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Table 2 Overview of study instruments used in the PALM study for children aged 12 months to 7 years

From: Study protocol: childhood outcomes of fetal genomic variants: the PrenatAL Microarray (PALM) cohort study

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
Decision Satisfaction Scale [29, 30] 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