Evidence map›Paper›PMID 37861066›Full record

ArticleAmerican journal of medical genetics. Part A2024

The importance of patient-specific resources for families dealing with prenatal rare diseases.

Dhyanam P Shukla, Jennifer Ortiz Cutshall, Lex van der Heijden, Erica Schindewolf, Sarah E Sheppard

Open access · bronzeAbstract read
In one paragraph

Article in American journal of medical genetics. Part A, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.6field-weighted citation impact, top 23% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. 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

5 authors at 4 institutions in 2 countries.

Dhyanam P ShuklaUnit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.
Jennifer Ortiz CutshallYork, Pennsylvania, USA.
Lex van der HeijdenCMTC-OVM, Silvolde, Netherlands.
Erica SchindewolfRichard D. Wood Jr. Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Sarah E SheppardUnit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.ORCID 0000-0003-3480-8123
Eunice Kennedy Shriver National Institute of Child Health and Human Development · USChildren's Hospital of Philadelphia · USPAMM · NLYork College of Pennsylvania · US

Funding

Cellular and Molecular Mechanisms of Vascular MalformationsZIAHD009003 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI SHEPPARD, SARAH · 2022 to 2025
$6.1M
Intramural NIH HHS ZIA HD009003
6 · The paper itself

Abstract

Rare diseases (RDs) are defined as diseases that affect a low number of the population. Prenatal diagnoses of RDs can add a lot of unique stress for parents. For example, parents who have prenatal diagnoses experience not only grief of expectation, but are forced to become patient advocates with incomplete information as their child is not yet born, and in many cases parents experience a lot of uncertainty. This typically involves seeking support groups and finding pre- and postnatal specialists all which come with mental and financial cost. Here we discuss the importance of targeted patient resources for parents to help alleviate some of their stress. Patient advocacy organizations can be incredibly useful for parents to navigate the complex healthcare system and help mitigate feelings of isolation, especially when parents can talk to others in a similar situation. We collaborated with a patient organization to create a prenatal parent support guide to address how parental needs such as mental well-being and practicing self-care can be met. We hope that resources such as these can help empower those with a pregnancy affected with a RD diagnosis.

Indexed as

Fetal DiseasesRare DiseasesFemaleHumansParentsPregnancyPrenatal DiagnosisSelf-Help Groupspatient advocacyrare diseasesvascular anomalyvascular malformation

Identifiers

PMID37861066
PMCPMC10922059
OpenAlexW4387798216

What OpenQuestion holds

Textmetadata
LicenceTDM
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.