Evidence map›Paper›PMID 34888324›Full record

ArticleFrontiers in medicine2021

The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients.

Jessica Kang, Chien-Nan Lee, Yi-Ning Su, Ming-Wei Lin, Yi-Yun Tai, Wen-Wei Hsu, Kuan-Ying Huang, Chi-Ling Chen, Chien-Hui Hung, Shin-Yu Lin

Open access · goldAbstract read
In one paragraph

Article in Frontiers in medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.7field-weighted citation impact, top 27% 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

7 citing papers in PubMed, 7 citations in OpenAlex.

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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

10 authors at 2 institutions in 1 country.

Jessica KangDepartment of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan.
Chien-Nan LeeDepartment of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan.
Yi-Ning SuSofiva Genomics Co. Ltd., Taipei, Taiwan.
Ming-Wei LinDepartment of Obstetrics and Gynecology, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, Taiwan.
Yi-Yun TaiDepartment of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Wen-Wei HsuDepartment of Obstetrics and Gynecology, National Taiwan University Hospital Hospital Yun-Lin Branch, Yunlin, Taiwan.
Kuan-Ying HuangDepartment of Obstetrics and Gynecology, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, Taiwan.
Chi-Ling ChenDepartment of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan.
Chien-Hui HungDepartment of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan.
Shin-Yu LinDepartment of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan.
National Taiwan University Hospital · TWGenomics Research Center, Academia Sinica · TW

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Prenatal genetic counseling of fetuses diagnosed with 15q11.2 copy number variants (CNVs) involving the BP1-BP2 region is difficult due to limited information and controversial opinion on prognosis. In total, we collected the data of 36 pregnant women who underwent prenatal microarray analysis from 2010 to 2017 and were assessed at National Taiwan University Hospital. Comparison of the maternal characteristics, prenatal ultrasound findings, and postnatal outcomes among the different cases involving the 15q11.2 BP1-BP2 region were presented. Out of the 36 fetuses diagnosed with CNVs involving the BP1-BP2 region, five were diagnosed with microduplications and 31 with microdeletions. Among the participants, 10 pregnant women received termination of pregnancy and 26 gave birth to healthy individuals (27 babies in total). The prognoses of 15q11.2 CNVs were controversial and recent studies have revealed its low pathogenicity. In our study, the prenatal abnormal ultrasound findings were recorded in 12 participants and were associated with 15q11.2 deletions. No obvious developmental delay or neurological disorders were detected in early childhood.

Indexed as

15q11.2 microdeletion15q11.2 microduplicationBP1–BP2chromosome microarray analysis (CMA)copy number variantneurodevelopmentprenatal

Identifiers

PMID34888324
PMCPMC8649837
OpenAlexW3159893003

What OpenQuestion holds

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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.