Diagnostic yield of genome sequencing for fetal structural anomalies.
Sign Up to like & getrecommendations! 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
Association of maternal food insecurity before and during pregnancy with fetal structural anomalies: A multicenter case-control study protocol
Sign Up to like & getrecommendations! 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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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
Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing
Sign Up to like & getrecommendations! 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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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