Prenatal diagnosis of mucopolysaccharidoses type II by two-dimensional electrophoresis and mass spectrometry in amniotic fluid.
J Obstet Gynaecol Res
; 48(3): 682-687, 2022 Mar.
Article
em En
| MEDLINE
| ID: mdl-35026871
ABSTRACT
AIM:
To introduce a quantitative determination of heparan sulfate and dermatan sulfate by mass spectrometry and to compare it with two-dimensional electrophoresis of the glycosaminoglycans in the amniotic fluid for the prenatal diagnosis of mucopolysaccharidoses type II (MPS II).METHODS:
Thirty pregnancies each with single fetus were subjected to amniocentesis at 16 weeks 10 with a previously affected MPS II infant and 20 as controls. Prenatal diagnosis was done by both mass spectrometry two two-dimensional electrophoresis.RESULTS:
Two-dimensional electrophoresis showed four affected with MPS II and six unaffected fetuses. Mass spectrometry verified these results.CONCLUSION:
Two-dimensional electrophoresis of the glycosaminoglycans in amniotic fluid is a good qualitative method and mass spectrometry is a new accurate quantitative method for prenatal diagnosis of MPS II. Quantitative determination of glycosaminoglycans in amniotic fluid by mass spectrometry is both rapid and accurate. Prenatal diagnosis is recommended for at risk pregnancies and mass spectrometry offers speed and quantitation.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Mucopolissacaridoses
Tipo de estudo:
Diagnostic_studies
/
Qualitative_research
Limite:
Female
/
Humans
/
Infant
/
Pregnancy
Idioma:
En
Revista:
J Obstet Gynaecol Res
Assunto da revista:
GINECOLOGIA
/
OBSTETRICIA
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Egito