Evidence map›Paper›PMID 36922634›Full record

ReviewEuropean journal of human genetics : EJHG2023

Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990-2021.

Henry C Wilmot, Gert de Graaf, Pieter van Casteren, Frank Buckley, Brian G Skotko

Abstract readReview
In one paragraph

Review in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing 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

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

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  13. Molecular explanations for variability of clinical phenotypes.European journal of human genetics : EJHG · 2023
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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

5 authors.

Henry C WilmotDown Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, 02114, USA.
Gert de GraafDutch Down Syndrome Foundation, Meppel, the Netherlands.ORCID 0000-0002-4990-5711
Pieter van CasterenAmsterdam School of Economics, University of Amsterdam, Amsterdam, the Netherlands.ORCID 0000-0002-3051-4390
Frank BuckleyDown Syndrome Education International, Kirkby Lonsdale, Cumbria, UK.ORCID 0000-0002-9708-2705
Brian G SkotkoDown Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, 02114, USA. bskotko@mgh.harvard.edu.ORCID 0000-0002-5232-9882

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Antenatal screening and diagnostic testing for Down syndrome has greatly advanced over the past 30 years. The goal of this manuscript is to provide a review of the availability and accessibility of prenatal services and selective termination policies across Europe, Australia, New Zealand, and the United States for the period 1990-2021. We collected data from academic peer-reviewed journals, governmental documents, not-for-profit organizations, correspondence with experts, and other online sources without language restrictions. Prenatal screening services from 1990-2021 became increasingly available across countries, enabling expectant couples the opportunity to gain more accurate information earlier in the pregnancy before assuming the risk associated with more invasive techniques like CVS or amniocentesis. Many countries also began adopting prenatal screening as a qualification for prenatal diagnosis. As of 2021, at least 76.9% of countries offered full coverage for diagnostic testing for Down syndrome from government funding. Abortion coverage for a Down syndrome diagnosis was covered fully by government funding in 52.4% of countries in 1990, increasing to 73.8% in 2021. Understanding the changing landscape of prenatal services builds the foundation for future investigation into social policies that affect the prevalence of Down syndrome.

Indexed as

Down SyndromeAustraliaEuropeFemaleHumansNew ZealandPregnancyPrenatal DiagnosisUnited States

Identifiers

PMID36922634
PMCPMC10172164

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.