None listed
Conditions
Brief summary
To establish and follow up a Victorian cohort of children who had a prenatal diagnosis of a genomic copy number variant from 2013-2019. Children aged 12 months to 7 years will be assessed for developmental, social-emotional and health outcomes using validated, age-appropriate measures. Objectives: 1. To compare the developmental, social-emotional and health status of children with prenatal CNVs to children with normal prenatal CMA results. 2. To measure the impact of a prenatal diagnosis of a VUS on parental perceptions of their child. 3. To determine the proportion of prenatally-ascertained VUS that are reclassified as benign or pathogenic after 2 or more years.
Interventions
1) Women who have undergone a prenatal chromosomal microarray during pregnancy and have a live child will be asked to complete 3 parent completed questionnaires - telephone, online or hardcopy, from 15-30 minutes each, can be completed at single time, or over several months as preferred. These 3 questionnaires are all completed one time only.
2) Psychologist assessment of participants whose child is aged 2 years 7 months or older at the time of recruitment - Wechsler Preschool and Primary School
1) Women who have undergone a prenatal chromosomal microarray during pregnancy and have a live child will be asked to complete 3 parent completed questionnaires - telephone, online or hardcopy, from 15-30 minutes each, can be completed at single time, or over several months as preferred. These 3 questionnaires are all completed one time only. 2) Psychologist assessment of participants whose child is aged 2 years 7 months or older at the time of recruitment - Wechsler Preschool and Primary School Intelligence Score (WPPSI-IV). The WPPSI-IV takes approximately 30 minutes to complete. This assessment is completed one time only. 3) A one off clinical review by study paediatrician (30-45 minutes) for history and examination No biosamples will be collected, no painful or invasive procedures for child
Sponsors
Murdoch Children's Research Institute
Eligibility
Sex/Gender
All
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
Women resident in Victoria with a prenatal chromosomal microarray (CMA) record in the Victorian Prenatal Diagnosis Data collection (VPDD) between 2013 and 2019, and who have a live child from that pregnancy.
Exclusion criteria
Non-English speaking women Prenatal diagnosis performed in a multiple pregnancy No live child from the index pregnancy Unable to give informed consent Not resident in VIC Unable to complete parental questionnaire
Outcome results
None listed