Evidence map›Paper›PMID 33574353›Full record

ArticleScientific reports2021

Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.

Nana Akiyama, Masaru Shimura, Taro Yamazaki, Hiroko Harashima, Takuya Fushimi, Tomoko Tsuruoka, Tomohiro Ebihara, Keiko Ichimoto, Ayako Matsunaga, Megumi Saito-Tsuruoka and 9 more

Erratum issuedOpen access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.2field-weighted citation impact, top 49% 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, 3 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

19 authors at 6 institutions in 1 country.

Nana AkiyamaCenter for Medical Genetics, Chiba Children's Hospital, Chiba, Japan.
Masaru ShimuraDepartment of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba, 266-0007, Japan.
Taro YamazakiDepartment of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama, Japan.
Hiroko HarashimaDepartment of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama, Japan.
Takuya FushimiDepartment of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba, 266-0007, Japan.
Tomoko TsuruokaDepartment of Neonatology, Chiba Children's Hospital, Chiba, Japan.
Tomohiro EbiharaDepartment of Neonatology, Chiba Children's Hospital, Chiba, Japan.
Keiko IchimotoDepartment of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba, 266-0007, Japan.
Ayako MatsunagaDepartment of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba, 266-0007, Japan.
Megumi Saito-TsuruokaDepartment of Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan.
Yukiko YatsukaDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Yoshihito KishitaDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Masakazu KohdaDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Akira NambaDepartment of Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan.
Yoshimasa KameiDepartment of Obstetrics and Gynecology, Saitama Medical University Hospital, Saitama, Japan.
Yasushi OkazakiDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Shinji KosugiDepartment of Medical Genetics/Medical Ethics, Kyoto University School of Public Health, Kyoto, Japan.
Akira OhtakeDepartment of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama, Japan. akira_oh@saitama-med.ac.jp.
Kei MurayamaCenter for Medical Genetics, Chiba Children's Hospital, Chiba, Japan. kmuraya@mri.biglobe.ne.jp.
Chiba Hospital · JPSaitama Medical University Hospital · JPJuntendo University · JPKyoto University · JPSaitama Medical University · JPKindai University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Prenatal diagnoses of mitochondrial diseases caused by defects in nuclear DNA (nDNA) or mitochondrial DNA have been reported in several countries except for Japan. The present study aimed to clarify the status of prenatal genetic diagnosis of mitochondrial diseases caused by nDNA defects in Japan. A comprehensive genomic analysis was performed to diagnose more than 400 patients, of which, 13 families (16 cases) had requested prenatal diagnoses. Eight cases diagnosed with wild type homozygous or heterozygous variants same as either of the heterozygous parents continued the pregnancy and delivered healthy babies. Another eight cases were diagnosed with homozygous, compound heterozygous, or hemizygous variants same as the proband. Of these, seven families chose to terminate the pregnancy, while one decided to continue the pregnancy. Neonatal- or infantile-onset mitochondrial diseases show severe phenotypes and lead to lethality. Therefore, such diseases could be candidates for prenatal diagnosis with careful genetic counseling, and prenatal testing could be a viable option for families.

Indexed as

Prenatal DiagnosisConnexinsFemaleGenetic CounselingGenetic TestingHeterozygoteHomozygoteHumansMaleMitochondrial DiseasesMutationPedigreePregnancySeverity of Illness IndexConnexins

Identifiers

PMID33574353
PMCPMC7878886
OpenAlexW3128917149

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Registered trials

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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.