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The aim of the pathway is:
This advice should be viewed in association with the guidance regarding Blood Product Requirements for Cardiac Surgery and Catheter lab procedures.
This pathway should be used by healthcare professionals involved in infants with congenital heart disease.
Some patients with congenital heart disease (CHD), particularly those with conotruncal and aortic arch defects or right aortic arch, may have a deletion of chromosome 22q11. This may or may not be associated with various dysmorphic features and T-cell immunodeficiency .
Those with a T-cell immunodeficiency and are at risk of developing “transfusion-associated-graft-versus-host-disease” if they receive non-irradiated blood, as a result of engrafting of donor lymphocytes present in the transfused blood. Therefore further investigations of T- cell function are required (see appendix 1) in children with a proven micro-deletion of 22q11 to assess whether they are or are not at risk of transfusion-associated-graft-versus-host disease.
There is thus a need for testing (often urgently) of newly referred patients with CHD in order to decide, among other aspects, their need for irradiated blood.
A protocol for the diagnosis of common genetic abnormalities, in particular 22q11 deletion, has been developed for patients with newly diagnosed congenital heart disease. This will include standardised blood sampling for genetic disorders. A single sample of 2-3 ml of blood is taken for:
In addition recommendations are given for the testing of immune function in those found to have 22q11 microdeletion (Appendix 1).
Consultation with Clinical Genetics is always indicated for those patients found to have a genetic abnormality and also with Clinical Immunology for all patients with 22q11 deletion. Contact details are given in appendix 4.
The use of this pathway will be audited after a period of three years and the pathway amended if necessary.
All children presenting to Cardiology, PICU, NICU or remote neonatal units with structural congenital heart disease or those for whom imminent surgery is planned should have the following genetic investigations undertaken after obtaining appropriate consent:
Further genetic investigation will be guided following consultant review and/or review by clinical genetics.
All children with congenital heart disease for whom testing is not urgent and in whom there is a possible genetic cause – i.e. presence of a cardiac anomaly as well as learning difficulties, autism, abnormal growth pattern, dysmorphic features, associated congenital malformation(s) of other organs or a family history of 22q11 deletion, velocardiofacial syndrome, diGeorge syndrome, consanguinity or cardiac /arch anomaly should be referred to the Clinical Genetics team. They should also have the following samples collected for SNP Array and stored for subsequent analysis ensuring the clinical features are noted on the request form. Appropriate consent should be obtained (see appendix 2).
Further genetic investigation will be guided following Clinical Genetics Consultant review.
CLINICAL GENETICS REVIEW
RESULTS OF GENETICS INVESTIGATIONS
Any child found to have a 22q11 micro-deletion should have lymphocyte subsets sent for quantitative assessment of lymphocyte T-cell numbers prior to any blood product transfusion, if possible. Results are available within 2–3 working days.
All patients with 22q11 micro-deletion should be discussed with the duty Infectious Diseases & Immunology Consultant as soon as possible, with a view to arranging review after lymphocyte subset results are available.
Red blood cells
Irradiation inactivates donor lymphocytes and is the only known method of preventing “Transfusion-Associated-Graft-versus-Host Disease” (TaGvHD), a rare but potentially fatal complication of blood transfusion.
If transfusion might be necessary for cardiac or other interventional or surgical procedures, blood must be irradiated and be passed as CMV-negative before being given to the following three groups:
As with older children, the need for irradiated blood should be discussed with the immunologist if there is a question regarding their need for irradiated blood.
CMV-negative blood products should be given to all patients up to 28 days of age or until they reach 28 days post their estimated date of delivery (EDD) whichever is the latest.
The provision of CMV-negative, irradiated blood is resource- intensive and costly, prolongs the preparation time and leads to increased blood wastage. The local Blood Transfusion Service (BTS) provides guidance1 regarding the appropriate utilisation of irradiated blood. Despite this, under current practice, many patients who do not have the T-Cell immune-deficiency associated with 22q11 deletion unnecessarily receive irradiated blood.
Other blood products
As platelets are routinely irradiated irrespective of immune function status of the recipient and as fresh frozen plasma and plasma products (e.g. anti-D, Albumin, immunoglobulin) do not need to be irradiated, consideration of irradiation applies only to blood itself, both fresh and packed cells.
NOTE: irradiated blood products must be used within 24 hours of irradiation.1
If you would like a baby seen urgently i.e. within 24-48hours, please phone the Medical Genetics Reception on 0141 354 9201 and ask for the Duty Consultant Geneticist. Leave the relevant patient details and please state how quickly you would like the baby to be seen.
The Paediatric Cardiac Link Medical Genetics Consultant is Dr Ruth McGowan who can be contacted on:
Telephone: 0141 354 9246
Relevant contact details:
Greater Glasgow & Clyde
All enquiries: 0141 354 9300
Clinical Genetics: 0131 537 1061/1116
Clinical Genetics: 01224 552120
This form should be completed for all patients who have special requirements for blood components. A copy should be sent to Blood Bank and a copy filed at the front of the patients clinical notes. It is the responsibility of clinicians to update Blood Bank on any changes to special requirements. A minimum annual review is required.
Greater Glasgow and Clyde Blood Transfusion Special Requirements Policy.
Useful links (Staffnet links - access only from devices connected to the NHSGGC Network):
Last reviewed: 17 September 2019
Next review: 30 September 2021
Author(s): M Harvey, R Hague, AM Heuchan, M Campbell, B Knight, A Goldie, R McGowan, E Chalmers, C McKie, E Hanlon, M Davidson
Approved By: PICU Guideline group & Cardiac Faculty
Reviewer Name(s): Responsible Clinical Directors: P Noonan , M Campbell