Birth Defects Reporting - STU1
0.1.2 - draft

Birth Defects Reporting - STU1, published by HL7 International / Public Health. This guide is not an authorized publication; it is the continuous build for version 0.1.2 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/fhir-birthdefectsreporting-ig/ and changes regularly. See the Directory of published versions

## Examples

# Example Scenarios

Below are three example scenarios potentially relevant for birth defect reporting depending on jurisdictional reporting requirements. These include reporting at the time of birth, reporting later in life and reporting birth defects associated with a loss of pregnancy.

# Report from an Ambulatory Clinic

Gene Austin Wellington is a male infant born on 4/28/2020 to parents Sara and Adam. At several months of age, Gene is seen by his pediatrician at the Westside Clinic in his hometown of Ann Arbor Michigan. Based in part on information from his parents about feeding difficulties, the provider suspects a birth defect and orders a whole exome sequence. The results confirm that Gene is missing a small portion of chromosome 12 and on 7/15/2020 the provider documents 12q14 microdeletion as a condition on the patient's chart. This condition is reportable in Michigan as a birth defect and a Birth defects Outpatient Registry report is generated by the provider's EHR and submitted to the state birth defects registry program. The FHIR bundle contains resources of types:

- MessageHeader (for the outpatient report)
- Organization (for the Westside Clinic as the submitter)
- Patient (for Gene)
- RelatedPerson (for Sara)
- RelatedPerson (for Adam)
- Condition (for the 12q14 microdeletion diagnosis)
- Procedure (for the whole exome sequencing confirmatory test)
- Observation (infant living)
- Observation (mother's education level)
- Observation (mother's alcohol use during pregnancy)
- Observation (father's education level)
- DiagnosticReport (Diagnostic Report - CBC panel)
- DiagnosticReport (Diagnostic Report - Diagnostic Genetic Test Result)

# Report from a Birthing Facility

Melanie Aurora Boucher is a female born at Ann Arbor General Hospital on 8/8/2020 to parents Miranda and Gordon. The birthing provider immediately notices the presence of a supernumerary toe on Melanie's left foot. Because Miranda has received prenatal care in the hospital's care system, the EHR has documented extension information regarding the pregnancy and delivery, including maternal risks, exposures and drug and alcohol use. The maternal grandmother, Helen Moore, is also documented as a responsible party for Melanie. This condition is reportable in Michigan as a birth defect and a Birth defects Hospital Registry report is generated by the provider's EHR and submitted to the state birth defects registry program. The FHIR bundle contains resources of types:

- MessageHeader (for the hospital report)
- Organization (for the Ann Arbor General Hospital as the submitter)
- Patient (for Melanie)
- RelatedPerson (for Miranda)
- RelatedPerson (for Gordon)
- RelatedPerson (for Helen)
- Condition (for the polydactyly diagnosis)
- Observation (infant living)
- Observation (mother's education level)
- Observation (mother's alcohol use during pregnancy)
- Observation (mother's drug use during pregnancy)
- Observation (mother's exposures during pregnancy)
- Observation (father's education level)
- Patient (Miranda as a patient)
- Observation (mother's primary insurance)
- Observation (mother's number of previous preterm births)
- Observation (mother's number of previous pregnancies)
- Observation (mother's onset of labor)
- Observation (mother's number of previous births now living)
- Observation (mother's number of previous births dead living)
- Observation (mother's delivery weight)
- Observation (mother's pre-pregnancy weight)
- Observation (mother's height)
- Observation (mother's last menstrual period)
- Observation (mother's prenatal care)
- Observation (mother's other pregnancy outcomes)
- Observation (mother's number of previous cesareans)
- Observation (plurality)
- Observation (number of live births this delivery)
- Observation (number of fetal deaths this delivery)
- Observation (pregnancy outcome)
- Observation (admission to NICU)
- Observation (length at birth)
- Observation (weight at birth)
- Observation (APGAR score at 5 minutes)
- Observation (APGAR score at 10 minutes)
- Observation (gestational age and method)
- DiagnosticReport (Diagnostic Report - CBC panel)
- DiagnosticReport (Diagnostic Report - Diagnostic Genetic Test Result)

# Report on a Stillborn

​After experiencing pain and cramping during her pregnancy, Ellen Hallett visits Ann Arbor General Hospital. Unfortunately, while there, she experiences a stillbirth. While an autopsy is not performed, a karyotype is performed which indicates a partial trisomy 18. This condition is documented in the medical record. This condition is reportable in Michigan as a birth defect and a Birth defects Hospital Registry report is generated by the provider's EHR and submitted to the state birth defects registry program. The FHIR bundle contains resources of types:

- ​MessageHeader (for the hospital report)
- Organization (for the Ann Arbor General Hospital as the submitter)
- ​Patient (for the stillborn)
- ​RelatedPerson (for Ellen)
- ​Condition (for the trisomy 18 diagnosis)
- ​Procedure (for the karyotype)
- ​Observation (infant living)
- ​Observation (autopsy performed)
- ​Observation (cause of death)
- ​Observation (location of death)