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The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R470

T21, T18 and T13 aneuploidy testing – NIPT NHS Fetal Anomaly Screening Programme (FASP)

Test Group

Test code

R470.1

Test name

T13, T18 & T21 aneuploidy testing NIPT NHS FASP

Target genes

Test scope

Aneuploidy

Test method/ technology

NIPT

Optimal Family Structure

n/a

Eligibility Criteria

Test for Down’s syndrome (Trisomy 21), Edwards’ syndrome (Trisomy 18) and Patau’s syndrome (Trisomy 13) as part of the NHS FASP pathway.
Any current pregnancy with a higher chance screening result from the NHS FASP combined or quadruple test. A higher chance result is greater than or equal to 1 in 150 at term (between 1 in 2 and 1 in 150). The following criteria must be met:
Inclusions: 
• A higher chance result for T21 or a joint higher chance result for T18 and T13 from the NHS combined test
• A higher chance result for T21 (and T18 following implementation) from the NHS quadruple test
• In both singleton and twin pregnancies
• Up to 21 weeks and 6 days (21+6) of pregnancy
• In an in-vitro fertilisation (IVF) or donor egg pregnancy
Exclusions: 
• A lower chance result for T21, T18 or T13 from the NHS combined or NHS quadruple test
To note: where there is a history of a previous pregnancy with T21, T18 or T13, please request the test for T21, T18, T13 aneuploidy testing – NIPT (previous history) (using code R445) where the patient meets the criteria.
• In higher multiple pregnancies (triplets or more)
• After 21+6 weeks of pregnancy
• Blood transfusion in the last 4 months (whole blood or plasma)
• Bone marrow or organ transplant recipient
• Stem cell therapy
• Vanished twin pregnancy (an empty second pregnancy sac or a second pregnancy sac containing non-viable fetus)
• Maternal T21 or mosaicism of T21, T18 or T13
• Maternal balanced translocation involving chromosomes 21, 18 or 13
Eligibility criteria requiring discussion
Contact the laboratory before taking a NIPT sample when there is a history of:
• Maternal cancer in the current pregnancy.
• Immunotherapy in the current pregnancy using medication, such as Neupogen, which introduces additional genomic material into the bloodstream.
• Any other maternal chromosomal condition other than T21, T18 or T13.

Commissioning group

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Overlapping idications

• R401 Common aneuploidy testing – prenatal, should be used where amniocentesis or Chorionic villus sampling (CVS) is taken • R445 T21, T18 and T13 aneuploidy testing – NIPT (previous history), should be used where any previous pregnancy was reported full trisomy of chromosomes 13, 18 or 21.

Address for samples/request forms

Contact with queries

Supporting documents

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Education resources

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Turn around times

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Request form download

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Consent record

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Sample requirements

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