Results 11 to 20 of about 7,094 (160)

Examination and Sampling of Chorionic Villi for the Diagnosis of Beta-Thalassemia Major in the First Trimester of Pregnancy in Southwestern Iran [PDF]

open access: yesArmaghane Danesh Bimonthly Journal, 2023
Background & aim: Beta thalassemia is one of the most common hereditary diseases in Iran. The birth of a child with thalassemia causes many social and economic problems for parents and the health care system.
E Shams   +3 more
doaj  

Confined placental mosaicism of Duchenne muscular dystrophy: a case report

open access: yesMolecular Cytogenetics, 2020
Background Small copy number variations confined to the placenta are extremely rare findings in chorionic villus sampling, nonetheless of great clinical importance.
Max Winerdal   +4 more
doaj   +1 more source

Uncommon Presentation of Triploidy: A Case Report [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2015
A 28-year-old woman presented in her first pregnancy was admitted with severe hyperemesis gravidarium. Increased nuchal translucency with cardiac anomaly and omphalocele at the first trimester was observed at the ultrasound examination. Chorionic villus
Işil Uzun   +4 more
doaj   +1 more source

Relevance of Invasive Testing in Era of Non-Invasive Testing for Prenatal Chromosomal Abnormalities

open access: yesGynecology Obstetrics & Reproductive Medicine, 2022
Prenatal screening for chromosomal abnormalities has two components i.e. prenatal screening (maternal serum screening and cell-free fetal DNA screening) and prenatal diagnosis (chorionic villus sampling, amniocentesis, and cordocentesis).
Abhijeet Kumar   +2 more
doaj   +1 more source

Discordant structural chromosomal aberrations in chorionic villi and amniotic fluid leading to a formation of an isochromosome 21: a case report

open access: yesMolecular Cytogenetics, 2021
Background Fetoplacental discrepancies occur in approximately 1–2% of analyzed prenatal cases. They are typically due to confined placental mosaicism, where an aberration is observed in the placental cells but not found in the fetal cells.
Eini Westenius   +2 more
doaj   +1 more source

Chorionic Villus Sampling

open access: yesDonald School Journal of Ultrasound in Obstetrics and Gynecology
Maines J, Montero FJ.
europepmc   +2 more sources

Chorion Villus Biopsy [PDF]

open access: yesClinics in Obstetrics and Gynaecology, 1985
Chorion villus biopsy answers the pressing need for early prenatal diagnosis. The technique is carried out at about 10 weeks gestation and in most instances this tissue is amenable to direct analysis without culture. This technique is particularly suitable for gene probe diagnosis.
openaire   +3 more sources

Examination and Sampling of Chorionic Villi for the Diagnosis of Beta-Thalassemia Major in the First Trimester of Pregnancy in Southwestern Iran

open access: yesArmaghane Danesh Bimonthly Journal, 2022
Background & aim: Beta thalassemia is one of the most common hereditary diseases in Iran. The birth of a child with thalassemia causes many social and economic problems for parents and the health care system.
E Shams   +3 more
doaj  

Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G > A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series

open access: yesInternational Journal of Reproductive BioMedicine, 2022
Background: Citrullinemia type 1 is an autosomal recessive disease resulting in ammonia accumulation in the blood, and if uncontrolled may progress to coma or death in the early months after birth.
Maryam Hassanlou   +2 more
doaj   +1 more source

CYTOGENETIC PRENATAL DIAGNOSIS ON 66 CHORIONIC VILLUS SAMPLES IN IRAN [PDF]

open access: yesIranian Journal of Public Health, 1992
A total number of 66 chorionic villus samples were cytogenetically investigated. The samples consisted of 30 experimental cvs from spontaneously aborted materialand 36 from live gestations.80% of the samples were successfully grown, of the 30 cases 40 ...
P. Mehdipour
doaj   +2 more sources

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