Evidence map›Paper›PMID 34629048›Full record

ArticleBMC pediatrics2021

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

Lisa Hui, Cecilia Pynaker, Joanne Kennedy, Sharon Lewis, David J Amor, Susan P Walker, Jane Halliday, PALM cohort study group

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
2.3field-weighted citation impact, top 11% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 4 institutions in 1 country.

Lisa HuiReproductive Epidemiology group, Murdoch Children's Research Institute, Flemington Rd, Parkville, VIC, Australia. lisa.hui@mcri.edu.au.ORCID 0000-0002-9720-3562
Cecilia PynakerReproductive Epidemiology group, Murdoch Children's Research Institute, Flemington Rd, Parkville, VIC, Australia.
Joanne KennedyReproductive Epidemiology group, Murdoch Children's Research Institute, Flemington Rd, Parkville, VIC, Australia.
Sharon LewisReproductive Epidemiology group, Murdoch Children's Research Institute, Flemington Rd, Parkville, VIC, Australia.
David J AmorMercy Hospital for Women, Heidelberg, VIC, Australia.
Susan P WalkerDepartment of Obstetrics and Gynaecology, University of Melbourne, Parkville, VIC, Australia.
Jane HallidayReproductive Epidemiology group, Murdoch Children's Research Institute, Flemington Rd, Parkville, VIC, Australia.
PALM cohort study group
The University of Melbourne · AUMercy Hospital for Women · AUMurdoch Children's Research Institute · AUNorthern Health · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe implementation of genomic testing in pregnancy means that couples have access to more information about their child's genetic make-up before birth than ever before. One of the resulting challenges is the management of genetic variations with unclear clinical significance. This population-based study will help to close this critical knowledge gap through a multidisciplinary cohort study of children with and without genomic copy number variants (CNVs) diagnosed before birth. By comparing children with prenatally-ascertained CNVs to children without a CNV, we aim to (1) examine their developmental, social-emotional and health status; (2) measure the impact of prenatal diagnosis of a CNV on maternal perceptions of child health, behavior and development; and (3) determine the proportion of prenatally-ascertained CNVs of unknown or uncertain significance that are reclassified as benign or pathogenic after 2 or more years.

methodsThis study will establish and follow up a cohort of mother-child pairs who have had a prenatal diagnosis with a chromosomal microarray from 2013-2019 in the Australian state of Victoria. Children aged 12 months to 7 years will be assessed using validated, age-appropriate measures. The primary outcome measures will be the Wechsler Preschool and Primary Scale of Intelligence IV (WPSSI-IV) IQ score (2.5 to 7 year old's), the Ages and Stages Questionnaire (12-30 months old), and the Brief Infant- Toddler Social and Emotional Assessment (BITSEA) score. Clinical assessment by a pediatrician will also be performed. Secondary outcomes will be scores obtained from the: Vineland Adaptive Behavior Scale, Maternal Postnatal Attachment Questionnaire, the Vulnerable Child Scale, Profile of Mood States, Parent Sense of Competence Scale. A descriptive analysis of the reclassification rates of CNVs after ≥2 years will be performed. DISCUSSION: This study protocol describes the first Australian cohort study following children after prenatal diagnostic testing with chromosomal microarray. It will provide long-term outcomes of fetal genomic variants to guide evidence-based pre-and postnatal care. This, in turn, will inform future efforts to mitigate the negative consequences of conveying genomic uncertainty during pregnancy.

trial registrationACTRN12620000446965p ; Registered on April 6, 2020.

Indexed as

GenomicsPrenatal DiagnosisAustraliaChildChild, PreschoolCohort StudiesFemaleHumansInfantMicroarray AnalysisPregnancyChildhood outcomesChromosomal microarray analysisGenomic copy number variantPostnatal outcomesPrenatal diagnosisVariants of uncertain significance

Identifiers

PMID34629048
PMCPMC8502634
OpenAlexW3207650830

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.