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Pregnancy loss testing

Important information regarding the East GLH pregnancy loss testing service

Dear Colleagues,

The East Genomic Laboratory Hub (Cambridge, Leicester and Nottingham Genomic laboratories) are aligning their pregnancy loss testing services to national practice and the NHS England Rare Disease Test directory.

Please find below important information about the sample acceptance criteria for the clinical indication R22 Fetus with a likely chromosomal abnormality.

Regional implementation of the eligibility criteria below will apply to samples taken from 1st December.

  1. Second trimester pregnancy loss samples (13 to 27+6 weeks gestation) in the absence of fetal anomalies, associated with a genetic cause will no longer be tested.
    Please note:
    Neural tube defects e.g. spina bifida, acrania, are not associated with a genetic cause and are not considered appropriate for testing.
    Pre-term delivery or fetal demise due to spontaneous rupture of membranes, placental abruption or twin pregnancy in the absence of any fetal anomaly, is not considered appropriate for testing.
    Second trimester losses will be tested if the patient has had recurrent miscarriages (3 or more miscarriages) and would fall under the test code R318 Recurrent miscarriage with products of conception available for testing.
  2. Testing of third trimester intrauterine death or still birth samples will only be tested in the absence of other likely causes of fetal demise.
  3. Confirmation testing of fetal tissue, placental tissue, neonatal samples, following an abnormal prenatal result will no longer be carried out unless clinical information suggests a discordant or mosaic result. For such cases, please send samples with supporting clinical information.
  4. Private testing for pregnancy loss samples is no longer supported in any of the 3 laboratories.

For more information, please see Rare Disease test directory eligibility criteria https://www.england.nhs.uk/publication/national-genomic-test-directories/ (opens in a new tab)

Please visit our website for contact detail for each laboratory https://www.eastgenomics.nhs.uk/about-us/genomic-laboratory-hub/contact-us/