A5080791680- Prenatal Screening and Diagnostics
- Hemoglobinopathies and Related Disorders
- Parvovirus B19 Infection Studies
- Congenital Anomalies and Fetal Surgery
- Renal and related cancers
- Genomic variations and chromosomal abnormalities
- Genetic Syndromes and Imprinting
Ospedale Vincenzo Cervello
2022
Abstract Introduction Analysis of fetal DNA in at risk couples for thalassemia is performed from trophoblast or amniotic fluid cells. Although these procedures are common use, the main limitation essentially due to late gestation week which diagnosis performed. The celomic cavity develops around 4 weeks pregnancy within extraembryonic mesoderm and contains embryonic erythroid precursor cells as a source that can be used perform invasive prenatal diagnosis. Methods Celomatic fluids were...
Background: Turner syndrome is a rare genetic condition in which female partly or completely missing an X chromosome. Signs and symptoms vary among those affected. In fetuses that survive at birth without congenital malformations, the prognosis usually positive, but it has high lethality utero, especially first trimester of pregnancy. Methods: We report case monosomy detected during prenatal diagnosis for beta thalassemia on coelomic fluid (CF) VIII week gestation. Beta globin gene analysis,...
The procedures commonly used for prenatal diagnosis (PND) of thalassemia are villocentesis or amniocentesis, respectively, at the 11th and 16th weeks gestation. Their main limitation is essentially due to late gestation week in which performed. celomic cavity accessible between 7th 9th it has been demonstrated that contains embryonic erythroid precursor cells as a source fetal DNA earlier invasive PND other monogenic diseases. In this study, we report use celomatic fluids obtained from nine...