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A New Stepwise Molecular Work-Up After Chorionic Villi Sampling in Women With an Early Pregnancy Loss [PDF]

open access: yesFrontiers in Genetics, 2021
Objective: To explore the use of a new molecular work-up based on the stepwise use of Quantitative Fluorescence PCR (QF-PCR) extended to eight chromosomes and single nucleotide polymorphism array (SNP-array) in chorionic villi obtained by chorionic villi
Montse Pauta   +8 more
doaj   +2 more sources

To guide or not to guide: A randomized study on the use of needle guide for chorionic villus sampling training [PDF]

open access: yesActa Obstetricia et Gynecologica Scandinavica
Introduction Chorionic villus sampling (CVS) is an invasive prenatal diagnostic procedure used to detect fetal genetic anomalies. CVS is increasingly replaced by noninvasive prenatal testing (NIPT).
Vilma Johnsson   +8 more
doaj   +2 more sources

Chorionic Villi Sampling among Early and Late Gestational Age: Does Timing Affect Yield and Outcomes? [PDF]

open access: yesAmerican Journal of Perinatology Reports
Julia Kim   +11 more
doaj   +2 more sources

Chorionic Villi Sampling [PDF]

open access: yesJournal of Medical Genetics, 1987
The cytogenetic findings were analysed in a series of 500 pregnancies in which chorionic villi sampling was performed. In all cases a direct method was used, karyotyping being successful in 481 cases (96.2%). The main indication for sampling was maternal age over 36 (412 cases; 82.4%).
Louise Giles, Paul Donnai
  +6 more sources

Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples

open access: yesFrontiers in Genetics, 2023
Objective: We described a unique case of near-negative chromosome mosaicism in chorionic villi but complete monosomy X in amniotic fluid.Methods: Chorionic villus sampling and amniocentesis were performed separately in the first and second trimesters ...
Lingping Li   +26 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

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

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