Evidence map›Paper›PMID 32643293›Full record

ArticleThe journal of obstetrics and gynaecology research2020

Fetus of 8q22.2q24.3 duplication and 13q33.2q34 deletion derived from a maternal balanced translocation.

Tong Liu, Huihui Xie, Jingbo Zhang, Xia Wang, Jing Sha, Jingfang Zhai

Open access · hybridAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in The journal of obstetrics and gynaecology research, 2020. 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
1.6field-weighted citation impact, top 16% of its field
1 · What the graph read from it

What it found

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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, 5 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

6 authors at 1 institution in 1 country.

Tong LiuDepartment of Prenatal Diagnosis Medical Center, XuZhou Central Hospital, XuZhou Clinical School of Xuzhou Medical University, Jiangsu, China.
Huihui XieDepartment of Prenatal Diagnosis Medical Center, XuZhou Central Hospital, XuZhou Clinical School of Xuzhou Medical University, Jiangsu, China.
Jingbo ZhangDepartment of Prenatal Diagnosis Medical Center, XuZhou Central Hospital, XuZhou Clinical School of Xuzhou Medical University, Jiangsu, China.
Xia WangDepartment of Prenatal Diagnosis Medical Center, XuZhou Central Hospital, XuZhou Clinical School of Xuzhou Medical University, Jiangsu, China.
Jing ShaDepartment of Prenatal Diagnosis Medical Center, XuZhou Central Hospital, XuZhou Clinical School of Xuzhou Medical University, Jiangsu, China.
Jingfang ZhaiDepartment of Prenatal Diagnosis Medical Center, XuZhou Central Hospital, XuZhou Clinical School of Xuzhou Medical University, Jiangsu, China.
Xuzhou Medical College · CN

Funding

Jiangsu Province Maternal and Child Health Research Project F201942Wu Jieping Medical Foundation 320.6750.19089-18
6 · The paper itself

Abstract

The concomitant occurrence of 8q duplication and 13q deletion is the first to be detected by noninvasive prenatal testing (NIPT) to date. Through case analysis, we could provide a clinical approach to pregnant women with chromosomal abnormalities revealed by NIPT. The combination of traditional karyotype and copy number variation sequencing (CNV-seq) could better locate the abnormal chromosomal region and further identify the source of fetal chromosomal abnormalities. Simultaneously, we evaluated the fetal morphology by ultrasound examination. The karyotype of the fetus was 46,XY,der(13)t(8;13)(q22;q32)mat and CNV-seq results showed that there was an approximately 45.26-Mb duplication in 8q22.2-q24.3 (101040001-146 300 000) and an approximately 9.54-Mb deletion in 13q33.2-q34 (105560001-115 100 000). Prenatal ultrasound revealed the fetal structural abnormalities presented with hypoplasia of the cerebellar vermis, a flat nose, echogenic bowel and absent gallbladder. Herein, we consider that combination detection of traditional karyotyping, CNV-seq and ultrasonography provides a valuable method for pregnant women with abnormal NIPT.

Indexed as

Chromosome DisordersDNA Copy Number VariationsFemaleFetusHumansKaryotypingPregnancyPrenatal Diagnosis13q deletion8q duplicationcopy number variations sequencingnoninvasive prenatal testingultrasonography

Identifiers

PMID32643293
PMCPMC7496467
OpenAlexW3041821126

What OpenQuestion holds

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LicenceCC BY
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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.