[Various biochemical parameters in serum of pregnant women carrying fetuses with various congenital defects of development]. / Nekotorye biokhimicheskie pokazateli syvorotki krovi beremennykh plodom s riadom vrozhdennykh porokov razvitiia.

The number of changes in some maternal serum biochemical parameters for some congenital malformations are presented. In all pregnancies we observed low levels of LAT, AST, CPK, HBD, AP and high levels of GGTP, THY, amylase. These data demonstrate total depression in metabolism of women with an affected fetus. The biological basis of altered levels of enzymes in pregnancies with affected fetus is unclear.

[Significance of the maternal levels of serum alpha-fetoprotein, human chorionic gonadotropin and unconjugated estriol in various congenital developmental defects in pregnancy trimester II]. / Znacheniia urovnei materinskogo syvorotochnogo al'fa-fetoproteina, khorionicheskogo gonadotropina cheloveka i nekon"iugirovannogo estriola pri riade vrozhdennykh porokov razvitiia vo II trimestre beremennosti.

Maternal serum alpha-fetoprotein (MSAFP), human chorionic gonadotropin (hCG) and unconjugated oestriol (uE3) concentrations were measured in maternal serum samples from 21 pregnancies with neural-tube defects, 4 pregnancies with ventral wall defects (VWD) and 1662 unaffected pregnancies in women. These congenital malformations were confirmed by ultrasound scanning. The mean multiplate of the median (MoM) for AFP and uE3 was significantly different from the control values in cases of open NTD (AFP median MoM = 5.95, p < 0.001, uE3 median MoM = 0.2, p < 0.001), while hCG values did not differ from those of matched controls (hCG median MoM = 0.9). The biological basis of altered levels of uE3 in pregnancies with fetal NTDs is unclear.

[Prenatal diagnosis as a method of prevention of congenital and hereditary diseases]. / Prenatal'naia diagnostika kak put' profilaktiki vrozhdennykh i nasledstvennykh zabolevanii.

The program of the prevention of congenital and hereditary diseases with the aid of prenatal diagnosis includes a complex of different methods: ultrasonography, invasive procedures made at different times of pregnancy, obstetrical monitoring, immunochemical blood tests, fetal cytogenetic analysis, pathological, anatomical, and syndromological studies in abortuses. Emphasis is laid on the use of the data on ultrasound screening of the pregnant and screening of the mother's blood for some factors that form a group of women at a greater genetic risk, who require prenatal diagnosis. The efficacy of the preventive measures can be enhanced with combined use of instrumental, obstetrical and laboratory research methods. The establishment of the correct and early diagnosis may, on the one hand, remove the tension and concern in the family; on the other hand, it may prevent bearing a sick child and provide the married couple with a based genetic counselling about progeny.

[Detection of chromosomal abnormalities using cordocentesis]. / Vyiavlenie khromosomnoi patologii u plodov pri ispol'zovanii kordotsenteza.

Four cases of cytogenetic prenatal diagnosis of fetuses with chromosomal aberrations are presented: (1) the Patau syndrome; (2) and (4) the Down syndrome; (3) the Klinefelter syndrome. Cordocentesis has been shown to be expedient for rapid and accurate determination of fetus karyotype. Indicative for cytogenetic examination were ultrasonic data, maternal age, the values of AFP, HGG and nonconjugated estreol in maternal serum. Comparison of ultrasonic examination of fetuses with the data on abortus autotopsia was undertaken. The results demonstrate importance of ultrasonic, cytogenetic, biochemical and morphological research in prenatal malformation diagnosis.