SONOGRAPHIC AND MATERNAL SERUM SCREENING ABNORMALITIES IN FETUSES AFFECTED BY SPINAL MUSCULAR-ATROPHY

Fetuses with degenerative neurological disorders or metabolic diseases rarely exhibit sonographic abnormalities. As a result, prenatal diagn osis, when available, requires invasive testing. Prenatal diagnosis of spinal muscular atrophy (SMA) can be made by testing chorionic villi or amniocytes. Indirect genotype analysis by use of single- and multi- locus polymorphic microsatellites of the region 5q11.3-q13.3 is used. We present two cases of SMA that manifested at 11 and 16 weeks' gestat ion by the presence of abnormal ultrasound findings. Each case also ha d abnormal maternal serum screening. (C) 1997 by John Wiley & Sons, Lt d.