Academic Journal
Prenatal SNP-array chromosomal microarray analysis in 3,549 pregnancies: indication-specific yields and clinical implications.
| Τίτλος: | Prenatal SNP-array chromosomal microarray analysis in 3,549 pregnancies: indication-specific yields and clinical implications. |
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| Συγγραφείς: | Tao Y; Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, 38 Weiyuanmen Road, Changzhi, Shanxi, 046000, China. yltao21@163.com.; Precision Medicine Research Division, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China. yltao21@163.com., Wei Y; Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, 38 Weiyuanmen Road, Changzhi, Shanxi, 046000, China., Yao Z; Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, 38 Weiyuanmen Road, Changzhi, Shanxi, 046000, China., Han D; Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, 38 Weiyuanmen Road, Changzhi, Shanxi, 046000, China., Wang L; Department of Pediatrics, Changzhi Maternal and Child Health Care Hospital, 38 Weiyuanmen Road, Changzhi, 046000, Shanxi, China., Song W; Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, 38 Weiyuanmen Road, Changzhi, Shanxi, 046000, China., Li X; Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, 38 Weiyuanmen Road, Changzhi, Shanxi, 046000, China. Lixiaoze520@126.com. |
| Πηγή: | BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2026 May 01; Vol. 26 (1). Date of Electronic Publication: 2026 May 01. |
| Τύπος έκδοσης: | Journal Article |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: BioMed Central Country of Publication: England NLM ID: 100967799 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2393 (Electronic) Linking ISSN: 14712393 NLM ISO Abbreviation: BMC Pregnancy Childbirth Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: London : BioMed Central, [2001- |
| Ιατρικοί όροι (MeSH): | Prenatal Diagnosis*/methods , Microarray Analysis*/methods , Chromosome Disorders*/diagnosis , Chromosome Disorders*/genetics , Polymorphism, Single Nucleotide*, Humans ; Female ; Pregnancy ; Retrospective Studies ; Adult ; Aneuploidy ; Advanced Maternal Age ; Ultrasonography, Prenatal ; Oligonucleotide Array Sequence Analysis ; DNA Copy Number Variations |
| Περίληψη: | Background: SNP-based chromosomal microarray analysis (CMA) is widely used in invasive prenatal diagnosis, yet real-world performance across contemporary referral pathways, especially in the NIPT era, remains incompletely characterized. Methods: We retrospectively analyzed 3,549 prenatal invasive samples tested by SNP array, and evaluated diagnostic yield overall and by referral indication and ultrasound phenotype. Results: In total, we identified 398 pathogenic or likely pathogenic (P/LP) variants across 386 fetuses, resulting in an overall diagnostic yield of 10.9% (386/3,549). These findings comprised 223 aneuploidies and 175 pathogenic CNVs. In contrast, variants of uncertain significance (VOUS) were detected in 12.0% (426/3,549) of cases. Diagnostic yields were heavily stratified by indication: yields peaked in NIPT high-risk referrals (38.9%) and were intermediate in ultrasound-based cases (~ 11%), but dropped significantly in the advanced maternal age (AMA; 4.2%) and serum screening (~ 5-6%) groups. Conversely, VOUS rates remained remarkably stable across all referral categories. Sub-analysis of ultrasound abnormalities revealed that multisystem anomalies conferred the highest risk (27.3%), driven predominantly by aneuploidies; among soft markers, increased nuchal translucency (NT) emerged as the strongest predictor of chromosomal pathology. Conclusions: In our cohort, SNP-array identified clinically actionable findings in 10.9% of cases. NIPT enriched diagnostic yields, particularly for aneuploidies, and NT thickness was strongly associated with pathogenic findings. These results support an indication-based approach to genomic testing, with NIPT as a triage tool for aneuploidy and CMA for high-risk populations, while improving VOUS counseling. (© 2026. The Author(s).) |
| Competing Interests: | Declarations. Ethics approval and consent to participate: This study was approved by the Clinical Research Ethics Committee of Changzhi Maternal and Child Health Care Hospital. Written informed consent was obtained from all participating pregnant women (and/or their legal guardians, where applicable). Consent for publication: Not applicable. Competing interests: The authors declare no competing interests. |
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| Grant Information: | 2021XM57 Scientific Research Foundation of the Health Commission of Shanxi Province; 202303021222374 Fundamental Research Program of Shanxi Province |
| Contributed Indexing: | Keywords: Chromosomal microarray analysis; Copy number variants; Non-invasive prenatal testing; Prenatal diagnosis; SNP Array |
| Entry Date(s): | Date Created: 20260501 Date Completed: 20260901 Latest Revision: 20260903 |
| Update Code: | 20260903 |
| PubMed Central ID: | PMC13531756 |
| DOI: | 10.1186/s12884-026-09187-x |
| PMID: | 42067806 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 1471-2393 |
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| DOI: | 10.1186/s12884-026-09187-x |