Evidence map›Paper›PMID 41241929›Full record

ArticlePrenatal diagnosis2026

Spinal Muscular Atrophy Carrier Screening: Assessment of Provider Knowledge and Clinical Practice.

Melissa Riegel, Whitney Bender, Elizabeth Critchlow, Lorraine Dugoff

Abstract read
In one paragraph

Article in Prenatal diagnosis, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

4 authors.

Melissa RiegelDepartment of Obstetrics and Gynecology, Perelman School of Medicine, Division of Maternal Fetal Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.ORCID 0009-0002-9312-9024
Whitney BenderDepartment of Obstetrics and Gynecology, Sidney Kimmel Medical College, Division of Maternal Fetal Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.ORCID 0000-0001-5991-0381
Elizabeth CritchlowDepartment of Obstetrics and Gynecology, Perelman School of Medicine, Division of Maternal Fetal Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.ORCID 0000-0002-4433-7014
Lorraine DugoffDepartment of Obstetrics and Gynecology, Perelman School of Medicine, Division of Maternal Fetal Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.ORCID 0000-0003-3638-036X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveThe American College of Obstetricians and Gynecologists (ACOG) recommends offering spinal muscular atrophy (SMA) carrier screening (CS) preconception or prenatally. This study aimed to determine provider knowledge of SMA and SMA CS practice patterns and to describe the relationship between knowledge and comfort while discussing screening and results.

methodPrenatal providers completed an anonymous web-based survey on SMA knowledge, CS practice patterns, and comfort in interpretation of results. Data were summarized with descriptive statistics. The relationship between provider training and SMA knowledge with provider comfort was analyzed.

results75% (112/150) of providers responded and 64.6% completed the survey. Participants varied in roles and years of experience. The mean score on knowledge was 3.8/8 (47.5%) with 20.6% of respondents scoring ≥ 75% and 51.6% scoring ≥ 50%. Knowledge did not vary with years of experience. Although 91.3% of providers offer SMA screening, less than 25% reported complete comfort discussing screening and results. Comfort correlated with role and experience. Providers who felt completely comfortable discussing SMA screening had higher knowledge scores.

conclusionAlthough the majority of providers offer SMA CS, provider knowledge regarding SMA is low, and most are not comfortable discussing screening and results.

Indexed as

Clinical CompetenceGenetic Carrier ScreeningHealth Knowledge, Attitudes, PracticeMuscular Atrophy, SpinalPractice Patterns, Physicians'Prenatal DiagnosisAdultFemaleHumansMalePregnancySurveys and Questionnaires

Identifiers

PMID41241929
PMCPMC12880960

What OpenQuestion holds

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LicenceCC BY
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.