a post-mortem examination: Information for parents (PDF, 40 pages)
• Tommy’s: Stillbirth information and support