Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity.

Λεπτομέρειες βιβλιογραφικής εγγραφής
Τίτλος:	Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity.
Συγγραφείς:	Zhang M; Medical Genetic and Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Li J; Medical Genetic and Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Ren C; Medical Genetic and Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Department of Obstetrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Liu Y; Medical Genetic and Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Bian W; Medical Genetic and Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Han X; Medical Genetic and Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Wang M; Medical Genetic and Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Chen X; Medical Genetic and Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Hu Y; Medical Genetic and Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Kan M; Medical Genetic and Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Liu L; Medical Genetic and Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Πηγή:	Prenatal diagnosis [Prenat Diagn] 2026 Sep; Vol. 46 (10), pp. 1565-1581. Date of Electronic Publication: 2026 Aug 06.
Τύπος έκδοσης:	Journal Article; Comparative Study
Γλώσσα:	English
Στοιχεία περιοδικού:	Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE
Imprint Name(s):	Original Publication: Chichester, [Sussex]; New York : Wiley, c1981-
Ιατρικοί όροι (MeSH):	Whole Genome Sequencing/methods , Loss of Heterozygosity/genetics , Prenatal Diagnosis/methods , Oligonucleotide Array Sequence Analysis/methods , Microarray Analysis*/methods, Humans ; Female ; Pregnancy
Περίληψη:	Objective: Absence of heterozygosity (AOH) is a clinically significant genomic feature often associated with uniparental disomy and parental consanguinity in the prenatal settings. Chromosomal microarray analysis (CMA) is commonly used for AOH detection, while sequencing-based approaches may provide complementary genomic information within a single assay. This study evaluated the performance of medium-coverage whole-genome sequencing (CNV-plus) for the detection of prenatal AOH. Methods: We analyzed 45 prenatal samples (35-CMA-positive, 10-CMA-negative). Concordance between CNV-plus and CMA was assessed at regional, genome-wide, and sample levels, with particular emphasis on the effect of AOH segment size. Results: CNV-plus detected 56 AOH regions compared with 65 by CMA, yielding 68 matched segments. Segment-level sensitivity was 86.8%, showing clear size dependence: 53.3% for 5-10 Mb regions and 96.2% for regions > 10 Mb. Genome-wide overlap was high (global Jaccard index = 0.871), although boundary resolution differed between methods. At the sample level, CNV-plus achieved 97.1% sensitivity and 100% specificity, with no significant difference from CMA. Conclusions: CNV-plus demonstrates good concordance with CMA for detecting larger AOH regions in prenatal samples and may serve as a complementary approach when considering its size-dependent performance. (© 2026 John Wiley & Sons Ltd.)
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Grant Information:	This work was supported by the Henan Provincial Key Research and Development Program, "Technology Development and Clinical Application of New Generation Non-Invasive Precision Screening for High-Risk Pregnant Women," funded by the Department of Science and Technology of Henan Province.
Entry Date(s):	Date Created: 20260806 Date Completed: 20260913 Latest Revision: 20260915
Update Code:	20260915
PubMed Central ID:	PMC13571803
DOI:	10.1002/pd.70218
PMID:	42559979
Βάση Δεδομένων:	MEDLINE

Περιγραφή
ISSN:	1097-0223
DOI:	10.1002/pd.70218