Evidence map›Paper›PMID 37872345›Full record

ArticleJournal of human genetics2024

Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers.

Aya Yamazaki, Tomoko Kuroda, Nami Kawasaki, Keiichi Kato, Keiko Shimojima Yamamoto, Takeshi Iwasa, Akira Kuwahara, Yuka Taniguchi, Toshiyuki Takeshita, Yosuke Kita and 3 more

Abstract read
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In one paragraph

Article in Journal of human genetics, 2024. 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

13 authors.

Aya YamazakiDivision of Gene Medicine, Graduate School of Medical Science, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.
Tomoko KurodaKato Ladies Clinic, Tokyo, 160-0023, Japan.
Nami KawasakiKato Ladies Clinic, Tokyo, 160-0023, Japan.
Keiichi KatoKato Ladies Clinic, Tokyo, 160-0023, Japan.
Keiko Shimojima YamamotoInstitute of Medical Genetics, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.ORCID http://orcid.org/0000-0003-2362-3844
Takeshi IwasaDepartment of Obstetrics and Gynecology, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, 770-0042, Japan.
Akira KuwaharaDepartment of Obstetrics and Gynecology, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, 770-0042, Japan.
Yuka TaniguchiDepartment of Obstetrics and Gynecology, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, 770-0042, Japan.
Toshiyuki TakeshitaDepartment of Obstetrics and Gynecology, Nippon Medical University, Tokyo, 113-8602, Japan.
Yosuke KitaDepartment of Psychology, Faculty of Letters, Keio University, Tokyo, 108-8345, Japan.
Mikio MikamiDepartment of Obstetrics and Gynecology, Tokai University School of Medicine, Kanagawa, 259-1143, Japan.ORCID http://orcid.org/0000-0002-7496-3518
Minoru IraharaDepartment of Obstetrics and Gynecology, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, 770-0042, Japan.
Toshiyuki YamamotoDivision of Gene Medicine, Graduate School of Medical Science, Tokyo Women's Medical University, Tokyo, 162-8666, Japan. yamamoto.toshiyuki@twmu.ac.jp.ORCID http://orcid.org/0000-0002-9484-3505

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Balanced chromosomal translocation is one of chromosomal variations. Carriers of balanced chromosomal translocations have an increased risk of spontaneous miscarriage. To avoid the risk, preimplantation genetic testing (PGT) using comprehensive genomic copy number analysis has been developed. This study aimed to verify whether and how embryos from couples in which one partner is a balanced translocation carrier have a higher ratio of chromosomal abnormalities. A total of 894 biopsied trophectoderms (TEs) were obtained from 130 couples in which one partner was a balanced translocation carrier (Robertsonian translocation, reciprocal translocation, or intrachromosomal inversion) and grouped as PGT-SR. Conversely, 3269 TEs from 697 couples who experienced recurrent implantation failure or recurrent pregnancy loss were included in the PGT-A group. The transferable blastocyst ratio was significantly lower in the PGT-SR group, even when bias related to the sample number and patient age was corrected. Subgroup analysis of the PGT-SR group revealed that the transferable blastocyst ratio was higher in the Robertsonian translocation group. Because the PGT-SR group had a higher proportion of untransferable embryos than the PGT-A group, PGT using comprehensive genomic copy number analysis was more beneficial for balanced translocation carriers than for infertility patients without chromosomal translocations. The frequencies of de novo aneuploidies were further analyzed, and the frequency in the PGT-SR group was lower than that in the PGT-A group. Therefore, we could not confirm the existence of interchromosomal effects in this study.

Indexed as

Abortion, HabitualPreimplantation DiagnosisBlastocystChromosome InversionDNA Copy Number VariationsFemaleFertilization in VitroGenetic TestingGenomicsHumansPregnancyRetrospective StudiesTranslocation, Genetic

Identifiers

PMID37872345

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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.