Failure of NIPT to detect constitutional chromoanasynthesis involving chromosome 21 in a case of fetal hydrops—A case report

We report a case of a de novo ring 21 complex chromosomal rearrangement in a fetus presenting with hydrops. Noninvasive prenatal testing (NIPT) failed to detect the imbalance. This case highlights the need to understand the various limitations and strengths of NIPT technology when counseling patient...

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Detalles Bibliográficos
Autores principales: Bone, Kathleen, MacPherson, Melissa Jean, Chernos, Judy, Lauzon, Julie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878046/
https://www.ncbi.nlm.nih.gov/pubmed/31788271
http://dx.doi.org/10.1002/ccr3.2369

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878046/
https://www.ncbi.nlm.nih.gov/pubmed/31788271
http://dx.doi.org/10.1002/ccr3.2369

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