Evidence map›Paper›PMID 39444647›Full record

ArticleNeurology. Genetics2024

Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing.

Matthew A Shear, Monica Penon-Portmann, Joseph T Shieh, Orit A Glenn, Mari-Paule Thiet, Shilpa Chetty, Teresa N Sparks, Dawn Gano

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Review
  3. 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

8 authors.

Matthew A ShearFrom the Department of Obstetrics, Gynecology, and Reproductive Sciences (M.A.S., M.-P.T., S.C., T.N.S.); Division of Medical Genetics (M.A.S., M.P.-P., J.T.S.), Department of Pediatrics, University of California, San Francisco; Division of Genetic Medicine (M.P.-P.), Department of Pediatrics, University of Washington, Seattle; Fetal Treatment Center (M.A.S., S.C., T.N.S.), Division of Maternal-Fetal Medicine and Reproductive Genetics; Center for Maternal Fetal Precision Medicine (M.A.S., D.G.); Departments of Neurology and Pediatrics (O.A.G., D.G.); and Department of Radiology and Biomedical Imaging (O.A.G.), University of California, San Francisco.ORCID https://orcid.org/0000-0003-4134-5665
Monica Penon-PortmannFrom the Department of Obstetrics, Gynecology, and Reproductive Sciences (M.A.S., M.-P.T., S.C., T.N.S.); Division of Medical Genetics (M.A.S., M.P.-P., J.T.S.), Department of Pediatrics, University of California, San Francisco; Division of Genetic Medicine (M.P.-P.), Department of Pediatrics, University of Washington, Seattle; Fetal Treatment Center (M.A.S., S.C., T.N.S.), Division of Maternal-Fetal Medicine and Reproductive Genetics; Center for Maternal Fetal Precision Medicine (M.A.S., D.G.); Departments of Neurology and Pediatrics (O.A.G., D.G.); and Department of Radiology and Biomedical Imaging (O.A.G.), University of California, San Francisco.
Joseph T ShiehFrom the Department of Obstetrics, Gynecology, and Reproductive Sciences (M.A.S., M.-P.T., S.C., T.N.S.); Division of Medical Genetics (M.A.S., M.P.-P., J.T.S.), Department of Pediatrics, University of California, San Francisco; Division of Genetic Medicine (M.P.-P.), Department of Pediatrics, University of Washington, Seattle; Fetal Treatment Center (M.A.S., S.C., T.N.S.), Division of Maternal-Fetal Medicine and Reproductive Genetics; Center for Maternal Fetal Precision Medicine (M.A.S., D.G.); Departments of Neurology and Pediatrics (O.A.G., D.G.); and Department of Radiology and Biomedical Imaging (O.A.G.), University of California, San Francisco.ORCID https://orcid.org/0000-0003-0746-6084
Orit A GlennFrom the Department of Obstetrics, Gynecology, and Reproductive Sciences (M.A.S., M.-P.T., S.C., T.N.S.); Division of Medical Genetics (M.A.S., M.P.-P., J.T.S.), Department of Pediatrics, University of California, San Francisco; Division of Genetic Medicine (M.P.-P.), Department of Pediatrics, University of Washington, Seattle; Fetal Treatment Center (M.A.S., S.C., T.N.S.), Division of Maternal-Fetal Medicine and Reproductive Genetics; Center for Maternal Fetal Precision Medicine (M.A.S., D.G.); Departments of Neurology and Pediatrics (O.A.G., D.G.); and Department of Radiology and Biomedical Imaging (O.A.G.), University of California, San Francisco.ORCID https://orcid.org/0000-0002-4642-1252
Mari-Paule ThietFrom the Department of Obstetrics, Gynecology, and Reproductive Sciences (M.A.S., M.-P.T., S.C., T.N.S.); Division of Medical Genetics (M.A.S., M.P.-P., J.T.S.), Department of Pediatrics, University of California, San Francisco; Division of Genetic Medicine (M.P.-P.), Department of Pediatrics, University of Washington, Seattle; Fetal Treatment Center (M.A.S., S.C., T.N.S.), Division of Maternal-Fetal Medicine and Reproductive Genetics; Center for Maternal Fetal Precision Medicine (M.A.S., D.G.); Departments of Neurology and Pediatrics (O.A.G., D.G.); and Department of Radiology and Biomedical Imaging (O.A.G.), University of California, San Francisco.
Shilpa ChettyFrom the Department of Obstetrics, Gynecology, and Reproductive Sciences (M.A.S., M.-P.T., S.C., T.N.S.); Division of Medical Genetics (M.A.S., M.P.-P., J.T.S.), Department of Pediatrics, University of California, San Francisco; Division of Genetic Medicine (M.P.-P.), Department of Pediatrics, University of Washington, Seattle; Fetal Treatment Center (M.A.S., S.C., T.N.S.), Division of Maternal-Fetal Medicine and Reproductive Genetics; Center for Maternal Fetal Precision Medicine (M.A.S., D.G.); Departments of Neurology and Pediatrics (O.A.G., D.G.); and Department of Radiology and Biomedical Imaging (O.A.G.), University of California, San Francisco.
Teresa N SparksFrom the Department of Obstetrics, Gynecology, and Reproductive Sciences (M.A.S., M.-P.T., S.C., T.N.S.); Division of Medical Genetics (M.A.S., M.P.-P., J.T.S.), Department of Pediatrics, University of California, San Francisco; Division of Genetic Medicine (M.P.-P.), Department of Pediatrics, University of Washington, Seattle; Fetal Treatment Center (M.A.S., S.C., T.N.S.), Division of Maternal-Fetal Medicine and Reproductive Genetics; Center for Maternal Fetal Precision Medicine (M.A.S., D.G.); Departments of Neurology and Pediatrics (O.A.G., D.G.); and Department of Radiology and Biomedical Imaging (O.A.G.), University of California, San Francisco.
Dawn GanoFrom the Department of Obstetrics, Gynecology, and Reproductive Sciences (M.A.S., M.-P.T., S.C., T.N.S.); Division of Medical Genetics (M.A.S., M.P.-P., J.T.S.), Department of Pediatrics, University of California, San Francisco; Division of Genetic Medicine (M.P.-P.), Department of Pediatrics, University of Washington, Seattle; Fetal Treatment Center (M.A.S., S.C., T.N.S.), Division of Maternal-Fetal Medicine and Reproductive Genetics; Center for Maternal Fetal Precision Medicine (M.A.S., D.G.); Departments of Neurology and Pediatrics (O.A.G., D.G.); and Department of Radiology and Biomedical Imaging (O.A.G.), University of California, San Francisco.ORCID https://orcid.org/0000-0003-4192-2362

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Congenital myotonic dystrophy type 1 (DM1) is a rare congenital neuromuscular disorder associated with high morbidity and potential early mortality requiring lifelong symptomatic management. Prenatal presentations of DM1 have been associated with nonspecific ultrasound findings such as clubbed foot, polyhydramnios, ventriculomegaly, and decreased fetal movement, but many cases of DM1 have no ultrasound anomalies. Methods: We sought to compare the clinical course and prenatal imaging findings in two cases of DM1 using retrospective chart review. Results: This report demonstrates potential expansion of the prenatal phenotype of DM1 including fetal SVT and frontal bossing. Both cases shared unique prenatal imaging features of lateral ventricle dilation involving the anterior bodies and frontal horns on fetal MRI. Discussion: Because congenital DM1 is most often maternally inherited, attention to maternal symptoms, physical examination, and family history can be helpful in recognizing cases. Molecular diagnosis of DM1 requires specialized testing of the 3' untranslated region of the DMPK gene, and DM1 will not be detected by current standard prenatal genetic testing with microarray, karyotype, or exome sequencing.

Identifiers

PMID39444647
PMCPMC11498903

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