Evidence map›Paper›PMID 38269131›Full record

ArticleAJP reports2024

Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report.

Amna Iftikhar, Kathleen Barnes, Melissa Figueroa, Antonia P Francis

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in AJP reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 99% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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 at 1 institution in 1 country.

Amna IftikharDepartment of Obstetrics and Gynecology, Hackensack University Medical Center, Hackensack, New Jersey.
Kathleen BarnesCenter for Genetic and Genomic Medicine, Hackensack University Medical Center, Hackensack, New Jersey.
Melissa FigueroaDivision of Family Planning, Hackensack University Medical Center, Hackensack, New Jersey.
Antonia P FrancisDivision of Obstetrics and Gynecology, Department of Maternal Fetal Medicine, Hackensack University Medical Center, Hackensack, New Jersey.
Hackensack University Medical Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cornelia de Lange's syndrome (CDLS) is a multisystem genetic syndrome characterized by well-defined physical, intellectual, and behavioral characteristics. The diagnosis of CDLS is typically done clinically after birth; however, recent studies have demonstrated the ability to use prenatal ultrasound and whole-exome sequencing to diagnose CDLS prenatally. Here we present a prenatal case in which multiple fetal anomalies were identified on ultrasound at 20 weeks of gestation. Use of whole-exome sequencing allowed for successful diagnosis of CDLS in this fetus prenatally.

Indexed as

cohesinopathiesCornelia de Lange's syndromeprenatal diagnosisprenatal ultrasoundwhole-exome sequencing

Identifiers

PMID38269131
PMCPMC10805567
OpenAlexW4391127392

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.