RESUMEN
While studying the pathogenetic mechanisms of Down syndrome, the imbalance of oxidant-antioxidant system in donors of extrachromosome 21 was detected. This fact was a basis for screening of new prenatal biochemical markers of Down syndrome. The ratio of free radical processes intensity and SOD activity was found as most informative index reflecting the state of oxidant-antioxidant system. It was proposed as additional criterion for the formation of high risk groups to increase the efficiency of prenatal diagnostics of Down syndrome.
Asunto(s)
Antioxidantes/metabolismo , Pruebas Genéticas/métodos , Oxidantes/sangre , Adolescente , Adulto , Biomarcadores/sangre , Cromosomas Humanos Par 21/genética , Síndrome de Down/sangre , Síndrome de Down/diagnóstico , Síndrome de Down/etiología , Síndrome de Down/genética , Eritrocitos/enzimología , Femenino , Radicales Libres/sangre , Humanos , Persona de Mediana Edad , Embarazo , Diagnóstico Prenatal/métodos , Diagnóstico Prenatal/estadística & datos numéricos , Factores de RiesgoRESUMEN
The role of maternal alpha-fetoprotein and chorionic gonadotprin screening in complex prenatal diagnosis of Down syndrome had been studied. The average markers' values in cases of fetus trisomy 21 were 0.67 MoM (AFP) and 2.68 MoM (HGG). The correlative dependence between the markers' levels in trisomy 21 and the date of testing have been found. The high efficiency of differentiative approach to invasive investigations in the older age group of pregnant (above 35 years old) on the basis of AFP and HGG screening has been established.
Asunto(s)
Gonadotropina Coriónica/sangre , Síndrome de Down/diagnóstico , Enfermedades Fetales/diagnóstico , Diagnóstico Prenatal/métodos , alfa-Fetoproteínas/análisis , Adulto , Amniocentesis , Biomarcadores/sangre , Femenino , Humanos , Edad Materna , Embarazo , Primer Trimestre del Embarazo , Segundo Trimestre del Embarazo , Factores de RiesgoRESUMEN
The reasons for false-positive results of Down syndrome screening have been analysed. It has been found that the family pericentric inversions of chromosome 9 in fetus are accompanied by AFP and HCG changes equal to Down syndrome pregnancies. The average marker's levels in cases of per inv (9) were: AFp-0.51 MoM, HCG-3.71 MoM. The dynamics of markers in amniotic fluid has been studied. Clinical significance of per inv (9) in medicogenetic consultation were discussed.