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Prenatal diagnosis of Duchenne muscular dystrophy using a single fetal nucleated erythrocyte in maternal blood

Department of Obstetrics and Gynecology, National Center of Neurology and Psychiatry, Kohnodai Hospital, Japan (Dr. Sekizawan) (Dr. Kimura)
Department of Neurology, National Center of Neurology and Psychiatry, Kohnodai Hospital, Japan (Dr. Sasaki) (Dr. Sato)
Central Laboratory of Pathology, School of Medicine, Juntendo University, Japan (Dr. Nakamura)
Department of Forensic Medicine, School of Medicine, Juntendo University, Japan. (Dr. Kobayashi)

Address correspondence and reprint requests to Dr. Akihiko Sekizawa, National Center of Neurology and Psychiatry, Kohnodai Hospital, 1-7-1, Kohnodai, Ichikawa-city, Chiba 272, Japan.

We developed a method that allows prenatal diagnosis of Duchenne muscular dystrophy using a single nucleated erythrocyte (NRBC) isolated from maternal blood. Maternal blood was obtained at 8 to 20 weeks of gestation. NRBCs were separated with Percoll using a discontinuous density gradient method and then collected by micromanipulator under microscopic observation. The entire genome of a single cell was amplified by primer extension preamplification (PEP). Sex was determined from a small aliquot of the PEP reaction. After an NRBC was determined to be male and confirmed to be of fetal origin, dystrophin exons 4, 8, 12, 45, 48, 50, and 51 were determined from the same PEP reaction. This diagnostic method using maternal blood is safer than amniocentesis or cordocentesis and can be applied to other X-linked diseases.

Supported by Research Grant (5A-2) for Nervous and Mental Disorders from the Ministry of Health and Welfare of Japan.

Received April 26, 1995. Accepted in final form July 18, 1995.

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