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Genome‐wide non‐invasive prenatal screening for all cytogenetically visible imbalances

24 Jan 2018

Abstract excerpt

Non-invasive prenatal testing (NIPT) through the analysis of cell-free DNA (cfDNA) in maternal plasma has been shown to be highly effective in screening for trisomies 21, 18 and 131-3. Based on limited validation data, the testing has also been applied to screening for fetal sex chromosome abnormalities and establishing fetal sex3. NIPT is also available to screen for a specific set of submicroscopic recurrent...

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PMID: 29363829
DOI: 10.1002/uog.19014

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