Evidence map›Paper›PMID 36443901›Full record

ArticlePrenatal diagnosis2023

Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling.

Anna Doffini, Claudio Forcato, Chiara Mangano, Debora Lattuada, Roberta Aversa, Chiara Maranta, Emilia D Giovannone, Genny Buson, Chiara Bolognesi, Rebecca Maiocchi and 15 more

Open access · hybridAbstract read
In one paragraph

Article in Prenatal diagnosis, 2023. 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
4.9field-weighted citation impact, top 5% 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, 14 citations in OpenAlex.

  1. Article
  2. Single-cell-based non-invasive screening for fetal pathogenic microimbalances using maternal blood: comparison with invasive prenatal diagnosis.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2026
    Observational
  3. Review
  4. 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

25 authors at 6 institutions in 2 countries.

Anna DoffiniA. Menarini Biomarkers Singapore Pte Ltd, R&D department, Singapore, Singapore.
Claudio ForcatoA. Menarini Biomarkers Singapore Pte Ltd, R&D department, Singapore, Singapore.
Chiara ManganoA. Menarini Biomarkers Singapore Pte Ltd, R&D department, Singapore, Singapore.
Debora LattuadaDepartment of Woman Child and Neonate, Obstetrics Unit, Fondazione IRCCS, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Roberta AversaA. Menarini Biomarkers Singapore Pte Ltd, R&D department, Singapore, Singapore.
Chiara MarantaA. Menarini Biomarkers Singapore Pte Ltd, R&D department, Singapore, Singapore.
Emilia D GiovannoneA. Menarini Biomarkers Singapore Pte Ltd, R&D department, Singapore, Singapore.
Genny BusonA. Menarini Biomarkers Singapore Pte Ltd, R&D department, Singapore, Singapore.
Chiara BolognesiA. Menarini Biomarkers Singapore Pte Ltd, R&D department, Singapore, Singapore.
Rebecca MaiocchiA. Menarini Biomarkers Singapore Pte Ltd, R&D department, Singapore, Singapore.
Martina DoriA. Menarini Biomarkers Singapore Pte Ltd, R&D department, Singapore, Singapore.
Liyana JamalA. Menarini Biomarkers Singapore Pte Ltd, R&D department, Singapore, Singapore.ORCID 0000-0002-2302-5492
Raidah B AhmadA. Menarini Biomarkers Singapore Pte Ltd, R&D department, Singapore, Singapore.
George S H YeoDepartment of Maternal Fetal Medicine, KK Women's and Children's Hospital, Singapore, Singapore.
Tai Wai YeoDepartment of Maternal Fetal Medicine, KK Women's and Children's Hospital, Singapore, Singapore.
Silvia SaragozzaResearch and Development, Cytogenetics and Molecular Genetics, TOMA Advanced Biomedical Assays S.p.A., Impact Lab, Busto Arsizio, Italy.
Rosamaria SilipigniLaboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Marta SerafiniCentro Ricerca M. Tettamanti, Department of Pediatrics, University of Milano-Bicocca, Monza, Italy.
Andrea BiondiCentro Ricerca M. Tettamanti, Department of Pediatrics, University of Milano-Bicocca, Monza, Italy.
Sofia PeregoDepartment of Obstetrics and Gynecology, MBBM Foundation Onlus at San Gerardo Hospital, Monza, Italy.
Patrizia VerganiDepartment of Obstetrics and Gynecology, MBBM Foundation Onlus at San Gerardo Hospital, Monza, Italy.
Enrico FerrazziDepartment of Woman Child and Neonate, Obstetrics Unit, Fondazione IRCCS, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Paola Ricciardi-CastagnoliA. Menarini Biomarkers Singapore Pte Ltd, R&D department, Singapore, Singapore.
Thomas J MusciA. Menarini Biomarkers Singapore Pte Ltd, R&D department, Singapore, Singapore.
Francesca Romana GratiA. Menarini Biomarkers Singapore Pte Ltd, R&D department, Singapore, Singapore.ORCID 0000-0002-3836-5190
Academy of Medicine · SGFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITAzienda Ospedaliera San Gerardo · ITKK Women's and Children's Hospital · SGUniversity of Milano-Bicocca · ITOspedale di Circolo di Busto Arsizio · IT

Funding

A. Menarini Biomarkers Singapore Pte Ltd
6 · The paper itself

Abstract

objectiveTo develop a multi-step workflow for the isolation of circulating extravillous trophoblasts (cEVTs) by describing the key steps enabling a semi-automated process, including a proprietary algorithm for fetal cell origin genetic confirmation and copy number variant (CNV) detection.

methodsDetermination of the limit of detection (LoD) for submicroscopic CNV was performed by serial experiments with genomic DNA and single cells from Coriell cell line biobank with known imbalances of different sizes. A pregnancy population of 372 women was prospectively enrolled and blindly analyzed to evaluate the current workflow.

resultsAn LoD of 800 Kb was demonstrated with Coriell cell lines. This level of resolution was confirmed in the clinical cohort with the identification of a pathogenic CNV of 800 Kb, also detected by chromosomal microarray. The mean number of recovered cEVTs was 3.5 cells per sample with a significant reverse linear trend between gestational age and cEVT recovery rate and number of recovered cEVTs. In twin pregnanices, evaluation of zygosity, fetal sex and copy number profiling was performed in each individual cell.

conclusionOur semi-automated methodology for the isolation and single-cell analysis of cEVTS supports the feasibility of a cell-based noninvasive prenatal test for fetal genomic profiling.

Indexed as

DNA Copy Number VariationsTrophoblastsFemaleHumansMicroarray AnalysisPregnancyPrenatal CarePrenatal Diagnosis

Identifiers

PMID36443901
PMCPMC10107339
OpenAlexW4310191438

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.