ArticleArchives of gynecology and obstetrics2026
NIPT-based prenatal screening of maternal Xq28 copy number variations in a cohort of 80,371 pregnancies.
Article in Archives of gynecology and obstetrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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.
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.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors.
Funding
Abstract
purposeCopy number variation (CNVs) can result in various genomic diseases and variable clinical phenotypes. This study aimed to assess the feasibility and reliability of noninvasive prenatal testing (NIPT) for prenatal screening of maternal copy number variation (CNVs) involving the Xq28 recurrent region.
methodsIn this retrospective, single-center study, we analyzed the NIPT data of 80,371 pregnant women to detect the maternal CNVs from 2017 to 2022. Maternal CNVs involving the int22h1/int22h2-mediated chromosome Xq28 recurrent region detected by NIPT were focused on. Chromosomal microarray analysis (CMA) was then performed to validate NIPT results if the remaining maternal lymphocytes were available.
resultsA total of 48 (0.060%, 95% CI 0.045% ~ 0.079%) maternal CNVs involving int22h1/int22h2-mediated chromosome Xq28 recurrent region were identified by NIPT, including 29 (0.036%, 95% CI 0.025% ~ 0.052%) pathogenic deletions sizing from 128.1 kb to 93,244.3 kb, 17 (0.021%, 95% CI 0.013% ~ 0.034%) pathogenic duplications sizing from 442.5 kb to 2059.1 kb and two (0.002%, 95% CI 0.000% ~ 0.009%) variants of uncertain significance (VOUS) sizing from 215.2 kb to 326.1 kb. The detection rates of typical Xq28 recurrent microdeletions and microduplications were 0.005% (4/80,371, 95% CI 0.002% ~ 0.013%) and 0.006% (5/80,371, 95% CI 0.003% ~ 0.015%), respectively. Chromosomal microarray analysis (CMA) was performed to validate NIPT results in 22 cases for which remaining maternal lymphocytes were available. The positive predictive value (PPV) of NIPT for maternal CNV's detection in the 22 cases was 100.0% (95% CI 85.1% ~ 100.0%).
conclusionsThis study illustrated the feasibility and potential of NIPT to detect maternal CNVs involving the Xq28 recurrent region.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.