Congenital anomalies potentially requiring surgical intervention Genetic Diseases
Conditions
Interventions
Participants can be recruited antenatally or postnatally. Once the congenital anomaly has been diagnosed, the parents will be approached and given a Participant Information Leaflet. When a parent cons
Sponsors
University of Bristol
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Patients must be: 1. Fetus (2nd and 3rd trimester) or aged between 0 months and 5 years of age 2. Diagnosed with CAPRS The person giving consent must: 3. Have parental responsibility for the participant Biological mothers and fathers: 4. Have a biological child enrolled in PEARL 5. Have capacity to consent
Exclusion criteria
Exclusion criteria: 1. Unable to give informed consent and/or assent 2. Main residence is outside the UK
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. Aggregated routinely collected clinical data from review of medical notes: operation details, PICU/NICU, HeartSuite, Hospital episode statistics (HES), HER, Magnetic Resonance Imaging (MRI), Computerised tomography (CT), Echocardiogram (ECHO), ultrasounds. Assessed at baseline and then yearly for 5 years. 2. Phenotypic and genetic analysis of biomaterials that would normally be discarded during surgery as well as blood, urine and stool samples from patients and their biological parents. Biological mothers will provide baseline blood and urine samples, and optional amniotic fluid sample (if patient is recruited antenatally). Biological fathers will provide baseline blood and urine samples. Patients will provide pre-operative blood, urine, stool and tissue when available, on arrival to PICU: blood and urine samples, 24 hours post-surgery: blood and urine samples. | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Demographics collected via questionnaires at baseline 2. Maternal and paternal demographics and information on potentially modifiable risk factors associated with CAPRS, assessed using questionnaires developed specifically for this study and accessing relevant pregnancy medical records at baseline. 3. Short, medium and long-term clinical outcomes in patients born with CAPRS, monitored by reviewing the patient’s medical notes yearly for 5 years. 4. NHS resource use, monitored by reviewing the patient’s medical notes yearly for 5 years and using questionnaires developed specifically for this study 5. Patient’s and parents’ quality of Life (QoL) measured using PEDSQL questionnaires 12, 24, 36 and 48 months post-delivery (for patients recruited antenatally) or post-consent (for patients recruited postnatally). 6. Genetic and phenotypical characterisation of patients and their mothers and fathers. 7. MicroRNA analyses and isolation of progenitor cells when sufficient tissue, plasma and serum are available | — |
Countries
England, United Kingdom
Contacts
Public ContactMai Baquedano
Outcome results
None listed