Evidence map›Paper›PMID 37598172›Full record

ArticleBMC pregnancy and childbirth2023

Defining the scope of extended NIPS in Western China: evidence from a large cohort of fetuses with normal ultrasound scans.

Lin Chen, Li Wang, Yang Zeng, Daishu Yin, Feng Tang, Dan Xie, Hongmei Zhu, Hongqian Liu, Jing Wang

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC pregnancy and childbirth, 2023. 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

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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

9 authors.

Lin ChenDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.
Li WangDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.
Yang ZengDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.
Daishu YinDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.
Feng TangDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.
Dan XieDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.
Hongmei ZhuDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.
Hongqian LiuDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.
Jing WangDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, 610041, China. hhwj_123@163.com.

Funding

National Key R&D Program of China 2021YFC1005300Program of Science and Technology Department of Sichuan 2022YFS0244
6 · The paper itself

Abstract

backgroundStandard noninvasive prenatal screening(NIPS) is an accurate and reliable method to screen for common chromosome aneuploidies, such as trisomy 21, 18 and 13. Extended NIPS has been used in clinic for not only aneuploidies but also copy number variants(CNVs). Here we aim to define the range of chromosomal abnormalities that should be able to identify by NIPS in order to be an efficient extended screening test for chromosomal abnormalities.

methodsA prospective study was conducted, involving pregnant women without fetal sonographic structural abnormalities who underwent amniocentesis. Prenatal samples were analyzed using copy number variation sequencing(CNV-seq) to identify fetal chromosomal abnormalities.

resultsOf 28,469 pregnancies included 1,022 (3.59%) were identified with clinically significant fetal chromosome abnormalities, including 587 aneuploidies (2.06%) and 435 (1.53%) pathogenic (P) / likely pathogenic (LP) CNVs. P/LP CNVs were found in all chromosomes, but the distribution was not uniform. Among them, P/LP CNVs in chromosomes 16, 22, and X exhibited the highest frequencies. In addition, P/LP CNVs were most common on distal ends of the chromosomes and in low copy repeat regions. Recurrent microdeletion/microduplication syndromes (MMS) accounted for 40.69% of total P/LP CNVs. The size of most P/LP CNVs (77.47%) was < 3 Mb.

conclusionsIn addition to aneuploidies, the scope of extended NIPS should include the currently known P/LP CNVs, especially the regions with recurrent MMS loci, distal ends of the chromosomes, and low copy repeat regions. To be effective detection should include CNVs of < 3 Mb. Meanwhile, sufficient preclinical validation is still needed to ensure the clinical effect of extended NIPS.

Indexed as

DNA Copy Number VariationsFetusAneuploidyChinaChromosome AberrationsFemaleHumansPregnancyProspective StudiesExtended noninvasive prenatal screeningFetusInvasive prenatal diagnosisNoninvasive prenatal screening (NIPS)Pathogenic/likely pathogenic copy number variants (P/LP CNVs)

Identifiers

PMID37598172
PMCPMC10439619

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