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On the road to replacing invasive testing with cell‐based NIPT: Five clinical cases with aneuploidies, microduplication, unbalanced structural rearrangement, or mosaicism

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Trophoblastic fetal cells harvested from maternal blood have the capacity to be used for copy number analyses in a cell‐based non‐invasive prenatal test (cbNIPT). Potentially, this will result in increased… Click to show full abstract

Trophoblastic fetal cells harvested from maternal blood have the capacity to be used for copy number analyses in a cell‐based non‐invasive prenatal test (cbNIPT). Potentially, this will result in increased resolution for detection of subchromosomal aberrations due to high quality DNA not intermixed with maternal DNA. We present 5 selected clinical cases from first trimester pregnancies where cbNIPT was used to demonstrate a wide range of clinically relevant aberrations.

Keywords: testing cell; cell based; invasive testing; clinical cases; road replacing; replacing invasive

Journal Title: Prenatal Diagnosis
Year Published: 2017

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