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.
Authors
- Sona Saha
- Rhona Schreck
- John G Williams (ORCID: https://orcid.org/0000-0002-7015-9055)
- Bertram Hutchinson
Institutions
- Baylor College of Medicine (US)
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
- 0.00