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Updated: Feb 14, 2026

Gene Editing of Primary Rhesus Macaque B Cells
Published on: February 10, 2023
Cell-Free DNA: Screening for Single-Gene Disorders and Determination of Fetal Rhesus D Genotype
Kristin D Gerson1, Barbara M O'Brien1
1Department of Obstetrics, Gynecology, and Reproductive Biology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA.
Abstract:
The use of cell-free DNA (cfDNA) for screening and diagnosis of single-gene disorders is an evolving technology, and its application at this time is limited. Invasive testing is currently recommended for the diagnosis of single-gene disorders. The limitations of cfDNA technology are most notable in clinical settings involving X-linked and autosomal recessive conditions, in part because maternal mutant alleles greatly outnumber those of fetal origin. Examples of single-gene disorders for which cfDNA has been used include skeletal dyplasias, cystic fibrosis, congenital adrenal hyperplasia, β-thalassemia, and muscular dystrophies.
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