ABSTRACT
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.
Subject(s)
Congenital Abnormalities/prevention & control , Genetic Diseases, Inborn/prevention & control , Prenatal Diagnosis , Adult , Female , Genetic Counseling , Humans , Infant, Newborn , Pregnancy , Ultrasonography, PrenatalABSTRACT
Mass screening of married couples in the town of Baku has revealed a couple at risk of giving birth to a child with homozygotic beta-thalassemia. Prenatal diagnosis was carried out during week 23 of pregnancy by means of cordocentesis and biochemical analysis of globin chains, in vitro synthesized in fetal blood in the presence of labeled leucin. beta-thalassemia was detected in the fetus, similarly as in the child in this family. Abortion was induced on pregnancy week 25. Prenatal diagnosis is recommended in case of another pregnancy during the first trimester, involving analysis of the chorionic villi DNA.
Subject(s)
Globins/analysis , Mass Screening/methods , Pregnancy Complications, Hematologic/diagnosis , Prenatal Diagnosis/methods , Thalassemia/diagnosis , Adult , Azerbaijan , Female , Globins/genetics , Homozygote , Humans , Mass Screening/organization & administration , Pregnancy , Pregnancy Complications, Hematologic/blood , Pregnancy Trimester, Second , Thalassemia/blood , Thalassemia/genetics , Thalassemia/prevention & controlABSTRACT
A married couple with a risk to have a child with sickle-cell anemia has been detected as a result of mass screening of pregnant women in Baku. The prenatal diagnosis was made on the 26th week of pregnancy by means of chordocentesis and biosynthesis of globin chains that revealed the absence of normal beta-globin chain synthesis in the presence of beta S. The diagnosis of sickle-cell anemia was confirmed after abortion in the fetal blood material obtained from the heart by isoelectro-focussing. The family has received a recommendation on the prenatal DNA-diagnosis in the first trimester on the next pregnancy.
Subject(s)
Anemia, Sickle Cell/diagnosis , Fetal Blood/analysis , Hemoglobin, Sickle/analysis , Prenatal Diagnosis/methods , Adult , Anemia, Sickle Cell/blood , Chromatography, Ion Exchange/methods , Female , Humans , Isoelectric Focusing/methods , Pregnancy , RussiaABSTRACT
Synthesis of the beta-globin protein was completely absent in some patients (beta 0-thalassemia); in the other group of patients beta-globins were synthesized although at the markedly decreased rate (beta +-thalassemia). Content of beta-globin mRNA decreased in beta+-thalassemia but considerable amount of the mRNA was found in beta 0-thalassemia. A procedure is developed for analysis of the globin mRNA ratio, which involves immobilization of the RNA on diaminobenzylhydroxymethylated paper and hybridization using highly labelled DNA of recombinated plasmides containing synthetic alpha- and beta-globin genes. Restrictional mapping of the DNA globin genes was carried out in some patients.
