The article presents our experience with the method of array comparative genomic hybridization (aCGH) during examining fetuses with increasing of the nuchal translucency and normal karyotype in the I trimester of pregnancy. On the basis of recommended algorithms pathogenic and likely pathogenic copy number variation (CNV) were identified in 8.3% cases. One CNV was presented as a rare 13q deletion syndrome. Pregnancy with this syndrome was terminated due to association with severe malformations of the fetus. CGH method can be applied an as essential complement to standard cytogenetic methods or its alternative in some cases.

It was defined that in the first period of fetus gestation, for a child wih a high risk of chromosome disorder, there should be an examination of fetus kariotype. And it has to be done before the second period of fetus gestation nithout delay. In case, if status examination bas not been conducted during the first period of fetus gestation, than it is recommended to be done in the second period of fetus gestation

Heterozygotic carriers of 21-hydroxylase deficiency were detected by prolonged ACTH stimulation test. Stepwise discriminant analysis was used for data processing, which helped derive a function: D = 0.052 x X1 + 0.05 x X2 -0.018 x X3 = 0.069, where X1 is 17-hydroxylase concentration 9 h after ACTH infusion, X2 ratio of basel hydrocortisone concentrations to 17-hydroxylase, and X3 ratio of hydrocortisone concentrations to 17-hydroxylase 9 h after ACTH of infusion. Clinical efficacy of detection of heterozygotic carriers was 85%.

A total of 103 samples of amniotic fluid obtained by transabdominal amniocentesis were examined, 52 of these from women at a high risk of giving birth to children with congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency and 30 ones with fetuses with different neural tube malformations. 17-Hydroxyprogesterone was found to be a reliable marker indicating the disease in fetuses from the group at risk of hereditary 21-OH deficiency. This marker can be effectively used as early as in the 1 gestation trimester. Fetal CNS defects are associated with hypofunction of the adrenal cortex in the II gestation trimester, observed in 60-63% of cases with hydrocephalus, anencephaly, or microcephaly. Since the function of fetal adrenals is of paramount importance for the development and maturation of a fetus, it should be examined in case of developmental defects of the neural tube, in order to predict the effect of prenatal treatment.

Fetal blood was collected in 83 women, 71 of these before abortions and in 12 of them with diagnostic purpose. Cardiocentesis was used in 31 cases, cordocentesis in 52. Obstetrical situation was analyzed and fetal heart beat recorded during the procedure. Blood group and rhesus appurtenance were determined in blood samples, Kleinhauer-Batke test was carried out, karyotype, HLA phenotype, and DNA analyzed. A positive result was found dependent on the adequate assessment of an obstetrical situation during fetal blood collection, as well as on equipment resolution power and physicians' experience. The possibility of practical use of cordo- and cardiocentesis is discussed with due consideration for these factors.

The paper presents the results of investigations of 30 Slavic families with different types of congenial adrenal hyperplasia (CAH). The classic types of CAH were established to be associated with HLA B14 in most cases. This fact proves the presence of new mutation of 21-hydroxylase (21-OH) gene. The nature of this mutation was studied by polymerase chain reactions in two points: 3rd and 8th exons. The mutation in the third exon was recorded as deletion of 8 nucleotide pairs. The 8th exon appeared to be unchanged. The mutation in the homozygotic state causes a salt-losing type of disease with marked decreases in 21-OH activity. A significant decreases of 21-OH activity were also detected in the heterozygotic carriers during ACTH stimulation. This mutation was discovered in 28% of chromosomes of patients with salt-losing type of CAH.

The paper presents the results of investigations of 30 Slavic families with different types of congenial adrenal hyperplasia (CAH). The classic types of CAH were established to be associated with HLA B14 in most cases. This fact proves the presence of new mutation of 21-hydroxylase (21-OH) gene. The nature of this mutation was studied by polymerase chain reactions in two points: 3rd and 8th exons. The mutation in the third exon was recorded as deletion of 8 nucleotide pairs. The 8th exon appeared to be unchanged. The mutation in the homozygotic state causes a salt-losing type of disease with marked decreases in 21-OH activity. A significant decreases of 21-OH activity were also detected in the heterozygotic carriers during ACTH stimulation. This mutation was discovered in 28% of chromosomes of patients with salt-losing type of CAH.

The paper presents different ways of preventing the perinatal morbidity and mortality due to genetically predisposed abnormalities, such as environmental protection; definition of the factors having a mutagenic influence on the female; family planning, medicogenetical advisory. It also outlines the methods of perinatal diagnosis, which is now the most effective tool for birth prophylaxis of a baby with a hereditary abnormality.

The paper presents different ways of preventing the perinatal morbidity and mortality due to genetically predisposed abnormalities, such as environmental protection; definition of the factors having a mutagenic influence on the female; family planning, medico-genetic advisory. It also outlines the methods of perinatal diagnosis, which is now the most effective tool for birth prophylaxis of a baby with a hereditary abnormality.

For the prenatal diagnosis of the fetal status, amniocentesis was performed in 9-12-week pregnancy in 31 females at risk for birth of a baby with chromosomal abnormalities and congenital malformations of the central nervous system. There were no difficulties in carrying out the procedure. A balanced translocation-bearing female was found to have a fetal chromosomal abnormality. Her pregnancy was interrupted at the 11th week; the prenatal diagnosis was evidenced by cytogenetic examination of the abortion specimen. The amniotic fluid alpha-fetoprotein estimated by radioimmunoassay ranged from 15-18 to 550-620 ng/ml. The findings suggest that early amniocentesis may be useful in the prenatal diagnosis of the fetal status and further evidence should be accumulated.

Potentials of the most common chorionic sampling methods have been examined: transcervical biopsy (TCB) (n-65), transcervical aspiration (TCA) (n-63) and transabdominal aspiration (TAA) (n-10). These procedures were done in outpatient settings at 6-12 week's gestation with sonographic guidance using accepted methodologies. TCB and TCA yielded 14.3 mg and 27.5 mg of a sample, respectively. The chorionic sample obtained with TAA was at best 3 mg. The incidence of successful chorionic sampling was 92.4% for TCB, 76.1% for TCA and 80.0% for TAA. Spontaneous abortions occurred after TAA (7.9%) and combined transcervical procedures (10%). These results suggest a potential of TCB and TCA in first-trimester prenatal diagnosis, but TCB has a number of advantages. TAA is a promising technique which, however, requires further sophistication.

This paper reports the results of evaluation of reproductive histories of 52 heterozygous female carriers of 21-hydroxylase deficiency who gave birth to children with classic congenital adrenocortical hyperplasia. Functional ACTH adrenal tests of these women were compared with those in a control group of noncarriers. Test findings are discussed with respect to the pathogenesis of reproductive tract disorders in the carriers of a mutant gene.