Early Validation Studies for Single Fetal Cell Genetic Testing as a Novel Form of Prenatal Diagnosis

April 30, 2019 (Noon–1 p.m. ET)

Sponsor/Co-Sponsor(s)

Pregnancy and Perinatology Branch (PPB), NICHD

Location

6710B Rockledge Drive, Room 1417, Bethesda, Maryland

Purpose

As part of the ongoing PPB Speaker Series, Dr. Arthur Beaudet  will discuss the protocol for single fetal cell (SFC) testing he and his team have implemented. This protocol uses magnetic-activated cell sorting to enrich for fetal trophoblasts, single cell picking, whole genome amplification, genotyping, and low-coverage whole genome sequencing for copy number variant analysis.

Genetic analysis of fetal cells from maternal circulation might provide a breakthrough in prenatal diagnosis. SFC testing has the potential to provide high positive and negative predictive values. It also has the potential to detect all genetic abnormalities detectable by amniocentesis or chorionic villus sampling. Dr. Beaudet and his team of researchers have completed two pilot validation studies demonstrating the feasibility of using SFC testing as a novel form of prenatal diagnosis.

Contact

Dr. Maurice Davis, PPB, NICHD
Phone: 301–435–6887
Email: maurice.davis@nih.gov

Reon Holloway, Intellectual and Developmental Disabilities Branch, NICHD
Phone: 301–435–3777
Email: reon.holloway@nih.gov

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