Evidence map›Paper›PMID 42682151›Full record

ArticleJournal of genetic counseling2026

Prenatal Test Selection After First-Trimester Ultrasound Abnormalities Within a Centralized Genetic Counseling System in Japan.

Koutarou Doi, Masatoshi Yamaguchi, Minayo Iwai, Chiharu Terakawa, Shinya Makino, Ruriko Maruyama, Kazumi Kusumoto, Kensei Sato, Kayo Tomimori, Yuma Goto and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of genetic counseling, 2026. 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
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.

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

15 authors.

Koutarou DoiDepartment of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.ORCID https://orcid.org/0000-0002-9641-8860
Masatoshi YamaguchiDepartment of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.ORCID https://orcid.org/0000-0003-3548-8176
Minayo IwaiDivision of Clinical Genetics, University of Miyazaki Hospital, Miyazaki, Japan.
Chiharu TerakawaDivision of Clinical Genetics, University of Miyazaki Hospital, Miyazaki, Japan.
Shinya MakinoDivision of Clinical Genetics, University of Miyazaki Hospital, Miyazaki, Japan.
Ruriko MaruyamaDepartment of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Kazumi KusumotoDivision of Clinical Genetics, University of Miyazaki Hospital, Miyazaki, Japan.
Kensei SatoDepartment of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Kayo TomimoriDepartment of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Yuma GotoDepartment of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Tomoko GotoDepartment of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Satoshi MatsuzawaDepartment of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Midori FujisakiDepartment of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Yuki KodamaDepartment of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.ORCID https://orcid.org/0000-0002-5657-1473
Shinji KatsuragiDepartment of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.ORCID https://orcid.org/0009-0004-1609-1995

Funding

University of Miyazaki Hospital
6 · The paper itself

Abstract

This study evaluated the association between first-trimester ultrasound abnormalities and prenatal test selection within a centralized genetic counseling system in Japan. Advances in ultrasound screening and the increasing use of non-invasive prenatal testing (NIPT) have expanded prenatal testing options, increasing the complexity of test selection in pregnancies with abnormal ultrasound findings. This retrospective cohort study included 87 pregnant women referred for genetic counseling because of abnormal first-trimester ultrasound findings between July 2022 and December 2025. All patients received standardized prenatal genetic counseling. Clinical data were extracted from the medical records, and factors associated with the selection of invasive diagnostic testing were analyzed using multivariable logistic regression. Amniocentesis was selected in 41 pregnancies (47.1%), NIPT in 28 (32.2%), and no chromosomal testing in 18 (20.7%). Chromosomal abnormalities were identified in 15 of 41 pregnancies (36.6%) undergoing amniocentesis. Cystic hygroma was independently associated with the selection of invasive diagnostic testing (odds ratio [OR] 3.10, 95% confidence interval [CI] 1.09-9.15), whereas increased nuchal translucency was negatively associated (OR 0.35, 95% CI 0.13-0.90). These findings suggest that the type of first-trimester ultrasound abnormality is associated with prenatal test selection. Our results highlight the importance of individualized genetic counseling when discussing prenatal testing options and residual uncertainty following abnormal ultrasound findings.

Indexed as

Genetic CounselingPregnancy Trimester, FirstPrenatal DiagnosisUltrasonography, PrenatalAdultAmniocentesisFemaleGenetic TestingHumansJapanPregnancyRetrospective Studiesgenetic counselingnon‐invasive prenatal testingnuchal translucencyprenatal testingprenatal ultrasonography

Identifiers

PMID42682151
PMCPMC13535476

What OpenQuestion holds

Textmetadata
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.