PRENATAL-DIAGNOSIS OF SJOGREN-LARSSON SYNDROME USING ENZYMATIC METHODS

Sjogren-Larsson syndrome (SLS) is an autosomal recessive disorder char acterized by the presence of congenita ichthyosis, mental retardation, and spasticity. The primary biochemical defect in SLS has recently be en identified to be a deficiency of fatty aldehyde dehydrogenase (FALD H), which is a component of fatty alcohol:NAD+ oxidoreductase (FAO). W e monitored four pregnancies at risk for SLS by measuring FAO and FALD H in cultured amniocytes or cultured chorionic villus cells. The enzym atic results in one case using amniocytes obtained during the second t rimester predicted an affected SLS fetus, which was confirmed at termi nation of the pregnancy. Another at-risk fetus was predicted to be aff ected with SLS using cultured chorionic villus cells obtained in the f irst trimester, and fetal skin fibroblasts confirmed a profound defici ency of FAO and FALDH. Two other fetuses were correctly predicted to b e unaffected. These results demonstrate that SLS can be diagnosed pren atally using enzymatic methods.