[Intrauterine blood transfusion as a method of treatment of the edematous form of hemolytic disease of newborn]. / Vnutrimatochnye perelivaniia krovi plodu kak sposob lecheniia otechnoi formy gemoliticheskoi bolezni.

Results are reported with intrauterine donor blood transfusions in 7 fetuses with hydropic hemolytic disease. Eight intraabdominal and 8 intravascular sonographically guided fetal transfusions were given at 25-30 weeks' gestation with fetal heart rate monitoring. The criteria for efficacy were disappearance of ascites, reduction in fetal hepatic and splenic sizes, thinning of the placenta. Three fetuses died in utero from symptomatic hydropic hemolytic disease despite the therapy. Four other fetuses were delivered at 30-34 gestational weeks by cesarean section and showed no abdominal ascites. One of the fetuses died from birth trauma on the second postnatal day while the other three were discharged in a satisfactory condition.

[A cytogenetic study of the human chorion for the purpose of the prenatal diagnosis of hereditary diseases]. / Tsitologicheskoe issledovanie khoriona cheloveka s tsel'iu prenatal'noi diagnostiki nasledstvennykh boleznei.

Cytogenetical investigation of 50 diagnostic chorionic villus samples from women with a high risk of giving birth to babies with chromosomal and genic pathology, and of 128 chorionic samples obtained from medical abortions, both on the 8-12th weeks of gestation was performed by means of original direct chromosomal analysis. Chromosomal anomalies were found in 6 cases of diagnostic chorion biopsies (12%) and in 4 cases (3%) of medical abortions. The former group included 5 embryos with autosomal trisomy (4--Ts21 and 1--Ts13) and one embryo with monosomy 18. The latter group contained 2 embryos with X-chromosome monosomy and 2 other with chromosomal mosaicism. A significant prevalence of the female sex was found in the diagnostic group (sex ratio 0.56), but not in the medical abortion one (sex ratio 1.0). Analysis of routine chromosomal preparations and those after in situ hybridization with X-chromosome alfoid-probe YAP 1-10 revealed polyploidy in average in 0.8-1% chorion cells. The feasible causes of sex ratio distortion in embryos of diagnostic group and factors responsible for the rate of polyploidy are discussed. High reliability of originally elaborated direct "shaking-blotting" method of chromosomal preparations from chorionic villus samples is stressed.

[Activity of enzymes in amniotic fluid in prenatal diagnosis of cystic fibrosis]. / Issledovanie aktivnosti fermentov amnioticheskoi zhidkosti v prenatal'noi diagnostike mukovistsidoza.

The activity of microvillar enzymes--gamma-glutamyltranspeptidase, aminopeptidase, general and intestinal forms of alkalyne phosphotases was studied in amniotic fluid (AF) of 33 women with 25% risk of cystic fibrosis (CF) (mucoviscidoses) in their progeny. The figures obtained in this group were compared with corresponding values of the same enzymes in 100 AF samples from normal pregnancies (negative control) and with 9 AF samples from women which were known to give birth to the children with CF (positive control). CF has been predicted in 5 cases, pregnancies were artificially terminated in 4 women. Biochemical CF prediction was proved by immunochemical assay of albumin contents in meconium of fetal ileum. One woman from the high risk group refused abortion and gave birth to a CF child. Among 26 cases of low CF prediction, 13 resulted in birth of a child without a sign of CF, one - in a child with clear-cut diagnosis of CF and 12 other pregnancies still proceed. The efficiency of complex biochemical, pathomorphological and molecular approaches for verification of intrauterine CF diagnosis in aborted fetuses as well as for detection of heterozygous carriers of CF gene and prenatal diagnosis of CF is discussed.