Neda Zadeh1, Louanne Hudgins, Mary E Norton. 1. Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, CA, USA. nzadeh@geneticscenter.com
Abstract
OBJECTIVE: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder with a high carrier frequency in the general population. The severity of this disorder indicates the importance of early prenatal detection. In medical literature, there are a few published case reports of enlarged nuchal translucency (NT) measurement in association with a diagnosis of SMA in the fetus. Our goal is to determine whether SMA in infants is associated with a history of an increased NT measurement during pregnancy. METHODS: Using contact information obtained through SMA family support groups, women who had recently given birth to infants affected with SMA were identified and queried about NT ultrasound results during the pregnancy. NT values were confirmed via ultrasound report to determine whether SMA was associated with a history of an enlarged NT measurement. RESULTS: Twelve SMA affected infants with confirmed NT results during the pregnancy were identified. All fetuses had normal NT values ranging from 0.7 to 2.4 mm. CONCLUSION: In this series, SMA did not appear to be associated with an enlarged NT.
OBJECTIVE:Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder with a high carrier frequency in the general population. The severity of this disorder indicates the importance of early prenatal detection. In medical literature, there are a few published case reports of enlarged nuchal translucency (NT) measurement in association with a diagnosis of SMA in the fetus. Our goal is to determine whether SMA in infants is associated with a history of an increased NT measurement during pregnancy. METHODS: Using contact information obtained through SMA family support groups, women who had recently given birth to infants affected with SMA were identified and queried about NT ultrasound results during the pregnancy. NT values were confirmed via ultrasound report to determine whether SMA was associated with a history of an enlarged NT measurement. RESULTS: Twelve SMA affected infants with confirmed NT results during the pregnancy were identified. All fetuses had normal NT values ranging from 0.7 to 2.4 mm. CONCLUSION: In this series, SMA did not appear to be associated with an enlarged NT.