Observational studyMedical science monitor : international medical journal of experimental and clinical research2026
Clinical Implications and Limitations of Noninvasive Prenatal Testing for Detecting Fetal Copy Number Variations: A Multicenter Study in Shaanxi Province, China.
Observational study in Medical science monitor : international medical journal of experimental and clinical research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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
1 citing paper in PubMed.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND This study evaluated the real-world diagnostic performance and limitations of noninvasive prenatal testing (NIPT) in detecting fetal copy number variations (CNVs) within a large multicenter cohort in Shaanxi Province. MATERIAL AND METHODS This retrospective observational study analyzed 18 525 cases of NIPT at the First Affiliated Hospital of Xi'an Jiaotong University, a referral center for NIPT, from June 2023 to November 2024. Karyotype analysis and CNV sequencing were conducted on the fetuses and/or parents, with follow-up on pregnancy outcomes. RESULTS Abnormal CNVs were detected in 218 cases (1.18%; 218/18525), of which 129 women (59.17%; 129/218) opted for invasive diagnostic confirmation from 38 hospitals in 7 prefectural-level cities. The positive predictive value (PPV) for aberrant CNVs following NIPT was only 48.06% (62/129; 95% CI, 39.4-56.7%), with 28.57% (18/62) possessing pathogenic CNVs. We noted that PPV estimates were based on self-selected confirmatory testing, which might inflate or deflate performance estimates. The detection efficiency varied significantly by chromosomal location; chromosome 18 showed the highest PPV at 83.33% (15/18; P<0.05), notably within the 18p11.23-p11.31 segment. Furthermore, smaller CNVs (<5 Mb) demonstrated a higher concordance rate (PPV 54.74%; 52/95) than larger fragments (>10 Mb). Regional analysis indicated Hanzhong and Xi'an demonstrated elevated PPVs, while Yulin showed the highest incidence of pathogenic CNVs. CONCLUSIONS NIPT demonstrates moderate performance for fetal CNV detection, with a PPV of approximately 48%. Its clinical utility is maximized when combined with ultrasound findings, which significantly increase the predictive value. The stakeholders should be aware of this limitation when interpreting results.
Indexed as
Identifiers
What Socratic 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 Socratic graph.