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Implementation of Non‐invasive Prenatal Testing by Semiconductor Sequencing in a Genetic Laboratory by Annelies Dheedene; Tom Sante; Matthias De Smet; Jean‐François Vanbellinghen; Bernard Grisart; Sarah Vergult; Sandra Janssens; Björn Menten is a Medicine article available to read on EtoBox.
What is Implementation of Non‐invasive Prenatal Testing by Semiconductor Sequencing in a Genetic Laboratory about?
## Abstract ## Objectives To implement non‐invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15‐month experience on clinical samples. ## Methods We validated a NIPT protocol for cell‐free fetal DNA sequencing from maternal plasma for the detection of trisomy 13, 18 and 21 on a semiconductor sequencing instrument. Fetal DNA fraction calculation for all samples and several quality parameters were implemented in the workflow. One thousand eighty‐one clinical NIPT samples were analysed, following the described protocol. ## Results Non‐invasive prenatal testing was successfully implemented and validated on 201 normal and 74 aneuploid samples. From 1081 clinical samples, 17 samples showed an abnormal result: 14 trisomy 21 samples, one trisomy 18 and one trisomy 16 were detected. Also a maternal copy number variation on chromosome 13 was observed, which could potentially lead to a false positive trisomy 13 result. One sex discordant result was reported, possibly attributable to a vanishing twin. Moreover, our combined fetal fraction calculation enabled a more reliable risk estimate for tris
Who reads Implementation of Non‐invasive Prenatal Testing by Semiconductor Sequencing in a Genetic Laboratory?
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- Author
- Annelies Dheedene; Tom Sante; Matthias De Smet; Jean‐François Vanbellinghen; Bernard Grisart; Sarah Vergult; Sandra Janssens; Björn Menten
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley; Research Square (ISSN 0197-3851)
- Published
- 2016
- Language
- EN
- Field
- Medicine (Health Sciences)