Prenatal prediction of spinal muscular atrophy in Chinese

Lin Shuan-Pei, Jan Gowth Chang, Yuh Jyh Jong, Tzu Yao Yang, Chang Hai Tsai, Nancy M. Wang, Hung Li, Hsieh Mei Hsieh-Li, Cheur Jong Hu

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Abstract

We used linkage analysis, non-isotope SSCP (single-strand conformation polymorphism) and PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) for prenatal diagnosis of spinal muscular atrophy (SMA). A total of 26 cases from 20 SMA families (16, type 1 and 4) were evaluated. 5 out of 26 fetuses were affected and, following genetic counselling, the parents decided to terminate the pregnancies. Aborted fetal tissues were examined and the diagnosis was confirmed in each case. The 21 unaffected cases were either normals (12 cases) or carriers (9 cases). These children have been followed for six months to two and a half years. No false-negative or false-positive results on prenatal testing were found. We conclude that prenatal diagnosis of SMA is reliable and accurate.

Original languageEnglish
Pages (from-to)657-661
Number of pages5
JournalPrenatal Diagnosis
Volume19
Issue number7
DOIs
Publication statusPublished - 1999 Jan 1

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All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynaecology
  • Genetics(clinical)

Cite this

Shuan-Pei, L., Chang, J. G., Jong, Y. J., Yang, T. Y., Tsai, C. H., Wang, N. M., Li, H., Hsieh-Li, H. M., & Hu, C. J. (1999). Prenatal prediction of spinal muscular atrophy in Chinese. Prenatal Diagnosis, 19(7), 657-661. https://doi.org/10.1002/(SICI)1097-0223(199907)19:7<657::AID-PD602>3.0.CO;2-P