ArticleBMC pregnancy and childbirth2025
Diagnostic performance of chromosomal microarray and whole exome sequencing in fetal structural anomalies: a single-center retrospective study.
Article in BMC pregnancy and childbirth, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Article
- Review
- Diagnostic evaluation and clinical utility of C-MoKa for prenatal genetic testing.Journal of translational medicine · 2026Article
- Advancing Prenatal Diagnosis: From Conventional Karyotyping to Genome-Wide CNV Analysis.Life (Basel, Switzerland) · 2026Review
- Exome Sequencing Resolving a Complex Pediatric Neurodevelopmental Disorder After Inconclusive Prenatal Testing: A Case Report.Children (Basel, Switzerland) · 2026Article
- Prenatal Identification of a NovelClinical case reports · 2026Article
- The Application Value of Chromosome Microarray Analysis in Prenatal Diagnosis of Clinically Relevant Copy Number Variations in Fetuses.International journal of women's health · 2026Article
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Abstract
backgroundFetal structural anomalies detected by prenatal ultrasound were reported in 3-5% of pregnancies, and they range from a single, minor anomaly to multiple systemic anomalies. Tests designed to identify the genetic factors (chromosomal or monogenic) responsible for the vast majority of fetal structural anomalies play a crucial role in prenatal diagnosis. A retrospective analysis was performed to assess the diagnostic yield and clinical efficiency of prenatal chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) in diagnosis of fetuses with structural anomalies, and to explore genotype-phenotype correlations.
methodsWe retrospectively analyzed 391 fetuses referred for genetic testing due to sonographically detected structural anomalies. CMA was performed in 310 cases, and WES was conducted in 81 cases with prior negative CMA results. Detected copy number variants (CNVs) and sequence variants were classified according to ACMG guidelines. Cases were stratified into nine phenotypic categories based on ultrasonographic findings.
resultsCMA identified pathogenic CNVs in 13/310 cases (4.2%) and variants of uncertain significance (VUS) in 13/310 (4.2%). WES revealed pathogenic or likely pathogenic variants in 18/81 cases (22.2%) and VUS in 9/81 cases (11.1%). The highest diagnostic yield for CMA was observed in fetuses with cardiovascular anomalies (12%), and for WES in those with central nervous system anomalies (46.1%) and skeletal system anomalies (38.8%). Notably, eight novel likely pathogenic variants were identified. Incidental findings were detected in 2 WES cases.
conclusionsCMA and WES provide complementary value in the genetic evaluation of fetal structural anomalies. While CMA remains a robust first-tier test, WES significantly enhances diagnostic yield, especially in cases with negative CMA and specific phenotypic features. Accurate ultrasonographic phenotyping and appropriate test selection are crucial for maximizing diagnostic outcomes in prenatal settings.
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