A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma

Non-invasive prenatal testing (NIPT) using cell-free DNA can detect fetal chromosomal anomalies with high clinical sensitivity and specificity. In approximately 0.1% of clinical cases, the NIPT result and a subsequent diagnostic karyotype are discordant. Here we report a case of a 32-year-old pregna...

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Detalles Bibliográficos
Autores principales: De Falco, Luigia, Vitiello, Giuseppina, Savarese, Giovanni, Suero, Teresa, Ruggiero, Raffaella, Savarese, Pasquale, Ianniello, Monica, Petrillo, Nadia, Bruno, Mariasole, Legnante, Antonietta, Passaretti, Francesco Fioravanti, Ardisia, Carmela, Di Spiezio Sardo, Attilio, Fico, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048202/
https://www.ncbi.nlm.nih.gov/pubmed/36980940
http://dx.doi.org/10.3390/genes14030668

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