Prenatal prediction of spinal muscular atrophy in Chinese

We used linkage analysis, non-isotope SSCP (single-strand conformation poly morphism) and PCR-RFLP (polymerase chain reaction-restriction fragment leng th 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 p arents decided to terminate the pregnancies. Aborted fetal tissues were exa mined 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 pre natal diagnosis of SMA is reliable and accurate. Copyright (C) 1999 John Wi ley & Sons, Ltd.