Prenatal diagnosis of Werdnig-Hoffmann disease in China.

Abstract

OBJECTIVE:

To establish a means for prenatal prediction of spinal muscular atrophy (SMA) through survival motor neuron (SMN) gene deletion analysis and genetic counseling in families with a child affected with SMA.

METHODS:

Genetic analysis for prenatal prediction of Werdnig-Hoffmann disease was performed in a at risk Chinese family by polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) in SMN gene exons 7 and 8.

RESULTS:

The pregnancy was positive for the homozygous deletion of the SMN gene, thus the fetus was diagnosed as being affected and the pregnancy was terminated.

CONCLUSION:

This approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease.

• Authors: Jianhua Feng, Yamamoto Toshiyuki
• Journal: Chinese medical journal (Chin Med J (Engl)) Vol. 116 Issue 5 Pg. 673-5 (May 2003) ISSN: 0366-6999 [Print] China
• PMID: 12875676 (Publication Type: Case Reports, Journal Article)

Topics

• China
• Female
• Fetal Diseases (diagnosis)
• Gene Deletion
• Genetic Counseling
• Humans
• Pregnancy
• Prenatal Diagnosis
• Spinal Muscular Atrophies of Childhood (diagnosis, genetics)