Chromosomal analysis in preparations from chorionic villi and amniotic fluid cell cultures

Chromosomal analysis in preparations from chorionic villi and amniotic fluid cell cultures

Prenatal Diagnosis, Sampling of Chorionic Villi

Prenatal diagnosis with application of the Amniotic fluid (Amniocentesis: AC) and chorionic villi sampling {CVS) is a general aspect of application in Human Genetics which facilitate the diagnosis of different Genetic defects, enclosing chromosomal abnormalities and Genosomopathies. Diagnosis of Genetic defects for AC and CVS is between 16-20th and 8-12th weeks of gestation respectively. Allica...

Spontaneous and induced chromosome breakage in chorionic villus samples: a cytogenetic approach to first trimester prenatal diagnosis of ataxia telangiectasia syndrome.

Patients with ataxia telangiectasia (AT) syndrome exhibit a high level of spontaneous chromosome aberrations, with hypersensitivity to gamma radiation and radiomimetic chemicals at the chromosomal and cellular level. Previously pregnancies at risk for AT have been screened solely by analysis of amniotic fluid samples. In this report we describe a cytogenetic approach to the prenatal diagnosis o...

RESULTS OF CYTOGENETIC ANALYSIS OF 521 AMNIOTIC FLUID CELL CULTURES (AMNIOCENTESES) PERFORMED IN IRAN

The indications and results of cytogenetic analysis of 521 amniotic cell cultures performed at 13-16 weeks of gestation were evaluated in this study. 507 fetuses (97.3%) were cytogenetically normal, 14 (2.7%) had unbalanced karyotypes, and 2 fetuses were found to have major abnormalities, one with anencephaly detected by measurement of alpha -fetoprotein levels in amniotic fluid and ultraso...

Advances in the prenatal diagnosis of hematologic diseases.

Prenatal diagnosis of hematologic diseases can now be performed with fetal blood, fetal amniotic fluid cell DNA, and fetal chorionic villi DNA. Some hemoglobinopathies can be detected by all three methods, and the choice will depend on the available obstetric and laboratory techniques, as well as the time of presentation of the pregnancy. Hopefully, further development of molecular probes and t...