Prenatal cfDNA Screening for Emanuel Syndrome and Other Unbalanced Products of Conception in Carriers of the Recurrent Balanced Translocation t(11;22): One Laboratory's Retrospective Experience.

Erica Soster, Brittany Dyr, Samantha Caldwell, Amanda Sussman, Hany Magharyous

Open access · goldAbstract read

In one paragraph

Article in Genes, 2023. 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

1.7field-weighted citation impact, top 13% 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, 3 citations in OpenAlex.

Emanuel Syndrome: A Case Report With Isolated Nuchal Translucency Thickening.Case reports in genetics · 2025
Article
Case Report: Prenatal diagnosis of a rare complex fetal karyotype 47,U,t(10;13)(p15;q22)mat,+der(13)t(10;13)dmat resulting from 3:1 meiotic segregation of a maternal balanced translocation.Frontiers in reproductive health · 2025
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

5 authors at 1 institution in 1 country.

Erica SosterLabcorp, La Jolla, San Diego, 92121 CA, USA.ORCID 0000-0003-4464-8872

Brittany DyrLabcorp, La Jolla, San Diego, 92121 CA, USA.

Samantha CaldwellLabcorp, La Jolla, San Diego, 92121 CA, USA.

Amanda SussmanLabcorp, Research Triangle Park, Durham, 27709 NC, USA.ORCID 0000-0002-0408-6783

Hany MagharyousLabcorp, La Jolla, San Diego, 92121 CA, USA.

LabCorp (United States) · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Prenatal cell-free DNA screening (cfDNA) can identify fetal chromosome abnormalities beyond common trisomies. Emanuel syndrome (ES), caused by an unbalanced translocation between chromosomes 11 and 22, has lacked a reliable prenatal screening option for families with a carrier parent. A cohort of cases (

Indexed as

Cell-Free Nucleic AcidsNoninvasive Prenatal TestingChromosome AberrationsChromosome DisordersCleft PalateFemaleHeart Defects, CongenitalHumansIntellectual DisabilityMuscle HypotoniaPregnancyPrenatal DiagnosisRetrospective StudiesTranslocation, GeneticCell-Free Nucleic Acidscell-free DNA (cfDNA)Emanuel syndromenoninvasive prenatal testing (NIPT)prenatal diagnosisprenatal screeningtranslocation

Identifiers

PMID37895273

DOI10.3390/genes14101924

PMCPMC10606745

OpenAlexW4387501097

What OpenQuestion 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 OpenQuestion graph.