Prenatal diagnosis of spinal muscular atrophy: Indian scenario

2005 ◽  
Vol 25 (8) ◽  
pp. 641-644 ◽  
Author(s):  
Akanchha Kesari ◽  
Hanna Rennert ◽  
Debra G. B. Leonard ◽  
Shubha R. Phadke ◽  
Balraj Mittal
Keyword(s):  
Prenatal Diagnosis ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Indian Scenario

First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers

1994 ◽  
Vol 14 (6) ◽  
pp. 459-462 ◽  
Author(s):  
S. Lo Cicero ◽  
F. Capon ◽  
S. Melchionda ◽  
M. Gennarelli ◽  
G. Novelli ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Spinal Muscular Atrophy ◽  
Microsatellite Markers ◽  
Muscular Atrophy ◽  
First Trimester

scholarly journals Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China

2020 ◽  
Author(s):  
Yingjie Sun ◽  
Xiangdong Kong ◽  
Zhenhua Zhao ◽  
Xuechao Zhao
Keyword(s):  
Prenatal Diagnosis ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Point Mutations ◽  
Homozygous Deletion ◽  
Common Mutation ◽  
Type I ◽  
Copy Numbers ◽  
Smn2 Gene ◽  
The Impact

Abstract Background Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. At present, gene therapy medicine for SMA, i.e., Spinraza (Nusinersen), has been approved by the FDA, bringing hope to SMA patients and families. Accurate diagnosis is essential for treatment. Our goal was to detect genetic mutations in SMA patients in China and to show the results of the prenatal diagnosis of SMA.Methods In this study, we examined 419 patients in our hospital from January 2010 to September 2019. Multiplex ligation-dependent probe amplification analysis was used to determine the copy numbers of SMN1 and SMN2. Long-range PCR combined with nested PCR was used to detect point mutations in SMN1. In addition to the above detection methods, we also used QF-PCR in prenatal diagnosis to reduce the impact of maternal contamination. We conducted a total of 339 prenatal diagnoses from January 2010 to September 2019.Results Homozygous deletion of SMN1 exon 7 was detected in 96.40% (404/419) of patients. Homozygous deletion of SMN1 exon 7 alone was detected in 15 patients (3.60%). In total, 10 point mutations were detected in the 15 pedigrees. Most patients with SMA Type I have 1~2 copies of the SMN2 gene. Patients with SMA Type II have 2 or 3 copies of the SMN2 gene. The results of prenatal diagnoses showed that 118 fetuses were normal, 149 fetuses were carriers of heterozygous variants, and the remaining 72 fetuses harbored compound heterozygous variants or homozygous variants. Conclusions Our study found that the most common mutation in SMA was homozygous deletion of SMN1 exon 7 in our study. We suggest that detecting only the deletion of exon 7 of SMN1 can meet most of the screening needs. We also believe that SMN2 copy numbers can help infer the disease classification and provide some reference for future treatment options.

Prenatal diagnosis of spinal amyotrophy

2020 ◽  
Author(s):  
E.À. Vinokurova, E.E. Sergovantceva
Keyword(s):  
Prenatal Diagnosis ◽  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Muscular Atrophy ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Survival Motor Neuron ◽  
Homozygous State ◽  
Dna Diagnosis ◽  
Present Pregnancy

The first regional case of pregnancy management in a patient with a child with spinal muscular atrophy is presented. In the present pregnancy for the purpose of prenatal diagnosis of spinal amyotrophy at 12 weeks transabdominal aspiration of chorion villi was performed, followed by molecular genetic research, which revealed the deletion of exons 7–8 of the SMN 1 gene (survival motor neuron) in the homozygous state. Due to the unfavorable prognosis abortion was performed for medical reasons. Thus, to reduce the risk of having a child with spinal muscular atrophy in families with identified mutations in the SMN 1 gene, prenatal DNA diagnosis of this hereditary pathology is recommended.

Prenatal diagnosis of spinal muscular atrophy by gene deletion analysis

The Lancet ◽  
1995 ◽  
Vol 345 (8956) ◽  
pp. 1049 ◽  
Author(s):  
NandaR. Rodrigues ◽  
Louise Campbell ◽  
Nicholas Owen ◽  
CharlesH. Rodeck ◽  
KayE. Davies
Keyword(s):  
Prenatal Diagnosis ◽  
Spinal Muscular Atrophy ◽  
Gene Deletion ◽  
Muscular Atrophy ◽  
Deletion Analysis

Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy

2004 ◽  
Vol 24 (10) ◽  
pp. 839-841 ◽  
Author(s):  
Federica Sangiuolo ◽  
Antonio Filareto ◽  
Emiliano Giardina ◽  
Anna Maria Nardone ◽  
Gianluigi Pilu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Respiratory Distress ◽  
Spinal Muscular Atrophy ◽  
Twin Pregnancy ◽  
Muscular Atrophy

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells

The Lancet ◽  
2003 ◽  
Vol 361 (9362) ◽  
pp. 1013-1014 ◽  
Author(s):  
C Béroud ◽  
M Karliova ◽  
JP Bonnefont ◽  
A Benachi ◽  
A Munnich ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Analysis ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Fetal Cells
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