title: Sonographic and maternal serum screening abnormalities in fetuses affected by spinal muscular atrophy.
abstract: 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.
authors.affiliation: Department of Obstetrics and Gynecology, University of Iowa College of Medicine, Iowa City 52242-1080, USA.
authors.forename: A
authors.initials: A
authors.lastname: Rijhsinghani
authors.forename: J
authors.initials: J
authors.lastname: Yankowitz
authors.forename: D
authors.initials: D
authors.lastname: Howser
authors.forename: R
authors.initials: R
authors.lastname: Williamson
mesh_terms: D006063:Chorionic Gonadotropin / Q000097:blood*; D015193:Chorionic Villi Sampling; D004247:DNA / Q000032:analysis; D004964:Estriol / Q000097:blood*; D005260:Female; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000097:blood* / Q000000981:diagnostic imaging* / Q000235:genetics; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D016216:Ultrasonography, Prenatal; D000509:alpha-Fetoproteins / Q000032:analysis*
chemical_list: D006063:Chorionic Gonadotropin; D000509:alpha-Fetoproteins; D004247:DNA; D004964:Estriol