Evidence map›Paper›PMID 31214330›Full record

ReviewF1000Research2019

Recent trends in prenatal genetic screening and testing.

Ondrej Pös, Jaroslav Budiš, Tomáš Szemes

Abstract readReview
In one paragraph

Review in F1000Research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
38citing 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

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

  1. Pooled it
  2. Guideline
  3. Article
  4. Article
  5. Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024
    Review
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  10. Review
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  18. [Genetic characteristics of microtia-associated syndromes in neonates].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2022
    Article
  19. Review
  20. 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

3 authors.

Ondrej PösFaculty of Natural Sciences, Comenius University, Bratislava, 84215, Slovakia.
Jaroslav BudišUniversity Science Park, Comenius University, Bratislava, 84104, Slovakia.
Tomáš SzemesFaculty of Natural Sciences, Comenius University, Bratislava, 84215, Slovakia.ORCID 0000-0002-0900-2534

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Prenatal testing in recent years has been moving toward non-invasive methods to determine the fetal risk for genetic disorders without incurring the risk of miscarriage. Rapid progress of modern high-throughput molecular technologies along with the discovery of cell-free fetal DNA in maternal plasma led to novel screening methods for fetal chromosomal aneuploidies. Such tests are referred to as non-invasive prenatal tests (NIPTs), non-invasive prenatal screening, or prenatal cell-free DNA screening. Owing to many advantages, the adoption of NIPT in routine clinical practice was very rapid and global. As an example, NIPT has recently become a standard screening procedure for all pregnant women in the Netherlands. On the other hand, invasive sampling procedures remain important, especially for their diagnostic value in the confirmation of NIPT-positive findings and the detection of Mendelian disorders. In this review, we focus on current trends in the field of NIPT and discuss their benefits, drawbacks, and consequences in regard to routine diagnostics.

Indexed as

AneuploidyCell-Free Nucleic AcidsFemaleFetusGenetic TestingHumansPregnancyPrenatal DiagnosisCell-Free Nucleic AcidsamniocentesiscffDNAfetal aneuploidiesNIPTnon-invasivescreening

Identifiers

PMID31214330
PMCPMC6545823

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Registered trials

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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.