title: Prenatal diagnosis of spinal muscular atrophy in Russia.
abstract: Ninety-two families with spinal muscular atrophy (SMA) applied for genetic counselling and further prenatal diagnosis. To minimize expenses, only one tightly linked informative marker was determined in the course of preliminary examination, and non-radioactive allele detection was preferably used. Four prenatal diagnoses of SMA type I, four of SMA type II, and one of SMA type III were made. This trial programme shows the considerable requirements, importance, and potential effectiveness of prenatal prediction of SMA in Russia.
authors.affiliation: Research Centre of Medical Genetics, Moscow, Russia.
authors.forename: I
authors.initials: I
authors.lastname: Shagina
authors.forename: H L
authors.initials: HL
authors.lastname: Dadali
authors.forename: V P
authors.initials: VP
authors.lastname: Sitnikov
authors.forename: V V
authors.initials: VV
authors.lastname: Pugachev
authors.forename: N A
authors.initials: NA
authors.lastname: Malygina
authors.forename: O V
authors.initials: OV
authors.lastname: Evgrafov
mesh_terms: D000293:Adolescent; D000649:Amniocentesis; D001483:Base Sequence; D002648:Child; D004247:DNA / Q000032:analysis / Q000737:chemistry; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012307:Risk Factors; D012426:Russia
chemical_list: D004247:DNA