Evidence map›Paper›PMID 39623216›Full record

ReviewEuropean journal of human genetics : EJHG2025

Population-based genetic carrier screening. A consensus statement from the Spanish societies: AEGH, AEDP, ASEBIR, SEAGEN, SEF and SEGCD.

Xavier Vendrell, Anna Abulí, Clara Serra, Juan José Guillén, Joaquín Rueda, Javier García-Planells, Fernando Santos-Simarro, Ramiro Quiroga, Fernando Abellán, Raluca Oancea-Ionescu and 1 more

Abstract readReviewConsensus Statement
In one paragraph

Review in European journal of human genetics : EJHG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–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

3 citing papers in PubMed.

  1. Review
  2. Article
  3. What's new in April's EJHG?European journal of human genetics : EJHG · 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

11 authors.

Xavier VendrellSpanish Association of Human Genetics (AEGH), Villanueva Street, 11, Madrid, Spain. xavier.vendrell@sistemasgenomicos.com.ORCID 0000-0001-7403-3372
Anna AbulíAssociation to the Study of Biology of Reproduction (ASEBIR), Cronos Street, 20, Building 4(1st), 6, 28037, Madrid, Spain.
Clara SerraSpanish Society of Genetic Counseling (SEAGEN), The Vall d'Hebron Hospital, 119, 08035, Barcelona, Spain.
Juan José GuillénSpanish Society of Fertility (SEF), Marqués de la Valdavia Street, 9, 1st E, 28012, Madrid, Spain.
Joaquín RuedaSpanish Association of Human Genetics (AEGH), Villanueva Street, 11, Madrid, Spain.ORCID 0000-0002-3774-8763
Javier García-PlanellsSpanish Association of Human Genetics (AEGH), Villanueva Street, 11, Madrid, Spain.ORCID 0000-0002-3224-2966
Fernando Santos-SimarroSpanish Society of Clinical Genetics and Dysmorphology (SEGCD), Universidad Street, 4, 46003, Valencia, Spain.ORCID 0000-0002-1201-9118
Ramiro QuirogaSpanish Association of Prenatal Diagnosis (AEDP), Sagasta Street 62, ES1, 3rdB, 50006, Zaragoza, Spain.
Fernando AbellánDerecho Sanitario Asesores, Madrid, Spain.
Raluca Oancea-Ionescu *Spanish Association of Human Genetics (AEGH), Villanueva Street, 11, Madrid, Spain.ORCID 0000-0002-9577-314X
Encarna Guillén-Navarro *Spanish Association of Human Genetics (AEGH), Villanueva Street, 11, Madrid, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autosomal recessive or X-linked disorders are passed from parents to offspring through Mendelian inheritance patterns and may lead to severe clinical manifestations in early childhood development. Together, the Spanish Association of Human Genetics (AEGH), Association for the Study of Reproductive Biology (ASEBIR), Spanish Association of Genetic Counselling (SEAGEN), Spanish Fertility Society (SEF), Spanish Society of Clinical Genetics and Dysmorphology (SEGCD), and the Spanish Association of Prenatal Diagnostics (AEDP) developed a consensus statement for population-based genetic carrier screening (GCS). The presented opinion statement recommends that preconception GCS services be included in the public healthcare system to support couples' reproductive autonomy and timely medical decision-making. Program design and implementation strategies, as well as key technical, ethical, and legal considerations are discussed.

Indexed as

Genetic Carrier ScreeningGenetic TestingFemaleGenetic CounselingHumansMalePregnancyPrenatal DiagnosisSocieties, MedicalSpain

Identifiers

PMID39623216
PMCPMC11985959

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.