Evidence map›Paper›PMID 42596956›Full record

ReviewPregnancy (Hoboken, N.J.)2026

Pathways to enhancing prenatal diagnosis of skeletal dysplasias.

Michelle Joy Wang, Christina Jacobsen, Jennifer Arnold, Ronald J Wapner, Deborah Krakow

Abstract readReview
In one paragraph

Review in Pregnancy (Hoboken, N.J.), 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

5 authors.

Michelle Joy WangDivision of Maternal Fetal Medicine Beth Israel Deaconess Medical Center Boston Massachusetts USA.ORCID https://orcid.org/0000-0002-5177-8109
Christina JacobsenDivision of Genetics and Genomics Boston Children's Hospital Boston Massachusetts USA.
Jennifer ArnoldDepartment of Pediatrics Harvard Medical School Boston Massachusetts USA.
Ronald J WapnerDivision of Maternal Fetal Medicine Columbia University Medical Center New York New York USA.
Deborah KrakowDepartments of Human Genetics Obstetrics and Gynecology and Orthopedic Surgery David Geffen School of Medicine at University of California Los Angeles Los Angeles California USA.ORCID https://orcid.org/0000-0001-9906-4968

Funding

Project 3: 3D ImagingU54AR068069 · NIAMS · BAYLOR COLLEGE OF MEDICINE · PI Brendan Lee · 2014 to 2026
$19.3M
Prenatal Genetic Diagnosis by Genomic Sequencing: A Prospective EvaluationR01HD055651 · NICHD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Wendy K Chung, Vaidehi Jobanputra · 2007 to 2026
$16.5M
TRAINING GRANT IN GENETICST32GM007748 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI Anne O'Donnell-Luria, Louise Wilkins-Haug · 1985 to 2026
$12.0M
Collagen Proteostasis in Health and DiseaseR01AR082995 · NIAMS · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI Matthew Donald Shoulders · 2024 to 2026
$1.9M
NIAMS NIH HHS R01 AR082995NIAMS NIH HHS U54 AR068069NICHD NIH HHS R01 HD055651NIGMS NIH HHS T32 GM007748
6 · The paper itself

Abstract

Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to postnatal radiographs as well as the known allelic heterogeneity and phenotypic variability underlying these conditions. Historically, the sonographic approach for phenotyping these conditions lacked genotypic specificity and counseling focused on predicting perinatal lethality. However, recent advances in genomic medicine and prenatal ultrasound resolution have enabled more precise diagnosis and individualized counseling. The following review provides a comprehensive overview of best practices for prenatal ultrasonography and molecular work-up for skeletal dysplasias and provides a standardized evidence-based framework for evaluation.

Indexed as

geneticsgenetic testingprenatal diagnosiskeletal dysplasiaultrasound

Identifiers

PMID42596956
PMCPMC13344297

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.