Evidence map›Paper›PMID 28900794›Full record

ArticleJournal of assisted reproduction and genetics2018

Diagnosis of parental balanced reciprocal translocations by trophectoderm biopsy and comprehensive chromosomal screening.

L W Sundheimer, L Liu, R P Buyalos, G Hubert, Z Al-Safi, M Shamonki

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In one paragraph

Article in Journal of assisted reproduction and genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.2field-weighted citation impact, top 16% 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

4 citing papers in PubMed, 8 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 1 institution in 1 country.

L W SundheimerDivision of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, David Geffen School of Medicine, University of California, 10833 Le Conte Avenue, Room 27-139 CHS, Los Angeles, CA, 90095-1740, USA. lsundheimer@mednet.ucla.edu.ORCID http://orcid.org/0000-0002-2530-5324
L LiuPacGenomics, 28222 Agoura Road Suite 200, Agoura Hills, CA, 91301, USA.
R P BuyalosDivision of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, David Geffen School of Medicine, University of California, 10833 Le Conte Avenue, Room 27-139 CHS, Los Angeles, CA, 90095-1740, USA.
G HubertDivision of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, David Geffen School of Medicine, University of California, 10833 Le Conte Avenue, Room 27-139 CHS, Los Angeles, CA, 90095-1740, USA.
Z Al-SafiDivision of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, David Geffen School of Medicine, University of California, 10833 Le Conte Avenue, Room 27-139 CHS, Los Angeles, CA, 90095-1740, USA.
M ShamonkiDivision of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, David Geffen School of Medicine, University of California, 10833 Le Conte Avenue, Room 27-139 CHS, Los Angeles, CA, 90095-1740, USA.
University of California, Los Angeles · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeThis study investigates a case series of eight couples who underwent trophectoderm (TE) biopsy and comprehensive chromosomal screening (CCS) for routine aneuploidy screening and were found to have CCS results concerning for previously undetected parental balanced reciprocal translocations.

methodsIn each case, controlled ovarian hyperstimulation and in vitro fertilization (IVF) yielded multiple blastocysts that each underwent CCS with high-density oligonucleotide microarray comparative genomic hybridization (aCGH).

resultsParental translocations were suspected based on the finding of identical break point mutations in multiple embryos from each couple. Confirmation of these suspected translocations within blastocysts was performed with next-generation sequencing (NGS). Subsequent parental karyotypic evaluation resulted in a diagnosis of parental balanced reciprocal translocation in each case.

conclusionsWe demonstrated that high-resolution aCGH and NGS on TE biopsies can accurately detect parental reciprocal translocations when previously unrecognized.

Indexed as

Translocation, GeneticAneuploidyBiopsyBlastocystCohort StudiesComparative Genomic HybridizationEctodermFemaleGenetic TestingHigh-Throughput Nucleotide SequencingHumansMalePregnancyPreimplantation DiagnosisTrophoblastsBlastocyst trophectoderm biopsyComprehensive chromosomal screening (CCS)Preimplantation genetic screening (PGS)Reciprocal translocationRecurrent pregnancy loss (RPL)

Identifiers

PMID28900794
PMCPMC5758465
OpenAlexW2756480009

What OpenQuestion holds

Textmetadata
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.