[The steroid content of the amniotic fluid in the 1st and 2nd pregnancy trimesters in 21-hydroxylase insufficiency and in fetal central nervous system defects]. / Soderzhanie steroidov v amnioticheskoi zhidkosti v I i II trimestrakh beremennosti pri nedostatochnosti 21-gidroksilazy i porokakh tsentral'noi nervnoi sistema ploda.

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.

[Prenatal DNA-diagnosis of Duchenne muscular dystrophy]. / Prenatal'naia DNK-diagnostika miodistrofii Diushenna.

Two prenatal diagnoses were carried out by the technique of intragenic polymorphous marker detecting heterozygosity in pregnant women in the families with cases of Duchenne muscular dystrophy. In both cases the DNA fragment from pERT87-15 region was amplified. This fragment includes a polymorphous site in BamHI region of recognition. DNA analyses of the families members have been made and the genetical risk has been calculated by the Bayes method. The prognoses for both fetuses are good.

[Carrier detection and prenatal diagnosis of Duchenne's muscular dystrophy based on DNA analysis]. / Ustanovlenie nositel'stva i prenatal'naia diagnostika miodistrofii Diushenna na osnove analiza DNK.

Seven families with histories of Duchenne's muscular dystrophy underwent DNA diagnosis. The daughters of those consulted were examined for the carriage in 4 families. Their carriage was rejected or confirmed. Prenatal diagnosis was made in 2 families. In another family an abortion preceded obtaining molecular-genetic evidence. Probes 754, p20, XJI.I and primers for amplification of the site pERI87-15 containing a polymorphic locus were employed. The genetic risk was assessed using the computer program GenRisk adjusted for family history and DNA test allowances.