Results 11 to 20 of about 2,740 (178)

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples. [PDF]

open access: yesPrenat Diagn
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Vladoiu MC   +7 more
europepmc   +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

Normal postnatal outcome in an r(X) mosaic male fetus with retained XIST gene

open access: yesJournal of Pediatric and Neonatal Individualized Medicine, 2020
We report the case of a pregnant woman who underwent prenatal diagnosis by chorionic villi sampling for increased risk of trisomy 21 due to advanced age and abnormal results of the first trimester combined screening test.
Maura Mingoia   +3 more
doaj   +1 more source

Adequate Placental Sampling for the Diagnosis and Characterization of Placental Infection by Zika Virus

open access: yesFrontiers in Microbiology, 2020
The detection of Zika virus (ZIKV) in immunoprivileged anatomical sites, potential sites for viral persistence, may guide the confirmation of undefined cases of ZIKV infection and also bring to light unknown pathways of viral transmission.
Emanuella Meneses Venceslau   +39 more
doaj   +1 more source

Hepatosplenomegaly Associated with Transient Abnormal Myelopoiesis in Down Syndrome: An Autopsy Case of a Stillborn Fetus

open access: yesCase Reports in Oncology, 2015
A 38-year-old primiparous mother (gravida 1, para 0) at 27 weeks and 6 days' gestation reported that fetal movements had been absent for 6 days. All serological markers for infection were negative.
Michiko Yuki   +5 more
doaj   +1 more source

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  

A decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018

open access: yesActa Obstetricia et Gynecologica Scandinavica, 2023
Introduction In 2011, it was decided to implement chromosomal microarray in prenatal testing in the Central Denmark Region, mainly due to the expected higher diagnostic yield.
Dorte Launholt Lildballe   +9 more
doaj   +1 more source

When NIPT meets WES, prenatal diagnosticians face the dilemma: genetic etiological analysis of 2,328 cases of NT thickening and follow-up of pregnancy outcomes

open access: yesFrontiers in Genetics, 2023
Objective: To assess the performance of diverse prenatal diagnostic approaches for nuchal translucency (NT) thickening and to investigate the optimal prenatal screening or diagnostic action with a NT thickening of 95th percentile-3.50 mm.Methods: A ...
Xueqi Ji   +21 more
doaj   +1 more source

Influence of advanced maternal age and gestational age on the morphology of human placenta [PDF]

open access: yesScripta Medica
Background/Aim: The placenta is an extraembryonic organ necessary for foetal development. Due to its availability and high content of stem cells and growth factors, placenta tissue has found its application in regenerative medicine. The aim of this paper
Jovičić Sanja   +5 more
doaj   +1 more source

Abortion for Fetal Genetic Abnormalities: Type of Abnormality and Gestational Age at Diagnosis

open access: yesAmerican Journal of Perinatology Reports, 2020
Background Advances in genetic screening can identify patients at high risk for common genetic conditions early in pregnancy and can facilitate early diagnosis and early abortion. Less common abnormalities might only be diagnosed with invasive testing is
Tracy B. Grossman, Stephen T. Chasen
doaj   +1 more source

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