Recommended reporting formats – GOV.UK

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Laboratory reports can be simplified by taking into account conditions that may be encountered in the prenatal screening program. These will include:

  • those who have no signs of hemoglobin variant or thalassemia
  • carriers of a variant of hemoglobin
  • carriers of thalassemia
  • homozygous and heterozygous compound conditions

Word forms in the report may differ depending on local testing laboratory protocols. Commenting on testing the baby’s biological father may not be necessary in all laboratories if alternative protocols are used by the testing service to initiate such requests.

Comments to be included in reports are displayed as bullets. The other text is an invitation to the laboratory and should not be reported verbatim.

Care should be taken when reporting coexisting conditions to ensure that all risks to the baby are considered when considering the results of both birth parents.

Report Format 0

Use report format 0 for samples screened by RBCs only (low prevalence areas)

Report red blood cell counts with comments:

  • no signs of thalassemia

  • not tested for hemoglobin variants as a familial questionnaire (FOQ) indicates that both biological parents are of low risk family origin

  • baby’s biological father test not required

Report Format 1

Use report format 1 for no anomalies detected.

Indicate red blood cell indices and other results, if applicable, with comments:

Report Format 2

Use report format 2 for carriers of the following hemoglobin variants: HbS, HbC, HbD, HbE, HbOArab and Hb Lepore.

Indicate red blood cell indices, specific sickle cell test, and other results, if applicable, with comments:

  • results consistent with the carrier of Hb’V ‘(Hb AV)

Where “V” is the hemoglobin variant detected. When the variant is HbS, the term “sickle cell anemia carrier” is preferred. When indicated, comment on the possibility of coexistence of thalassemia. Consider the possibility of0 thalassemia when MCH 0.

  • recommended biological father test

Report format 3a

Use report format 3a for carriers of hemoglobin variants for whom testing of the baby’s biological father is not required.

Indicate red blood cell counts, specific sickle cell test and other results, if applicable, with comments:

  • results consistent with an Hb’V ‘(Hb AV) carrier of no known clinical significance

Where “V” is the hemoglobin variant detected. If coexisting α0 thalassemia is suspected (MCH FOQ indicates that both biological parents are of familial origin at high risk for α0 thalassemia, the conclusion should be changed to recommend testing on the baby’s biological father.

  • baby’s biological father test not required

3b report format

The 3b report format is intended for carriers of hemoglobin variants for whom testing of the baby’s biological father is required.

Indicate red blood cell counts, specific sickle cell test and other results, if applicable, with comments:

  • results consistent with the carrier of Hb’V ‘(Hb AV)

Where “V” is the hemoglobin variant detected. Report format 3b should be used for variants of clinical significance (not covered by report format 2) or variants of unknown clinical significance. If the variant is not identified, the recommended formulation carries an unidentified variant. Caution is advised in naming hemoglobin variants, unless definitive techniques have been used for their identification. When indicated, comment on the possibility of coexistence of thalassemia. Consider the possibility of0 thalassemia when MCH 0.

  • testing of the baby’s biological father recommended.

Report format 4a

Use report format 4a for thalassemia carriers.

Report red blood cell counts and other results, if applicable, with comments:

  • results consistent with β carrier of thalassemia

Commentary on the possibility of coexisting0 thalassemia when there are high-risk familial origins for α0.

  • recommended biological father test

4b report format

Use report format 4b for potential carriers of thalassemia.

Report red blood cell counts and other results, if applicable, with comments:

  • results consistent with a possible carrier of β thalassemia

Commentary on the possibility of coexisting0 thalassemia when there are high-risk familial origins for α0. and the MCH is

  • recommended biological father test

Report format 5a

Use report format 5a for HPFH.

Report red blood cell counts and other results, if applicable, with comments:

Report format 5b

Use report format 5b for carriers of thalassemia.

Report red blood cell counts and other results, if applicable, with comments:

  • results consistent with δ / β carrier of thalassemia.

Comment on the possibility of coexisting0 thalassemia if there is a high risk family origins for α0.

  • testing of the baby’s biological father recommended.

Report format 6a

Use the 6a report format to0 carriers of thalassemia when the biological mother and the biological father of the baby are of family origin at high risk for α0.

Report red blood cell counts and other results, if applicable, with comments:

  • results consistent with a possible carrier of α thalassemia and / or iron deficiency

  • FOQ indicates that both biological parents are of familial origin at high risk for α0

  • recommended biological father test

Report format 6b

Use the 6b report format for HbH disease.

Report red blood cell counts and other results, if applicable, with comments:

  • results consistent with HbH disease

  • test of the biological father of the baby recommended if it is of family origin at high risk for α0 thalassemia

Report format 7a

Use report format 7a for possible α carriers of thalassemia when one of the biological parents is not at high risk α0familial origins of thalassemia (MCH

Report red blood cell counts and other results, if applicable, with comments:

  • results consistent with a possible carrier of α thalassemia and / or iron deficiency

  • testing of the baby’s biological father is not required as one or both biological parents are of low risk family origin for α0 thalassemia

Report format 7b

Use report format 7b for possible carriers of thalassemia (MCH 25 to 27pg)

Report red blood cell counts and other results, if applicable, with comments:

Report format 8

Use report format 8 for homozygous and heterozygous compound conditions.

Indicate erythrocyte indices, sickle cell solubility test and other results, if applicable, with comments:

  • results consistent with Sickle cell anemia (Hb SS), Hb SC disease, Hb SD disease, Hb SE disease, Hb SOArab disease, Hb S / Lepore, Sickle / β thalassemia, variant Hb / β thalassemia

Or adapt this format appropriately to accommodate the hemoglobins present. Potential clinically significant conditions should be referred to a consulting hematologist if they are not already being followed up. Commentary on the risk of coexistence0 thalassemia if MCH 0.

  • recommended biological father test

Guidance on Sample Transfer for DNA

See the Reference Guidelines for Prenatal Screening Specimen worksheet for a summary of the main combinations of genetic risks that require prenatal screening actions, according to prenatal screening recommendations, and shows which cases require specimen transfer for additional studies by DNA analysis.

For other combinations of hemoglobinopathies, consult the results for expert opinion.


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