Results 11 to 20 of about 5,473 (268)

Role of Prenatal Diagnosis in Thalassaemia Prevention [PDF]

open access: yesJournal of Rawalpindi Medical College, 2017
To determine the role of chorionic villi examination in the prenatal diagnosis of ß- thalassaemia Methods: In this descriptive study couples requesting prenatal diagnosis (PND) for ß- thalassaemia were registered for chorionic villous sampling after 10 ...
Nadeem Ikram
doaj   +2 more sources

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

Prenatal diagnosis of morquio disease type A using a simple fluorometric enzyme assay [PDF]

open access: yes, 1990
A new fluorogenic substrate, 4 methylumbelliferyl B-D-6-sulphogalactoside, was used for the assay of galactose-6-sulphate sulphatase activity in chorionic villi, cultured villus cells, and amniocytes. The fluorometric assay is much more convenient than
Diggelen, O.P. (Otto) van   +6 more
core   +9 more sources

Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome

open access: yesFrontiers in Genetics, 2022
A supernumerary marker chromosome (SMC) is a structurally abnormal chromosome that cannot be characterized by conventional banding cytogenetics. Marker chromosomes are present in 0.075% of prenatal cases.
Pascale Kleinfinger   +8 more
doaj   +1 more source

Trophoblast lineage-specific differentiation and associated alterations in preeclampsia and fetal growth restriction. [PDF]

open access: yes, 2020
The human placenta is a poorly-understood organ, but one that is critical for proper development and growth of the fetus in-utero. The epithelial cell type that contributes to primary placental functions is called "trophoblast," including two main ...
Farah, Omar   +3 more
core   +2 more sources

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  

Evidence for contamination as the origin for bacteria found in human placenta rather than a microbiota.

open access: yesPLoS ONE, 2020
Until recently the in utero environment of pregnant women was considered sterile. Recent high-sensitivity molecular techniques and high-throughput sequencing lead to some evidence for a low-biomass microbiome associated with the healthy placenta.
Rémi Gschwind   +7 more
doaj   +1 more source

Diagnostic Test On Modified Score Of Cesarean Section History In Placenta Accreta Index In Predicting Placenta Accreta Diagnosis In Rsup Dr M Djamil

open access: yesAndalas Obstetrics and Gynecology Journal, 2021
Introduction : Placenta accreta is defined as abnormal implantation of placenta villi which invades myometrium without the presence of decidua bacalis resulting in placenta that is difficult to remove.
Widayat Widayat   +2 more
doaj   +1 more source

A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis [PDF]

open access: yes, 2014
: This report describes the trends of chorionic villus sampling (CVS) referred for prenatal genetic diagnosis in the past two and a half decades in a Portuguese Center.
Fortuna, A.   +5 more
core   +2 more sources

Pregnancy Outcome of Chorionic Villus Sampling on 260 Couples with Beta- Thalassemia Trait in North of Iran [PDF]

open access: yesActa Medica Iranica, 2010
"nChorionic villus sampling (CVS) is a new method and its true risk of fetal loss and complications is not still clearly determined. The objective of this study was to review the clinical pregnancy outcome of transabdominal CVS (TA-CVS) performed on
Nesa Asnafi, Haleh Akhavan Niaki
doaj   +2 more sources

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