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Cell-Free Fetal DNA in Maternal Blood
Evolving Clinical Applications
Joe Leigh Simpson, MD;
Farideh Bischoff, PhD
JAMA. 2004;291:1135-1137.
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In this issue of THE JOURNAL, the findings reported in the study by Dhallan and colleagues1 on enhancing recovery of cell-free DNA in maternal blood have major clinical implications. Developing a reliable, transportable technology for cell-free DNA analysis impacts 2 crucial areas—prenatal genetic diagnosis and cancer detection and surveillance. In prenatal genetic diagnosis, detecting a fetal abnormality without an invasive procedure (or with fewer invasive procedures) is a major advantage. Likewise in cancer surveillance (eg, in patients with leukemia), monitoring treatment without having to perform a bone marrow aspiration for karyotype also would be of great benefit.
Prenatal genetic diagnosis has been available in the United States since 1968, when chromosomal abnormalities and metabolic traits proved detectable by analysis of amniotic fluid cells obtained by amniocentesis. The most common indication for prenatal genetic testing is maternal age older than 35 years; other indications . . . [Full Text of this Article]
Author Affiliations: Departments of Obstetrics and Gynecology (Drs Simpson and Bischoff) and Molecular and Human Genetics (Dr Simpson), Baylor College of Medicine, Houston, Tex.
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