RESUMEN
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.
Asunto(s)
Aberraciones Cromosómicas/sangre , Líquido Amniótico/química , Biomarcadores/sangre , Gonadotropina Coriónica Humana de Subunidad beta/análisis , Aberraciones Cromosómicas/genética , Trastornos de los Cromosomas , Inversión Cromosómica , Cromosomas Humanos Par 9/genética , Femenino , Humanos , Cariotipificación , Embarazo , Segundo Trimestre del Embarazo , Ucrania , alfa-Fetoproteínas/análisisRESUMEN
The results of the formation of women risk groups for invasive methods of prenatal diagnosis and cytogenetic investigations of amniotic fluid are presented. It was shown that the efficiency of prenatal diagnosis was increased due to the complex use of ultrasonography, screening for alpha-fetoprotein and chorionic gonadotropin, and invasive methods of prenatal diagnosis.
Asunto(s)
Amniocentesis , Adulto , Líquido Amniótico/citología , Técnicas de Cultivo de Célula/métodos , Células Cultivadas , Aberraciones Cromosómicas/diagnóstico , Trastornos de los Cromosomas , Femenino , Humanos , Edad Materna , Embarazo , Segundo Trimestre del Embarazo , Factores de RiesgoRESUMEN
The association of the levels of alpha-fetoprotein and chorionic gonadotropin with congenital developmental defects and chromosomal abnormalities of fetus was studied. The correlation of elevated level of alpha-fetoprotein with defects of neuraxis, kidney and abdominal wall of fetus was shown. These data are used for screening of women with a high risk for Down's syndrome and other chromosomal abnormalities.