ArticlePrenatal diagnosis2025
A Prospective Evaluation of the Diagnostic Utility for Low-Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis.
Article in Prenatal diagnosis, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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.
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Who cites it
2 citing papers in PubMed.
- Prenatal Whole-Genome Sequencing for Fetal Anomalies: Diagnostic Performance, Challenges, and Clinical Implications.International journal of molecular sciences · 2026Review
- Advancing Prenatal Diagnosis: From Conventional Karyotyping to Genome-Wide CNV Analysis.Life (Basel, Switzerland) · 2026Review
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
objectiveThe present study aimed to evaluate the efficacy of LC-GS in detecting clinically relevant chromosomal abnormalities in comparison with conventional CMA within a prenatal context.
methodsWe conducted a prospective study involving 200 amniotic fluid samples. All specimens were analyzed via LC-GS and traditional tests, including CMA and karyotyping. LC-GS was performed with 3X coverage to gauge its proficiency in identifying copy number variations (CNVs), aneuploidies, regions of homozygosity (ROH), and chromosome mosaicism. Data from both methods were compared to evaluate their sensitivity, specificity, and overall clinical utility.
resultsLC-GS at a depth of 3X identified a total of 77 positive samples, yielding a detection rate of 38.5% (77/200). This included 17 cases of aneuploidy, 36 instances of CNVs, 20 cases linked to ROH, and 8 cases of chromosomal mosaicism. LC-GS demonstrated high concordance with CMA in aneuploidy, CNVs, ROH, and chromosomal mosaicism, achieving a diagnostic yield of 21% (42/200), with additional benefits of reduced cost. Moreover, LC-GS outperformed CMA in terms of resolution for identifying submicroscopic CNVs.
conclusionLC-GS presents a robust alternative to CMA for prenatal diagnosis, effectively identifying aneuploidies, CNVs, chromosomal mosaicism, and ROH. It delivers comparable sensitivity and specificity in the detection of a wide spectrum of genomic abnormalities.
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