title: Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy.
abstract: We studied spinal muscular atrophy (SMA) during human development to identify possible delays or alterations in fetal movements detectable by ultrasound. We evaluated 29 pregnancies at risk for severe SMA performing 2D-ultrasound around 11-14 weeks, prior to prenatal molecular testing of the SMN1 gene. We charted the occurrence of generalized body movements, isolated movements of arms and legs, head movements, startle and hiccup. Fetuses were diagnosed as healthy (n=12), carriers (n=10) or affected (n=7) according to the SMN1 molecular testing results obtained. SMN2 copies were also tested in the seven affected fetuses, six of whom showed two SMN2 copies and one a unique SMN2 copy. The movements under study were observed in all recordings, regardless of group and the SMN2 copies. At the gestational age examined, we did not observe a qualitative early limitation of movements in fetuses with SMA, even in cases predicted to develop a severe neonatal form.
authors.affiliation: Department of Obstetrics and Gynecology, Hospital Sant Pau, Barcelona, Spain.
authors.forename: Juan
authors.initials: J
authors.lastname: Parra
authors.forename: Rebeca
authors.initials: R
authors.lastname: Martínez-Hernández
authors.forename: Eva
authors.initials: E
authors.lastname: Also-Rallo
authors.forename: Laura
authors.initials: L
authors.lastname: Alias
authors.forename: María Jesús
authors.initials: MJ
authors.lastname: Barceló
authors.forename: María
authors.initials: M
authors.lastname: Amenedo
authors.forename: Carmen
authors.initials: C
authors.lastname: Medina
authors.forename: Raquel
authors.initials: R
authors.lastname: Senosiain
authors.forename: Joaquim
authors.initials: J
authors.lastname: Calaf
authors.forename: Montserrat
authors.initials: M
authors.lastname: Baiget
authors.forename: Sara
authors.initials: S
authors.lastname: Bernal
authors.forename: Eduardo F
authors.initials: EF
authors.lastname: Tizzano
mesh_terms: D005260:Female; D005324:Fetal Movement / Q000502:physiology*; D018628:Gene Dosage / Q000235:genetics; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000000981:diagnostic imaging* / Q000453:epidemiology* / Q000235:genetics; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D012189:Retrospective Studies; D012307:Risk Factors; D012720:Severity of Illness Index; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics; D016216:Ultrasonography, Prenatal
chemical_list: D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein