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   Articles with "structural anomalies" as a keyword



Diagnostic yield of genome sequencing for fetal structural anomalies.

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recommendations! Published in 2022 at "Prenatal diagnosis"

DOI: 10.1002/pd.6108

Abstract: OBJECTIVE Genome sequencing (GS >30x) is beginning to be adopted as a comprehensive genome-wide test for the diagnosis of rare disease in the post-natal setting. Recent studies demonstrated the utility of exome sequencing (ES) in… read more here.

Keywords: diagnosis; genome sequencing; diagnostic yield; structural anomalies ... See more keywords

Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies

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recommendations! Published in 2025 at "Prenatal Diagnosis"

DOI: 10.1002/pd.6735

Abstract: To investigate the exome sequencing (ES) detection rate among fetuses with congenital anomalies and describe the rates in the setting of multiple versus isolated anomalies, perinatal autopsy, and family history of a previously affected child. read more here.

Keywords: whole exome; sequencing population; structural anomalies; population fetuses ... See more keywords

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications.

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recommendations! Published in 2025 at "Prenatal diagnosis"

DOI: 10.1002/pd.70006

Abstract: OBJECTIVE To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES-CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA)… read more here.

Keywords: analysis; structural anomalies; cnv snv; cnv ... See more keywords

Reconciling Attribute and Structural Anomalies for Improved Graph Anomaly Detection

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recommendations! Published in 2025 at "IEEE Transactions on Neural Networks and Learning Systems"

DOI: 10.1109/tnnls.2025.3561172

Abstract: Graph anomaly detection is critical in domains such as healthcare and economics, where identifying deviations can prevent substantial losses. Existing unsupervised approaches strive to learn a single model capable of detecting both attribute and structural… read more here.

Keywords: structural anomalies; graph anomaly; anomaly detection; reconciling attribute ... See more keywords
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Association of maternal food insecurity before and during pregnancy with fetal structural anomalies: A multicenter case-control study protocol

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recommendations! Published in 2020 at "Nutrition and Health"

DOI: 10.1177/0260106020971858

Abstract: Background: Food insecurity, an issue also affecting developed countries, is associated with different negative outcomes. Particularly in pregnant women, a vulnerable population group, it has a double burden, as it affects both the woman and… read more here.

Keywords: structural anomalies; fetal structural; pregnant women; food insecurity ... See more keywords

Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

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recommendations! Published in 2022 at "Diagnostics"

DOI: 10.3390/diagnostics12030575

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… read more here.

Keywords: structural anomalies; meta analysis; fetal malformations; soft markers ... See more keywords
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Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing

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recommendations! Published in 2021 at "Genes"

DOI: 10.3390/genes12030376

Abstract: Whole genome sequencing (WGS) is a powerful tool for postnatal genetic diagnosis, but relevant clinical studies in the field of prenatal diagnosis are limited. The present study aimed to prospectively evaluate the utility of WGS… read more here.

Keywords: whole genome; structural anomalies; chromosomal microarray; fetal structural ... See more keywords

Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies

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recommendations! Published in 2022 at "Genes"

DOI: 10.3390/genes13112088

Abstract: With the advancements in prenatal diagnostics, genome sequencing is now incorporated into clinical use to maximize the diagnostic yield following uninformative conventional tests (karyotype and chromosomal microarray analysis). Hong Kong started publicly funded prenatal genomic… read more here.

Keywords: genome sequencing; fetal structural; funded genome; implementation public ... See more keywords