منابع مشابه
Prenatal diagnosis of genetic disorders.
Three hundred and fifty pregnancies were monitored by transabdominal amniocentesis in the fourteenth to sixteenth week of gestation followed by karyotyping or biochemica assays of cultured amniotic fluid cells and analysis of alpha-fetoprotein in the amniotic fluid supernatant. The pregnancy was interrupted in 36 cases (10%) either becasue of a fetal abnormality or the presence of a male fetus ...
متن کاملReview Article PRENATAL DIAGNOSIS OF GENETIC DISORDERS
Reprint request: Dr. M.L. Kulkarni, Professor of Pediatrics, 2373, MCC A Block, Davangere 577 004. methods of obtaining fetal tissues for karyotype, DISFA studies and enzyme assay(4). The procedure is done at 8-11 weeks of gestation. The transcervical sampling involves insertion of various types of catheters transcervically under ultrasound guidance for aspiration of chorionic villi. Transabdom...
متن کاملPrenatal diagnosis of genetic disorders: trials and tribulations.
Genetic counseling is a major and frustrating problem in medicine today. Patients have become more aware of the genetic aspects of many diseases, and requests for genetic counseling have been increasing steadily. Yet in spite of advances in molecular biology, cytogenetics, and human genetics in general, physicians still have relatively little to offer patients and their families. For example, i...
متن کاملPrenatal, noninvasive and preimplantation genetic diagnosis of inherited disorders: hemoglobinopathies.
Disorders of hemoglobin synthesis have been used as a prototype for the development of most approaches for prenatal diagnosis (PND). PND for hemoglobinopathies based on molecular analysis of trophoblast or amniocyte DNA has accumulated approximately 30 years of experience. Disadvantages with conventional PND include 'invasive' fetal sampling and the need to terminate affected ongoing pregnancie...
متن کاملPrenatal diagnostic tests of genetic disorders: review article
The purpose of prenatal diagnosis tests is insisting of diagnosis of neonatal disorders, preparing a range of informed choices and making couples at risk to be ready for having children with genetic disorders as well. The aim of this article is to investigate all of the tests in order to determine the best one which has the lowest risk and the highest sensitivity. Screening tests (maternal bloo...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1976
ISSN: 1468-6244
DOI: 10.1136/jmg.13.3.182