Table 2 Overview of study instruments used in the PALM study for children aged 12 months to 7 years
Data collection method | Time point | Instrument | Completed by | Delivery and time |
|---|---|---|---|---|
Outcome 1: To compare the developmental, social-emotional and health status of children with a prenatal diagnosis of a prenatal copy number variant with those children with no copy number variant detected on chromosomal microarray. | ||||
Quantitative survey | Children aged 12 months or older. | Brief Infant-Toddler Social and Emotional Assessment (BITSEA) [20] | Parent | Online or hard copy. 30-40 minutes total |
Strengths and Difficulties Questionnaire (SDQ) [21] | Parent | |||
Maternal Postnatal Attachment Questionnaire (MPAS) [22] | Parent | |||
Vulnerable Child Scale (VCS) [23] | Parent | |||
Profile of Mood States (POMS) [24] | Parent | |||
Parent Sense of Competence Scale (PSOC) [25] | Parent | |||
Golombok Rust Inventory of Marital State (GRIMS) [26] | Parent | |||
Disclosure of Results to Others [27] | Parent | |||
Secrecy about Results [28] | Parent | |||
Parent | ||||
Revised Scale of Ambiguity Tolerance [31] | Parent | |||
Genetic essentialism, general understanding of genetics and accuracy of understanding of results [32, 33] | Parent | |||
Patient Health Questionnaire depression scale (PHQ-8) | Parent | |||
Children with Special Health Care Needs (CSHCN) screener [34] | Parent | |||
Outcome 2: To measure the impact of a prenatal diagnosis of a copy number variant on maternal perceptions of their child. | ||||
Quantitative survey | ‘Younger cohort’ children who are 12-30 months old at the time of enrolment | Ages and Stages Questionnaire-3 | Parent | Online or hard copy. 20-30 minutes. |
Ages and Stages Questionnaire Social Emotional-2 | Parent | |||
Quantitative survey | ‘Older cohort’ children who are 2 years 7 months to 7 years 7 months at the time of enrolment | The Vineland-II Adaptive Behavior Scale (VABS) | Parent | Online or hard copy. 20-60 minutes |
Psychologist assessment | Wechsler Preschool and Primary Scale of Intelligence IV (WPPSI-IV) | Psychologist | In person. 20-60 minutes | |
Clinical assessment | Clinical assessment by study pediatrician: measurements of height, weight, and head circumference; history and physical examination | Paediatrician | In person. 20-60 minutes | |
Outcome 3: The frequency of copy number variants that have a change in classification after reanalysis after ≥2 years will be presented in a descriptive analysis. For the participants in the reanalysis group, an additional letter will be sent to them with the results of the updated analysis. | ||||
Clinical standard laboratory software and databases in use during 2021-2022 | Children who were prenatally diagnosed with a copy number variant of uncertain or unknown significance | Affymetrix Chromosome Analysis Suite (ChAS) software | Cytogenetics Laboratory | n/a |
DatabasE of Chromosomal Imbalance and Phenotype in Humans using Emsembl Resources (DECIPHER) | Cytogenetics Laboratory | |||
International Standards for Cytogenomic Arrays (ISCA) database | Cytogenetics Laboratory | |||
Online Mendelian Inheritance in Man (OMIM) | Cytogenetics Laboratory | |||