INTRODUCTION: prenatal diagnosis in families at risk for spinal muscular atrophy (SMA) mainly of type 1 is often applied due to the high incidence, most severe and newborn outcome of the disease. CASE: we present our clinical experience for 36 families with history of having at least one child with homozygous deletions of the SMN1 gene between. Seventeen families requested for prenatal prediction and of these cases, 8 fetuses were diagnosed to be at risk of developing the disease and the parents decided to terminate the pregnancy. Nine fetuses were detected with no homozygous deletion of the SMN1 and reached to full term delivery. Follow-up of live born children and abortion products never led to false or negative result. CONCLUSION: therefore, application of SMN1 deletion detection by simple PCR assay in families with homozygous deletion of the SMN1 gene could be suggested for prenatal prediction in such families.
INTRODUCTION: prenatal diagnosis in families at risk for spinal muscular atrophy (SMA) mainly of type 1 is often applied due to the high incidence, most severe and newborn outcome of the disease. CASE: we present our clinical experience for 36 families with history of having at least one child with homozygous deletions of the SMN1 gene between. Seventeen families requested for prenatal prediction and of these cases, 8 fetuses were diagnosed to be at risk of developing the disease and the parents decided to terminate the pregnancy. Nine fetuses were detected with no homozygous deletion of the SMN1 and reached to full term delivery. Follow-up of live born children and abortion products never led to false or negative result. CONCLUSION: therefore, application of SMN1 deletion detection by simple PCR assay in families with homozygous deletion of the SMN1 gene could be suggested for prenatal prediction in such families.
Authors: Susan Zeesman; Donald T Whelan; Nancy Carson; Jean McGowan-Jordan; Tracy L Stockley; Peter N Ray; Thomas W Prior Journal: Am J Med Genet Date: 2002-01-22
Authors: V Dhamcharee; A Mutirangura; Y Tannirandom; S Jongpiputvanich; O Romyanan Journal: Southeast Asian J Trop Med Public Health Date: 1999 Impact factor: 0.267
Authors: G van der Steege; P M Grootscholten; P van der Vlies; T G Draaijers; J Osinga; J M Cobben; H Scheffer; C H Buys Journal: Lancet Date: 1995-04-15 Impact factor: 79.321
Authors: Svetlana A Kocheva; Dijana Plaseska-Karanfilska; Svetlana Trivodalieva; Marija Kuturec; Snezana Vlaski-Jekic; Georgi Dimitar Efremov Journal: Genet Test Date: 2008-09
Authors: Shunmoogum A Patten; Gary A B Armstrong; Alexandra Lissouba; Edor Kabashi; J Alex Parker; Pierre Drapeau Journal: Dis Model Mech Date: 2014-07 Impact factor: 5.758