Sonographic and maternal serum screening abnormalities in fetuses affected by spinal muscular atrophy
NLM Title Abbreviation
Fetuses with degenerative neurological disorders or metabolic diseases rarely exhibit sonographic abnormalities. As a result, prenatal diagnosis, 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 5q11.2-q13.3 is used. We present two cases of SMA that manifested at 11 and 16 weeks' gestation by the presence of abnormal ultrasound findings. Each case also had abnormal maternal serum screening.
Chorionic Gonadotropin/blood, Chorionic Villi Sampling, DNA/analysis, Estriol/blood, Female, Humans, Muscular Atrophy, Spinal/blood/genetics/ultrasonography, Polymerase Chain Reaction, Pregnancy, Ultrasonography, Prenatal, alpha-Fetoproteins/analysis
Published Article/Book Citation
Prenatal diagnosis, 17:2 (1997) pp.166-169.