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Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report

BACKGROUND: Noninvasive prenatal testing (NIPT) is the most recent modality widely used in prenatal diagnostics. Commercially available NIPT has high sensitivity and specificity for the common fetal chromosomal aneuploidies. As future advancements in NIPT sequencing technology are becoming promising...

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Detalles Bibliográficos
Autores principales: Sahinbegovic, Hana, Andres, Stephanie, Langer-Freitag, Sabine, Divane, Aspasia, Ieremiadou, Fotini, Mehmedbasic, Senad, Catic, Aida
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8977037/
https://www.ncbi.nlm.nih.gov/pubmed/35366924
http://dx.doi.org/10.1186/s13039-022-00592-3