Evidence map›Paper›PMID 28396697›Full record

ArticleMolecular cytogenetics2017

Efficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data.

Celia Donaghue, Nada Davies, Joo Wook Ahn, Helen Thomas, Caroline Mackie Ogilvie, Kathy Mann

Open access · goldAbstract read
In one paragraph

Article in Molecular cytogenetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
4.1field-weighted citation impact, top 7% 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

14 citing papers in PubMed, 27 citations in OpenAlex.

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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

6 authors at 2 institutions in 2 countries.

Celia DonaghueGenetics Department, Viapath Analytics, Guy's Hospital, London, SE1 9RT UK.ORCID 0000-0001-5484-1559
Nada DaviesGenetics Department, Viapath Analytics, Guy's Hospital, London, SE1 9RT UK.
Joo Wook AhnGenetics Department, Guys and St Thomas NHS Foundation Trust, London, SE1 9RT UK.
Helen ThomasGenetics Department, Viapath Analytics, Guy's Hospital, London, SE1 9RT UK.
Caroline Mackie OgilvieGenetics Department, Guys and St Thomas NHS Foundation Trust, London, SE1 9RT UK.
Kathy MannGenetics Department, Viapath Analytics, Guy's Hospital, London, SE1 9RT UK.
Guy's Hospital · GBGuy's and St Thomas' NHS Foundation Trust · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundTraditional testing of miscarriage products involved culture of tissue followed by G-banded chromosome analysis; this approach has a high failure rate, is labour intensive and has a resolution of around 10 Mb. G-banded chromosome analysis has been replaced by molecular techniques in some laboratories; we previously introduced a QF-PCR/MLPA testing strategy in 2007. To improve diagnostic yield and efficiency we have now updated our testing strategy to a more comprehensive QF-PCR assay followed by array CGH. Here we describe the results from the last 5 years of service.

methodsFetal tissue samples and products of conception were tested using QF-PCR which will detect aneuploidy for chromosomes 13, 14, 15, 16, 18, 21, 22, X and Y. Samples that were normal were then tested by aCGH and all imbalance >1Mb and fully penetrant clinically significant imbalance <1Mb was reported.

resultsQF-PCR analysis identified aneuploidy/triploidy in 25.6% of samples. aCGH analysis detected imbalance in a further 9.6% of samples; this included 1.8% with submicroscopic imbalance and 0.5% of uncertain clinical significance. This approach has a failure rate of 1.4%, compared to 30% for G-banded chromosome analysis.

conclusionsThis efficient QF-PCR/aCGH strategy has a lower failure rate and higher diagnostic yield than karyotype or MLPA strategies; both findings are welcome developments for couples with recurrent miscarriage.

Indexed as

aCGHAneuploidyFetal tissueMiscarriageProducts of conceptionQF-PCR

Identifiers

PMID28396697
PMCPMC5382376
OpenAlexW2604680571

What OpenQuestion holds

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LicenceCC BY
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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 OpenQuestion graph.