Diagnostyka prenatalna w rdzeniowym zaniku mieśni. Wskazania, ograniczenia, interpretacja wuników.

Translated title of the contribution: Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results

Maria Jedrzejowska, Janusz Zimowski, Wojciech Wiszniewski, Danuta Sielska, Jerzy Bal, Tadeusz Mazurczak, Irena Hausmanowa-Petrusewicz, Jacek Zaremba

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

INTRODUCTION: Proximal spinal muscular atrophy of childhood and adolescence (SMA) is a genetic autosomal recessive disease. Caused in 96.5% by deletion in the SMN1 gene. Owing to the homogeneity of the molecular defect. Secondary prophylaxis can readily be offered to families at risk of SMA. PATIENTS: Prenatal diagnosis of SMA was carried out in a group of 50 families. Which were divided into two subgroups: with high and relatively low genetic risk of SMA. In all, 55 prenatal tests were performed in the period 1998-2003. RESULTS: In the first group including 45 families at high genetic risk, 9 of the 50 tests were positive (18%). The diagnosis of SMA was tentative in 7 cases from this group and it was based only on the clinical picture (the affected children are not alive, therefore DNA samples are not available). Prenatal examination in 1 of these 7 families showed the SMA genotype. In the second subgroup including 5 families with relatively low genetic risk of SMA in none of the studies was there a biallelic deletion of exon 7 in the SMNI gene. Mainly parents of children with a severe form of SMA and having no healthy offspring asked for prenatal examination (73% of the families). CONCLUSIONS: Prenatal diagnosis could be offered to families even if the diagnosis of SMA was not genetically verified. The negative result should he then interpreted individually. Until the carrier test will not he introduced to routine procedures. prenatal diagnosis can be also offered to families at relatively low risk of SMA.

Original languagePolish
Pages (from-to)651-661
Number of pages11
JournalMedycyna wieku rozwojowego
Volume8
Issue number3 Pt 2
StatePublished - 2004
Externally publishedYes

Fingerprint

Spinal Muscular Atrophy
Prenatal Diagnosis
Spinal Muscular Atrophies of Childhood
Genes
Exons
Parents
Genotype

Cite this

Jedrzejowska, M., Zimowski, J., Wiszniewski, W., Sielska, D., Bal, J., Mazurczak, T., ... Zaremba, J. (2004). Diagnostyka prenatalna w rdzeniowym zaniku mieśni. Wskazania, ograniczenia, interpretacja wuników. Medycyna wieku rozwojowego, 8(3 Pt 2), 651-661.

Diagnostyka prenatalna w rdzeniowym zaniku mieśni. Wskazania, ograniczenia, interpretacja wuników. / Jedrzejowska, Maria; Zimowski, Janusz; Wiszniewski, Wojciech; Sielska, Danuta; Bal, Jerzy; Mazurczak, Tadeusz; Hausmanowa-Petrusewicz, Irena; Zaremba, Jacek.

In: Medycyna wieku rozwojowego, Vol. 8, No. 3 Pt 2, 2004, p. 651-661.

Research output: Contribution to journalArticle

Jedrzejowska, M, Zimowski, J, Wiszniewski, W, Sielska, D, Bal, J, Mazurczak, T, Hausmanowa-Petrusewicz, I & Zaremba, J 2004, 'Diagnostyka prenatalna w rdzeniowym zaniku mieśni. Wskazania, ograniczenia, interpretacja wuników.', Medycyna wieku rozwojowego, vol. 8, no. 3 Pt 2, pp. 651-661.
Jedrzejowska, Maria ; Zimowski, Janusz ; Wiszniewski, Wojciech ; Sielska, Danuta ; Bal, Jerzy ; Mazurczak, Tadeusz ; Hausmanowa-Petrusewicz, Irena ; Zaremba, Jacek. / Diagnostyka prenatalna w rdzeniowym zaniku mieśni. Wskazania, ograniczenia, interpretacja wuników. In: Medycyna wieku rozwojowego. 2004 ; Vol. 8, No. 3 Pt 2. pp. 651-661.
@article{5eed27cb217d45ada962750b897ac7c4,
title = "Diagnostyka prenatalna w rdzeniowym zaniku mieśni. Wskazania, ograniczenia, interpretacja wunik{\'o}w.",
abstract = "INTRODUCTION: Proximal spinal muscular atrophy of childhood and adolescence (SMA) is a genetic autosomal recessive disease. Caused in 96.5{\%} by deletion in the SMN1 gene. Owing to the homogeneity of the molecular defect. Secondary prophylaxis can readily be offered to families at risk of SMA. PATIENTS: Prenatal diagnosis of SMA was carried out in a group of 50 families. Which were divided into two subgroups: with high and relatively low genetic risk of SMA. In all, 55 prenatal tests were performed in the period 1998-2003. RESULTS: In the first group including 45 families at high genetic risk, 9 of the 50 tests were positive (18{\%}). The diagnosis of SMA was tentative in 7 cases from this group and it was based only on the clinical picture (the affected children are not alive, therefore DNA samples are not available). Prenatal examination in 1 of these 7 families showed the SMA genotype. In the second subgroup including 5 families with relatively low genetic risk of SMA in none of the studies was there a biallelic deletion of exon 7 in the SMNI gene. Mainly parents of children with a severe form of SMA and having no healthy offspring asked for prenatal examination (73{\%} of the families). CONCLUSIONS: Prenatal diagnosis could be offered to families even if the diagnosis of SMA was not genetically verified. The negative result should he then interpreted individually. Until the carrier test will not he introduced to routine procedures. prenatal diagnosis can be also offered to families at relatively low risk of SMA.",
author = "Maria Jedrzejowska and Janusz Zimowski and Wojciech Wiszniewski and Danuta Sielska and Jerzy Bal and Tadeusz Mazurczak and Irena Hausmanowa-Petrusewicz and Jacek Zaremba",
year = "2004",
language = "Polish",
volume = "8",
pages = "651--661",
journal = "Medycyna wieku rozwojowego",
issn = "1428-345X",
publisher = "Instytut Matki i Dziecka",
number = "3 Pt 2",

}

TY - JOUR

T1 - Diagnostyka prenatalna w rdzeniowym zaniku mieśni. Wskazania, ograniczenia, interpretacja wuników.

AU - Jedrzejowska, Maria

AU - Zimowski, Janusz

AU - Wiszniewski, Wojciech

AU - Sielska, Danuta

AU - Bal, Jerzy

AU - Mazurczak, Tadeusz

AU - Hausmanowa-Petrusewicz, Irena

AU - Zaremba, Jacek

PY - 2004

Y1 - 2004

N2 - INTRODUCTION: Proximal spinal muscular atrophy of childhood and adolescence (SMA) is a genetic autosomal recessive disease. Caused in 96.5% by deletion in the SMN1 gene. Owing to the homogeneity of the molecular defect. Secondary prophylaxis can readily be offered to families at risk of SMA. PATIENTS: Prenatal diagnosis of SMA was carried out in a group of 50 families. Which were divided into two subgroups: with high and relatively low genetic risk of SMA. In all, 55 prenatal tests were performed in the period 1998-2003. RESULTS: In the first group including 45 families at high genetic risk, 9 of the 50 tests were positive (18%). The diagnosis of SMA was tentative in 7 cases from this group and it was based only on the clinical picture (the affected children are not alive, therefore DNA samples are not available). Prenatal examination in 1 of these 7 families showed the SMA genotype. In the second subgroup including 5 families with relatively low genetic risk of SMA in none of the studies was there a biallelic deletion of exon 7 in the SMNI gene. Mainly parents of children with a severe form of SMA and having no healthy offspring asked for prenatal examination (73% of the families). CONCLUSIONS: Prenatal diagnosis could be offered to families even if the diagnosis of SMA was not genetically verified. The negative result should he then interpreted individually. Until the carrier test will not he introduced to routine procedures. prenatal diagnosis can be also offered to families at relatively low risk of SMA.

AB - INTRODUCTION: Proximal spinal muscular atrophy of childhood and adolescence (SMA) is a genetic autosomal recessive disease. Caused in 96.5% by deletion in the SMN1 gene. Owing to the homogeneity of the molecular defect. Secondary prophylaxis can readily be offered to families at risk of SMA. PATIENTS: Prenatal diagnosis of SMA was carried out in a group of 50 families. Which were divided into two subgroups: with high and relatively low genetic risk of SMA. In all, 55 prenatal tests were performed in the period 1998-2003. RESULTS: In the first group including 45 families at high genetic risk, 9 of the 50 tests were positive (18%). The diagnosis of SMA was tentative in 7 cases from this group and it was based only on the clinical picture (the affected children are not alive, therefore DNA samples are not available). Prenatal examination in 1 of these 7 families showed the SMA genotype. In the second subgroup including 5 families with relatively low genetic risk of SMA in none of the studies was there a biallelic deletion of exon 7 in the SMNI gene. Mainly parents of children with a severe form of SMA and having no healthy offspring asked for prenatal examination (73% of the families). CONCLUSIONS: Prenatal diagnosis could be offered to families even if the diagnosis of SMA was not genetically verified. The negative result should he then interpreted individually. Until the carrier test will not he introduced to routine procedures. prenatal diagnosis can be also offered to families at relatively low risk of SMA.

UR - http://www.scopus.com/inward/record.url?scp=33846408736&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33846408736&partnerID=8YFLogxK

M3 - Article

C2 - 15858238

AN - SCOPUS:33846408736

VL - 8

SP - 651

EP - 661

JO - Medycyna wieku rozwojowego

JF - Medycyna wieku rozwojowego

SN - 1428-345X

IS - 3 Pt 2

ER -