Presentation: Pregnant woman with a child affected by a suspected genetic condition

A couple are seen by their midwife for their pregnancy booking appointment. They explain at the appointment that they have a three-year-old son who has developmental delay, and that his paediatrician is considering a genetic diagnosis.

Genomic testing should be considered if:

• a genetic condition is suspected in the child of a pregnant patient;
• a genetic condition has been confirmed in the child of a pregnant patient;
• there are structural anomalies or other concerning features in a current pregnancy; and/or
• there is a family history of a genetic condition.

• Consult the National Genomic Test Directory. From here 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.
  • For information about how to arrange testing in Wales, Scotland or Northern Ireland, see our dedicated Knowledge Hub resource.
• To find out which genes are included on different gene panels, see the NHS Genomic Medicine Service (GMS) Signed Off Panels Resource.
• Collect a detailed family and personal history from the couple.
• Refer to clinical genetics for review by a clinical geneticist or genetic counsellor.
• • The clinical genetics team will consider which testing is most suitable. This may include both testing of children and parental testing.
• • In the prenatal setting, rapid diagnostic genomic testing may be considered.
• Refer to a consultant-led maternity unit for obstetric review. The couple may need referral to their local fetal medicine unit.
• If an invasive test is required in the current pregnancy, an amniocentesis or chorionic villus sample or fetal blood sample (in a purple-topped EDTA tube) 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

For patients

• Antenatal Results & Choices
• Genetic Alliance UK