Evidence map›Paper›PMID 38516780›Full record

GuidelineCirculation. Genomic and precision medicine2024

Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.

Job A J Verdonschot, Debby M E I Hellebrekers, Vanessa P M van Empel, Malou Heijligers, Sonja de Munnik, Edith Coonen, Jos C M F Dreesen, Arthur van den Wijngaard, Han G Brunner, Masoud Zamani Esteki and 3 more

Open access · hybridAbstract readComparative StudyPractice Guideline
PubMed Full text at PMC Publisher
In one paragraph

Guideline in Circulation. Genomic and precision medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
12.2field-weighted citation impact, top 1% 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

7 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Review
  3. Preferences regarding preconceptional and genetic counselling and pregnancy check-ups among women with the PLN p. (Arg14del) variant.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2026
    Article
  4. Article
  5. Review
  6. Review
  7. Review
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

13 authors at 3 institutions in 3 countries.

Job A J VerdonschotDepartment of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.).ORCID 0000-0001-5549-1298
Debby M E I HellebrekersDepartment of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.).ORCID 0000-0002-6864-0296
Vanessa P M van EmpelDepartment of Cardiology, Maastricht University, Cardiovascular Research Institute Maastricht, the Netherlands (J.A.J.V., V.P.M.v.E., S.R.B.H.).
Malou HeijligersDepartment of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.).ORCID 0000-0002-0174-8278
Sonja de MunnikDepartment of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.).ORCID 0000-0002-1213-6373
Edith CoonenDepartment of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.).ORCID 0000-0002-8601-7369
Jos C M F DreesenDepartment of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.).
Arthur van den WijngaardDepartment of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.).
Han G BrunnerDepartment of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.).ORCID 0000-0001-9274-8865
Masoud Zamani EstekiDepartment of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.).ORCID 0000-0003-3909-0050
Stephane R B HeymansDepartment of Cardiology, Maastricht University, Cardiovascular Research Institute Maastricht, the Netherlands (J.A.J.V., V.P.M.v.E., S.R.B.H.).ORCID 0000-0001-9477-7803
Christine E M de Die-SmuldersDepartment of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.).ORCID 0000-0003-3485-6870
Aimée D C PaulussenDepartment of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.).ORCID 0000-0002-1661-7625
Maastricht University · NLMACOM (United States) · USRadboud University Nijmegen · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPreimplantation genetic testing (PGT) is a reproductive technology that selects embryos without (familial) genetic variants. PGT has been applied in inherited cardiac disease and is included in the latest American Heart Association/American College of Cardiology guidelines. However, guidelines selecting eligible couples who will have the strongest risk reduction most from PGT are lacking. We developed an objective decision model to select eligibility for PGT and compared its results with those from a multidisciplinary team.

methodsAll couples with an inherited cardiac disease referred to the national PGT center were included. A multidisciplinary team approved or rejected the indication based on clinical and genetic information. We developed a decision model based on published risk prediction models and literature, to evaluate the severity of the cardiac phenotype and the penetrance of the familial variant in referred patients. The outcomes of the model and the multidisciplinary team were compared in a blinded fashion.

resultsEighty-three couples were referred for PGT (1997-2022), comprising 19 different genes for 8 different inherited cardiac diseases (cardiomyopathies and arrhythmias). Using our model and proposed cutoff values, a definitive decision was reached for 76 (92%) couples, aligning with 95% of the multidisciplinary team decisions. In a prospective cohort of 11 couples, we showed the clinical applicability of the model to select couples most eligible for PGT.

conclusionsThe number of PGT requests for inherited cardiac diseases increases rapidly, without the availability of specific guidelines. We propose a 2-step decision model that helps select couples with the highest risk reduction for cardiac disease in their offspring after PGT.

Indexed as

Clinical Decision-MakingGenetic Diseases, InbornGenetic TestingHeart DiseasesPreimplantation DiagnosisReferral and ConsultationArrhythmias, CardiacCardiomyopathiesFamily CharacteristicsFemaleHeterozygoteHumansMalePregnancyProspective StudiesRisk ManagementAmerican Heart AssociationBrugada syndromecardiomyopathiesheart diseaseheart transplantation

Identifiers

PMID38516780
PMCPMC11019983
OpenAlexW4393073709

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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.