Evidence map›Paper›PMID 25351780›Full record

Observational studyEuropean journal of human genetics : EJHG2015

Comparison of array comparative genomic hybridization and quantitative real-time PCR-based aneuploidy screening of blastocyst biopsies.

Antonio Capalbo, Nathan R Treff, Danilo Cimadomo, Xin Tao, Kathleen Upham, Filippo Maria Ubaldi, Laura Rienzi, Richard T Scott

Abstract readComparative StudyObservational Study
In one paragraph

Observational study in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
44citing papers in PubMed, 2 pooled it
–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

44 citing papers in PubMed, 2 syntheses or guidelines pooled it.

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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

8 authors.

Antonio Capalbo1] GENERA, Centers for Reproductive Medicine, Rome, Naples, Umbertide, Marostica, Italy [2] GENETYX, Molecular Genetics Laboratory, Marostica, Vicenza, Italy.
Nathan R Treff1] Reproductive Medicine Associates of New Jersey, Basking Ridge, NJ, USA [2] Division of Reproductive Endocrinology, Department of Obstetrics, Gynecology and Reproductive Science, Robert Wood Johnson Medical School, Rutgers University, New Brunswick, NJ, USA.
Danilo Cimadomo1] GENERA, Centers for Reproductive Medicine, Rome, Naples, Umbertide, Marostica, Italy [2] GENETYX, Molecular Genetics Laboratory, Marostica, Vicenza, Italy.
Xin TaoReproductive Medicine Associates of New Jersey, Basking Ridge, NJ, USA.
Kathleen UphamReproductive Medicine Associates of New Jersey, Basking Ridge, NJ, USA.
Filippo Maria Ubaldi1] GENERA, Centers for Reproductive Medicine, Rome, Naples, Umbertide, Marostica, Italy [2] GENETYX, Molecular Genetics Laboratory, Marostica, Vicenza, Italy.
Laura Rienzi1] GENERA, Centers for Reproductive Medicine, Rome, Naples, Umbertide, Marostica, Italy [2] GENETYX, Molecular Genetics Laboratory, Marostica, Vicenza, Italy.
Richard T Scott1] Reproductive Medicine Associates of New Jersey, Basking Ridge, NJ, USA [2] Division of Reproductive Endocrinology, Department of Obstetrics, Gynecology and Reproductive Science, Robert Wood Johnson Medical School, Rutgers University, New Brunswick, NJ, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Comprehensive chromosome screening (CCS) methods are being extensively used to select chromosomally normal embryos in human assisted reproduction. Some concerns related to the stage of analysis and which aneuploidy screening method to use still remain. In this study, the reliability of blastocyst-stage aneuploidy screening and the diagnostic performance of the two mostly used CCS methods (quantitative real-time PCR (qPCR) and array comparative genome hybridization (aCGH)) has been assessed. aCGH aneuploid blastocysts were rebiopsied, blinded, and evaluated by qPCR. Discordant cases were subsequently rebiopsied, blinded, and evaluated by single-nucleotide polymorphism (SNP) array-based CCS. Although 81.7% of embryos showed the same diagnosis when comparing aCGH and qPCR-based CCS, 18.3% (22/120) of embryos gave a discordant result for at least one chromosome. SNP array reanalysis showed that a discordance was reported in ten blastocysts for aCGH, mostly due to false positives, and in four cases for qPCR. The discordant aneuploidy call rate per chromosome was significantly higher for aCGH (5.7%) compared with qPCR (0.6%; P<0.01). To corroborate these findings, 39 embryos were simultaneously biopsied for aCGH and qPCR during blastocyst-stage aneuploidy screening cycles. 35 matched including all 21 euploid embryos. Blinded SNP analysis on rebiopsies of the four embryos matched qPCR. These findings demonstrate the high reliability of diagnosis performed at the blastocyst stage with the use of different CCS methods. However, the application of aCGH can be expected to result in a higher aneuploidy rate than other contemporary methods of CCS.

Indexed as

AneuploidyBlastocystChromosome DisordersComparative Genomic HybridizationDouble-Blind MethodEmbryo, MammalianFemaleGenetic TestingHumansMaleMicroarray AnalysisPolymorphism, Single NucleotidePregnancyPreimplantation DiagnosisProspective StudiesReal-Time Polymerase Chain Reaction

Identifiers

PMID25351780
PMCPMC4463508

What OpenQuestion holds

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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 OpenQuestion graph.