Evidence map›Paper›PMID 39174956›Full record

ArticleBMC pediatrics2024

Perinatal outcomes after a prenatal diagnosis of a fetal copy number variant: a retrospective population-based cohort study.

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

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PubMed Full text at PMC Publisher
In one paragraph

Article in BMC pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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.

Cecilia PynakerReproductive Epidemiology Group, Murdoch Children's Research Institute, Parkville, VIC, Australia.
Jacqui McCoyReproductive Epidemiology Group, Murdoch Children's Research Institute, Parkville, VIC, Australia.
Jane HallidayReproductive Epidemiology Group, Murdoch Children's Research Institute, Parkville, VIC, Australia.
Sharon LewisReproductive Epidemiology Group, Murdoch Children's Research Institute, Parkville, VIC, Australia.
David J AmorReproductive Epidemiology Group, Murdoch Children's Research Institute, Parkville, VIC, Australia.
Susan P WalkerDepartment of Obstetrics, Gynaecology and Newborn Health, University of Melbourne, Parkville, VIC, Australia.
Lisa HuiReproductive Epidemiology Group, Murdoch Children's Research Institute, Parkville, VIC, Australia. lisa.hui@unimelb.edu.au.
PALM cohort study group

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThere are no established guidelines for the follow up of infants born after a prenatal diagnosis of a genomic copy number variant (CNV), despite their increased risk of developmental issues. The aims of this study were (i) to determine the perinatal outcomes of fetuses diagnosed with and without a CNV, and (ii) to establish a population-based paediatric cohort for long term developmental follow up.

methodsAn Australian state-wide research database was screened for pregnant individuals who had a prenatal chromosomal microarray (CMA) between 2013-2019 inclusive. Following linkage to laboratory records and clinical referrer details, hospital records were manually reviewed for study eligibility. Eligible participants were mother-child pairs where the pregnancy resulted in a livebirth, the mother was able to provide informed consent in English (did not require a translator) and the mother was the primary caregiver for the child at hospital discharge after birth. Research invitations were sent by registered post at an average of six years after the prenatal diagnostic test. Statistical analysis was performed in Stata17.

resultsOf 1832 prenatal records examined, 1364 (74.5%) mother-child pairs were eligible for recruitment into the follow up cohort. Of the 468 ineligible, 282 (60.3%) had 'no live pregnancy outcome' (209 terminations of pregnancy (TOP) and 73 miscarriages, stillbirths, and infant deaths), 157 (33.5%) required a translator, and 29 (6.2%) were excluded for other reasons. TOP rates varied by the type of fetal CNV detected: 49.3% (109/221) for pathogenic CNVs, 18.2% (58/319) for variants of uncertain significance and 3.3% (42/1292) where no clinically significant CNV was reported on CMA. Almost 77% of invitation letters were successfully delivered (1047/1364), and the subsequent participation rate in the follow up cohort was 19.2% (201/1047).

conclusionsThis study provides Australia's first population-based data on perinatal outcomes following prenatal diagnostic testing with CMA. The relatively high rates of pregnancy loss for those with a prenatal diagnosis of a CNV presented a challenge for establishing a paediatric cohort to examine long term outcomes. Recruiting a mother-child cohort via prenatal ascertainment is a complex and resource-intensive process, but an important step in understanding the impact of a CNV diagnosis in pregnancy and beyond.

trial registrationACTRN12620000446965p; Registered on April 6, 2020.

Indexed as

DNA Copy Number VariationsPregnancy OutcomePrenatal DiagnosisAdultAustraliaFemaleFollow-Up StudiesHumansInfant, NewbornMalePregnancyRetrospective StudiesChromosomal microarray analysisCohort studiesCopy number variantsFeasibility studiesPaediatric populationPerinatal outcomesPrenatal diagnosisVariant of uncertain significance

Identifiers

PMID39174956
PMCPMC11340052

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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 OpenQuestion graph.