Childhood outcomes of fetal genomic variants: the PrenatAL Microarray (PALM) cohort

Not Applicable

Recruiting

• Conditions: Fetal genomic copy number variants; Human Genetics and Inherited Disorders - Other human genetics and inherited disorders; Reproductive Health and Childbirth - Fetal medicine and complications of pregnancy

• Registration Number: ACTRN12620000446965
• Lead Sponsor: Murdoch Children's Research Institute

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2020-04-06
• Last Update Posted: 7 March 2022

Recruitment & Eligibility

• Status: Recruiting
• Sex: Female
• Target Recruitment: 350

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

Study & Design

• Study Type: Observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Intellectual functioning as assessed by the Wechsler Preschool and Primary Scale of Intelligence IV (WPPSI-IV) <br>[Single assessment between the ages of 2 years 6 months to 7 years 7 months, at the discretion of researcher and participants.];Adaptive and social functioning as assessed by the Vineland-II Adaptive Behavior Scale (VABS)[Single time point between the ages of 2 years 7 months to 7 years 7 months at the discretion of researcher and participants];Maternal perceptions of child health, behaviour and development as assessed by the Brief Infant-Toddler Social and Emotional Assessment (BITSEA) questionnaire[Single time point when child is aged 12 months or more, at the discretion of researcher and participants]

Secondary Outcome Measures

Name	Time	Method
The proportion of prenatally-ascertained variants of uncertain significance that are reclassified as benign or pathogenic following reanalysis 2 or more years since initial diagnosis. This will be a composite outcome.<br><br>This will be done using the clinical standard laboratory software and resources in use during 2020-21. This includes use of platform specific software (such as Affymetrix ChAS), literature review and the DECIPHER [http://decipher.sanger. ac.uk/.] and ISCA [https://www.iscaconsortium.org/] databases. We will compare the classifications given at the time of issue of the prenatal report and the current classifications in 2020-21 according to the issuing laboratory’s protocols. [At least 2 years after the index prenatal diagnosis report, at the discretion of researcher. ]