[Morphological characteristics of chorion in spontaneous abortions of chromosomic etiology]. / Morfologicheskaia kharakteristika khoriona pri spontannykh abortakh khromosomnoi étiologii.

Morphological investigation of spontaneous abortions (SA) with normal and abnormal karyotype (220 specimens of the first trimester SA) was carried out. It included a histological pattern, apoptosis and proliferative activity. Estimation of apoptotic index (AI) was carried out in 7 cases of SA with normal karyotype and 7 cases of SA with pathological karyotype using the ApopTag Peroxidase Kits (Biotech, USA). The material of 4 therapeutic abortions was taken as the control group. The proliferative activity (PA) was determined as the rate of Ki-67-positive cytotrophoblast cells. PA was examined in SA groups with normal (15 cases) and pathological (15 cases) karyotypes and 20 cases of control group. Identical morphological signs of the development retardation of the villi were diagnosed among abortuses with normal karyotype and with aneuploidies. The diameter of the villi was bigger in aneuploid SA than in SA with normal karyotype (p > 0.05). The partial moles were diagnosed in triploidy, as it was expected. High level of AI and PA in the control group was revealed. In SA with pathological karyotype a high rate of AI accompanied a low level of PA. The AI and PA were low in SA with normal karyotype. However, the largest uncorrelation between AI and PA in extravillous trophoblast cells of SA with chromosomal anomalies were observed: the level of AI was higher than the level of PA. We suppose that the last one leads to the abruption of the ovum.

[A program of prevention of hereditary lysosomal diseases in the USSR]. / Programma profilaktiki nasledstvennykh lizosomnykh boleznei v SSSR.

The organization of genetic counselling for the families of patients with lysosomal storage diseases (LSD) was based on the interaction of the genetic counselling units of this country with a laboratory of inherited metabolic diseases of the National Research Center of Medical Genetics, USSR AMS. All the patients from 705 families at risk were examined using biochemical techniques and methods of somatic cell genetics. In total the loci differentiation was performed for 309 patients with mucopolysaccharidoses, glycoproteinoses, mucolipidoses, sphingolipidoses and other LSD. 53 families at risk (of 277) were prenatally diagnosed. 66 fetuses were diagnosed for mucopolysaccharidoses, type I, II, III, A and B, VI, Tay-Sachs disease, Sandhoff's disease, GM1-gangliosidosis, metachromatic leukodystrophy, mannosidosis, and multiple sulfatidosis. In total 18 affected fetuses were diagnosed and aborted. All the prenatal diagnoses were verified. The prevalence of mucopolysaccharidoses in two Central Asian republics was evaluated as 1:15,000. An Uneven ethnic distribution of different mucopolysaccharides in the USSR has also been shown.