P809: Prenatal chromosomal microarray classification and reporting among screen positive cases in California

In pregnancies with ultrasound anomalies, chromosomal microarray analysis (CMA) can identify key genetic anomalies as well as rarer microdeletions and microduplications not detectable by karyotype. In approximately 6-10% of pregnancies with a fetal structural anomaly, CMA reveals copy number variants (CNVs) that may be clinically relevant yet challenging to classify and interpret. A lack of standardization exists in classification, interpretation and reporting of genetic variants found on prenatal CMA.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.103178
Primary Topic
Prenatal Screening and Diagnostics
Type
article
Field-Weighted Citation Impact
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article

P809: Prenatal chromosomal microarray classification and reporting among screen positive cases in California

Sona Saha, Rhona Schreck, John G Williams, Bertram Hutchinson
Genetics in Medicine Open
Prenatal Screening and Diagnostics
article

P809: Prenatal chromosomal microarray classification and reporting among screen positive cases in California

Sona Saha, Rhona Schreck, John G Williams, Bertram Hutchinson
article en

Abstract

In pregnancies with ultrasound anomalies, chromosomal microarray analysis (CMA) can identify key genetic anomalies as well as rarer microdeletions and microduplications not detectable by karyotype. In approximately 6-10% of pregnancies with a fetal structural anomaly, CMA reveals copy number variants (CNVs) that may be clinically relevant yet challenging to classify and interpret. A lack of standardization exists in classification, interpretation and reporting of genetic variants found on prenatal CMA.

Genetics in Medicine OpenVol. 3
Baylor College of Medicine (US)
Zero hunger
Openalex Percentile: Top 93%
Prenatal Screening and Diagnostics
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