ReviewDiagnostics (Basel, Switzerland)2022
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis.
Review in Diagnostics (Basel, Switzerland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta-Analysis.Prenatal diagnosis · 2026Pooled it
- Clinical utility of chromosomal microarray analysis in prenatal diagnosis of fetuses with ultrasound soft markers: A retrospective single-center comparative study with karyotyping.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2026Article
- Review
- Diagnostic yield of chromosomal microarray analysis and exome sequencing in fetuses with central nervous system anomalies, with long-term follow-up: a single-center study over a 17-year period.Archives of gynecology and obstetrics · 2026Article
- Identification of novel biallelic mutations in CFAP53 associated with fetal situs inversus totalis and literature review.Journal of applied genetics · 2026Review
- Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counseling.Journal of genetic counseling · 2026Article
- Prenatal Use of Exome Sequencing and Chromosomal Microarray Analysis: Indications, Interpretation, and Gene Selection Strategies.Diagnostics (Basel, Switzerland) · 2026Review
- Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.Frontiers in genetics · 2026Article
- Prenatal diagnosis of fetuses with ultrasound soft markers.BMC pregnancy and childbirth · 2025Article
- Prenatal Variants of Uncertain Significance (VUS): to report or not to report?European journal of human genetics : EJHG · 2025Article
- First Trimester Ultrasound Soft Markers in a Fetus: Genetic Associations and Diagnostic Implications.Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2025Review
- Article
- Deep genome sequencing reveals extensive genetic heterogeneity in early human placentas.Nature communications · 2025Article
- Global, regional, and national burden of congenital musculoskeletal and limb anomalies, 1990-2021: a systematic analysis of the global burden of disease in 2021.Tropical medicine and health · 2025Article
- Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies.Human genomics · 2025Article
- Fetal Hydrops: Genetic Dissection of an Unspecific Sonographic Finding-A Comprehensive Review.Diagnostics (Basel, Switzerland) · 2025Review
- Application of Whole-Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities.Molecular genetics & genomic medicine · 2024Article
- Chromosomal abnormalities detected by chromosomal microarray analysis and pregnancy outcomes of 4211 fetuses with high-risk prenatal indications.Scientific reports · 2024Article
- Diagnostic and prognostic role of soft ultrasound markers in prenatal detection and assessment of foetal abnormalities.Przeglad menopauzalny = Menopause review · 2024Review
- Chromosomal Abnormalities Detected by Chromosomal Microarray Analysis and Karyotype in Fetuses with Ultrasound Abnormalities.International journal of general medicine · 2024Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fetal malformations occur in 2-3% of pregnancies. They require invasive procedures for cytogenetics and molecular testing. "Structural anomalies" include non-transient anatomic alterations. "Soft markers" are often transient minor ultrasound findings. Anomalies not fitting these definitions are categorized as "dynamic". This meta-analysis aims to evaluate the diagnostic yield and the rates of variants of uncertain significance (VUSs) in fetuses undergoing molecular testing (chromosomal microarray (CMA), exome sequencing (ES), genome sequencing (WGS)) due to ultrasound findings. The CMA diagnostic yield was 2.15% in single soft markers (vs. 0.79% baseline risk), 3.44% in multiple soft markers, 3.66% in single structural anomalies and 8.57% in multiple structural anomalies. Rates for specific subcategories vary significantly. ES showed a diagnostic rate of 19.47%, reaching 27.47% in multiple structural anomalies. WGS data did not allow meta-analysis. In fetal structural anomalies, CMA is a first-tier test, but should be integrated with karyotype and parental segregations. In this class of fetuses, ES presents a very high incremental yield, with a significant VUSs burden, so we encourage its use in selected cases. Soft markers present heterogeneous CMA results from each other, some of them with risks comparable to structural anomalies, and would benefit from molecular analysis. The diagnostic rate of multiple soft markers poses a solid indication to CMA.
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