{ "resourceType" : "Bundle", "id" : "NonWGSScenario3-FetusAsProband-Example-FetusA", "meta" : { "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/BundleMessage"] }, "language" : "en", "identifier" : { "system" : "https://tools.ietf.org/html/rfc4122", "value" : "38cd0cd0-3a64-4181-a7b9-3f0568315f23" }, "type" : "message", "timestamp" : "2026-06-15T09:00:00Z", "entry" : [{ "fullUrl" : "urn:uuid:4a73bd70-33f0-4b81-930a-e815658fee0f", "resource" : { "resourceType" : "MessageHeader", "id" : "4a73bd70-33f0-4b81-930a-e815658fee0f", "language" : "en", "text" : { "status" : "generated", "div" : "

Generated Narrative: MessageHeader 4a73bd70-33f0-4b81-930a-e815658fee0f

event: event: O21 (OML - Laboratory order)

Destinations

-NameEndpointReceiver
*National Genomic Medicine Servicehttps://api.service.nhs.uk/GMSNORTH WEST GLH LED BY MANCHESTER UNIVERSITY NHS FOUNDATION TRUST (Identifier: ODS Organisation Code/699X0)

sender: Kingston Hospital (Identifier: ODS Organisation Code/RAX01)

Sources

-Endpoint
*https://example.org/fhir/SendingSystem

focus: ServiceRequest Common aneuploidy testing

" }, "eventCoding" : { "system" : "http://terminology.hl7.org/CodeSystem/v2-0003", "code" : "O21" }, "destination" : [{ "name" : "National Genomic Medicine Service", "endpoint" : "https://api.service.nhs.uk/GMS", "receiver" : { "identifier" : { "system" : "https://fhir.nhs.uk/Id/ods-organization-code", "value" : "699X0" }, "display" : "NORTH WEST GLH LED BY MANCHESTER UNIVERSITY NHS FOUNDATION TRUST" } }], "sender" : { "identifier" : { "system" : "https://fhir.nhs.uk/Id/ods-organization-code", "value" : "RAX01" }, "display" : "Kingston Hospital" }, "source" : { "endpoint" : "https://example.org/fhir/SendingSystem" }, "focus" : [{ "reference" : "urn:uuid:d302e6f8-c09f-4153-a669-8fa6b3a95d52" }] } }, { "fullUrl" : "urn:uuid:849705be-9ed3-499c-ab8a-5579dd02d305", "resource" : { "resourceType" : "Patient", "id" : "849705be-9ed3-499c-ab8a-5579dd02d305", "language" : "en", "text" : { "status" : "generated", "div" : "

Generated Narrative: Patient 849705be-9ed3-499c-ab8a-5579dd02d305

FETUS A MUM Unknown, DoB Unknown ( urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24#Fetus-A-8955713713)

Extension UK Core Patient Fetal Statuspotential-for-live-birth
" }, "extension" : [{ "url" : "http://hl7.org/fhir/6.0/StructureDefinition/extension-Patient.fetalStatus", "valueCode" : "potential-for-live-birth" }], "identifier" : [{ "system" : "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value" : "Fetus-A-8955713713", "assigner" : { "identifier" : { "system" : "https://fhir.nhs.uk/Id/ods-organization-code", "value" : "RAX" } } }], "name" : [{ "family" : "MUM", "given" : ["FETUS A"] }], "gender" : "unknown" } }, { "fullUrl" : "urn:uuid:d302e6f8-c09f-4153-a669-8fa6b3a95d52", "resource" : { "resourceType" : "ServiceRequest", "id" : "d302e6f8-c09f-4153-a669-8fa6b3a95d52", "language" : "en", "text" : { "status" : "extensions", "div" : "

Generated Narrative: ServiceRequest d302e6f8-c09f-4153-a669-8fa6b3a95d52

uk/England/StructureDefinition/Extension-Genomic-Patient-Role: Proband

uk/England/StructureDefinition/Extension-GenomicTest-ParticipantCount: 2

Extension UK Core Coverage: NHS England

requisition: https://fhir.leedssth.nhs.uk//Id/grouptestId/RR-REQ20262701

status: Active

intent: Order

category: Prenatal diagnosis

priority: Urgent

code: Common aneuploidy testing

subject: FETUS A MUM Unknown, DoB Unknown ( urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24#Fetus-A-8955713713)

authoredOn: 2023-09-25

requester: PractitionerRole: specialty = Clinical Genetics; telecom = ph: 02085467711,Hazel.smith12@nhs.net,clinicalgeneticskingston@nhs.net,fetalmedicinekingston@nhs.net,gptestpracticekingston@nhs.net

performer: Identifier: ODS Organisation Code/699N0

reasonCode: Common aneuploidy testing - prenatal

supportingInfo: Observation Family history of consanguinity

specimen: Specimen: identifier = https://fhir.add.nhs.uk/Id/specimenId#RGT70280930; status = unavailable; type = Chorionic villi specimen

note:

Samples are to be provided at a later date\nFree text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder\nTO BE RESOLVED VIA PDS TO BE RESOLVED VIA PDS (Mother):

\n
    \n
  • No family history of relevant testing
    • \n
  • Is the testing for a fetal loss from 24+0 or more weeks of gestation?: Negative
    • \n
  • Ethnicity: unknown
    • \n
  • Pregnancy: Assisted conception; Gestational age 87 day; Estimated date of delivery 2024-05-01
    • \n
  • No history of procedure: Transplant
    • \n
  • First Trimester Anomalies?: Negative; First trimester
    • \n
  • In vitro fertilisation (Woman`s own egg)
    • \n
\n
" }, "extension" : [{ "url" : "https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role", "valueCodeableConcept" : { "coding" : [{ "system" : "https://fhir.nhs.uk/CodeSystem/patient-role-genomics", "code" : "proband", "display" : "Proband" }] } }, { "url" : "https://fhir.nhs.uk/England/StructureDefinition/Extension-GenomicTest-ParticipantCount", "valueInteger" : 2 }, { "url" : "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept" : { "coding" : [{ "system" : "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code" : "nhs-england", "display" : "NHS England" }] } }], "requisition" : { "system" : "https://fhir.leedssth.nhs.uk//Id/grouptestId", "value" : "RR-REQ20262701", "assigner" : { "identifier" : { "system" : "https://fhir.nhs.uk/Id/ods-organization-code", "value" : "RR8" } } }, "status" : "active", "intent" : "order", "category" : [{ "coding" : [{ "system" : "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", "code" : "prenatal-diagnosis", "display" : "Prenatal diagnosis" }] }], "priority" : "urgent", "code" : { "coding" : [{ "extension" : [{ "url" : "https://fhir.nhs.uk/England/StructureDefinition/Extension-GenomicTestCode-Version", "valueDecimal" : 1.0 }], "system" : "https://fhir.nhs.uk/CodeSystem/England-DigitalGenomicTestServices", "code" : "GT1133", "display" : "Common aneuploidy testing" }] }, "subject" : { "reference" : "Patient/849705be-9ed3-499c-ab8a-5579dd02d305", "identifier" : { "system" : "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value" : "Fetus-A-8955713713", "assigner" : { "identifier" : { "system" : "https://fhir.nhs.uk/Id/ods-organization-code", "value" : "RAX" } } } }, "authoredOn" : "2023-09-25", "requester" : { "reference" : "PractitionerRole/01f81774-4153-4c18-a7df-1c4cdbba4f2f" }, "performer" : [{ "identifier" : { "system" : "https://fhir.nhs.uk/Id/ods-organization-code", "value" : "699N0" } }], "reasonCode" : [{ "coding" : [{ "extension" : [{ "url" : "https://fhir.nhs.uk/England/StructureDefinition/Extension-GenomicTestCode-Version", "valueDecimal" : 1.0 }], "system" : "https://fhir.nhs.uk/CodeSystem/England-DigitalGenomicTestServices", "code" : "TP289", "display" : "Common aneuploidy testing - prenatal" }] }], "supportingInfo" : [{ "reference" : "Observation/2a6e7070-5ea2-4ef3-96b6-607b474fcc0b" }], "specimen" : [{ "reference" : "Specimen/9fa291ba-d9a4-46a9-87e5-486bcaae47fa" }], "note" : [{ "text" : "Samples are to be provided at a later date\nFree text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder\nTO BE RESOLVED VIA PDS TO BE RESOLVED VIA PDS (Mother):\n - No family history of relevant testing\n - Is the testing for a fetal loss from 24+0 or more weeks of gestation?: Negative\n - Ethnicity: unknown\n - Pregnancy: Assisted conception; Gestational age 87 day; Estimated date of delivery 2024-05-01\n - No history of procedure: Transplant\n - First Trimester Anomalies?: Negative; First trimester\n - In vitro fertilisation (Woman`s own egg)" }] } }, { "fullUrl" : "urn:uuid:01f81774-4153-4c18-a7df-1c4cdbba4f2f", "resource" : { "resourceType" : "PractitionerRole", "id" : "01f81774-4153-4c18-a7df-1c4cdbba4f2f", "language" : "en", "text" : { "status" : "generated", "div" : "

Generated Narrative: PractitionerRole 01f81774-4153-4c18-a7df-1c4cdbba4f2f

practitioner: Dr. Lois Lane (Identifier: https://fhir.nhs.uk/Id/sds-user-id/3208835210)

organization: Kingston Hospital (Identifier: ODS Organisation Code/RAX01)

specialty: Clinical Genetics

telecom: ph: 02085467711, Hazel.smith12@nhs.net, clinicalgeneticskingston@nhs.net, fetalmedicinekingston@nhs.net, gptestpracticekingston@nhs.net

" }, "practitioner" : { "identifier" : { "system" : "https://fhir.nhs.uk/Id/sds-user-id", "value" : "3208835210" }, "display" : "Dr. Lois Lane" }, "organization" : { "identifier" : { "system" : "https://fhir.nhs.uk/Id/ods-organization-code", "value" : "RAX01" }, "display" : "Kingston Hospital" }, "specialty" : [{ "coding" : [{ "system" : "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode", "code" : "311", "display" : "Clinical Genetics" }] }], "telecom" : [{ "system" : "phone", "value" : "02085467711" }, { "system" : "email", "value" : "Hazel.smith12@nhs.net" }, { "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", "valueString" : "reporting" }], "system" : "email", "value" : "clinicalgeneticskingston@nhs.net" }, { "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", "valueString" : "reporting" }], "system" : "email", "value" : "fetalmedicinekingston@nhs.net" }, { "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/contactpoint-comment", "valueString" : "reporting" }], "system" : "email", "value" : "gptestpracticekingston@nhs.net" }] } }, { "fullUrl" : "urn:uuid:9fa291ba-d9a4-46a9-87e5-486bcaae47fa", "resource" : { "resourceType" : "Specimen", "id" : "9fa291ba-d9a4-46a9-87e5-486bcaae47fa", "language" : "en", "text" : { "status" : "generated", "div" : "

Generated Narrative: Specimen 9fa291ba-d9a4-46a9-87e5-486bcaae47fa

identifier: https://fhir.add.nhs.uk/Id/specimenId/RGT70280930

status: Unavailable

type: Chorionic villi specimen

subject: FETUS A MUM Unknown, DoB Unknown ( urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24#Fetus-A-8955713713)

request: ServiceRequest Common aneuploidy testing

" }, "identifier" : [{ "system" : "https://fhir.add.nhs.uk/Id/specimenId", "value" : "RGT70280930" }], "status" : "unavailable", "type" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "258565009", "display" : "Chorionic villi specimen" }] }, "subject" : { "reference" : "Patient/849705be-9ed3-499c-ab8a-5579dd02d305", "identifier" : { "system" : "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value" : "Fetus-A-8955713713", "assigner" : { "identifier" : { "system" : "https://fhir.nhs.uk/Id/ods-organization-code", "value" : "RAX" } } } }, "request" : [{ "reference" : "ServiceRequest/d302e6f8-c09f-4153-a669-8fa6b3a95d52" }] } }, { "fullUrl" : "urn:uuid:2a6e7070-5ea2-4ef3-96b6-607b474fcc0b", "resource" : { "resourceType" : "Observation", "id" : "2a6e7070-5ea2-4ef3-96b6-607b474fcc0b", "language" : "en", "text" : { "status" : "generated", "div" : "

Generated Narrative: Observation 2a6e7070-5ea2-4ef3-96b6-607b474fcc0b

status: Final

code: Family history of consanguinity

subject: FETUS A MUM Unknown, DoB Unknown ( urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24#Fetus-A-8955713713)

effective: 2023-09-25

value: Negative

" }, "status" : "final", "code" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "160475008", "display" : "Family history of consanguinity" }] }, "subject" : { "reference" : "Patient/849705be-9ed3-499c-ab8a-5579dd02d305", "identifier" : { "system" : "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value" : "Fetus-A-8955713713", "assigner" : { "identifier" : { "system" : "https://fhir.nhs.uk/Id/ods-organization-code", "value" : "RAX" } } } }, "effectiveDateTime" : "2023-09-25", "valueCodeableConcept" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "260385009", "display" : "Negative" }] } } }, { "fullUrl" : "urn:uuid:6473db02-3c45-42f0-9b8c-9d063753f86b", "resource" : { "resourceType" : "RelatedPerson", "id" : "6473db02-3c45-42f0-9b8c-9d063753f86b", "language" : "en", "text" : { "status" : "generated", "div" : "

Generated Narrative: RelatedPerson 6473db02-3c45-42f0-9b8c-9d063753f86b

identifier: NHS Number/9449308322

patient: FETUS A MUM Unknown, DoB Unknown ( urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24#Fetus-A-8955713713)

relationship: natural mother of fetus

name: TO BE RESOLVED VIA PDS TO BE RESOLVED VIA PDS

gender: Unknown

" }, "identifier" : [{ "system" : "https://fhir.nhs.uk/Id/nhs-number", "value" : "9449308322" }], "patient" : { "reference" : "Patient/849705be-9ed3-499c-ab8a-5579dd02d305", "identifier" : { "system" : "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value" : "Fetus-A-8955713713", "assigner" : { "identifier" : { "system" : "https://fhir.nhs.uk/Id/ods-organization-code", "value" : "RAX01" } } } }, "relationship" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/v3-RoleCode", "code" : "NMTHF", "display" : "natural mother of fetus" }] }], "name" : [{ "family" : "TO BE RESOLVED VIA PDS", "given" : ["TO BE RESOLVED VIA PDS"] }], "gender" : "unknown" } }] }