[The prenatal diagnosis of Down's syndrome based on the biochemical screening of maternal serum markers]. / Prenatal'naia diagnostika sindroma Dauna na osnove biokhimicheskogo skrininga markerov materinskoi syvorotki.

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.

[The biochemical marker dynamics of the maternal serum in different chromosomal disorders of the fetus]. / Dinamika biokhimicheskikh markerov materinskoi syvorotochki pri razlichnykh khromosomnykh narusheniiakh u ploda.

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.

[The formation of risk groups and the performance of invasive prenatal diagnosis]. / Formirovanie grupp riska i provedenie invazivnoi prenatal'noi diagnostiki.

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.

[The use of the screening of maternal serum factors for the prenatal diagnosis of fetal developmental defects and chromosomal diseases]. / Ispol'zovanie skrininga faktorov materinskoi syvorotki dlia prenatal'noi diagnostiki porokov razvitiia i khromosomnykh zabolevanii ploda.

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.