Evidence map›Paper›PMID 36447355›Full record

ArticlePrenatal diagnosis2023

Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants.

Line Dahl Jeppesen, Dorte Launholt Lildballe, Lotte Hatt, Jakob Hedegaard, Ripudaman Singh, Christian Liebst Frisk Toft, Palle Schelde, Anders Sune Pedersen, Michael Knudsen, Ida Vogel

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 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
3.2field-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

8 citing papers in PubMed, 22 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Article
  5. Article
  6. Non-invasive prenatal diagnosis (NIPD): current and emerging technologies.Extracellular vesicles and circulating nucleic acids · 2023
    Review
  7. Article
  8. 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

10 authors at 4 institutions in 1 country.

Line Dahl JeppesenARCEDI, Vejle, Denmark.ORCID 0000-0002-5058-787X
Dorte Launholt LildballeCenter for Fetal Diagnostics, Department of Clinical Medicine, Faculty of Health, Aarhus University, Aarhus, Denmark.
Lotte HattARCEDI, Vejle, Denmark.
Jakob HedegaardARCEDI, Vejle, Denmark.
Ripudaman SinghARCEDI, Vejle, Denmark.ORCID 0000-0003-2657-0661
Christian Liebst Frisk ToftDepartment of Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.ORCID 0000-0002-5012-3143
Palle ScheldeARCEDI, Vejle, Denmark.
Anders Sune PedersenARCEDI, Vejle, Denmark.
Michael KnudsenARCEDI, Vejle, Denmark.
Ida VogelCenter for Fetal Diagnostics, Department of Clinical Medicine, Faculty of Health, Aarhus University, Aarhus, Denmark.
Vejle Sygehus · DKAarhus University · DKAarhus University Hospital · DKAalborg University Hospital · DK

Funding

ARCEDIInnovationsfonden 0153-00004BNovo Nordisk Fonden NNF16OC0018772
6 · The paper itself

Abstract

objectivesCystic fibrosis (CF) is one of the most common severe autosomal recessive disorders. Prenatal or preconception CF screening is offered in some countries. A maternal blood sample in early pregnancy can provide circulating trophoblasts and offers a DNA source for genetic analysis of both the mother and the fetus. This study aimed to develop a cell-based noninvasive prenatal test (NIPT) to screen for the 50 most common CF variants.

methodsBlood samples were collected from 30 pregnancies undergoing invasive diagnostics and circulating trophoblasts were harvested in 27. Cystic fibrosis testing was conducted using two different methods: by fragment length analysis and by our newly developed NGS-based CF analysis.

resultsIn all 27 cases, cell-based NIPT provided a result using both methods in agreement with the invasive test result.

conclusionThis study shows that cell-based NIPT for CF screening provides a reliable result without the need for partner- and proband samples.

Indexed as

Cystic FibrosisNoninvasive Prenatal TestingFemaleFetusGenetic TestingHumansPregnancyPrenatal DiagnosisTrophoblasts

Identifiers

PMID36447355
PMCPMC10107343
OpenAlexW4310368843

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.