Implementation of Non-invasive Prenatal Testing by Semiconductor Sequencing in a Genetic Laboratory

Overview

Journal Prenat Diagn

Publisher Wiley

Specialty Gynecology & Obstetrics

Date 2016 May 14

PMID 27176606

Citations 8

Authors

Annelies Dheedene

Tom Sante

Matthias De Smet

Jean-Francois Vanbellinghen

Bernard Grisart

Sarah Vergult

Sandra Janssens

Bjorn Menten

Affiliations

Soon will be listed here.

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 trisomy 13, 18 and 21.

Conclusions: Non-invasive prenatal testing for trisomy 21, 18 and 13 has a very high specificity and sensitivity. Because of several biological phenomena, diagnostic invasive confirmation of abnormal results remains required. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

Citing Articles

SCAN: a nanopore-based, cost effective decision-supporting tool for mass screening of aneuploidies.

Schack A, Garrido-Navas M, Galevski D, Madjarov G, Krych L Hum Genomics. 2024; 18(1):131.

PMID: 39578906 PMC: 11583562. DOI: 10.1186/s40246-024-00690-w.

Calculation of Fetal Fraction for Non-Invasive Prenatal Testing.

Cserhati M BioTech (Basel). 2022; 10(3).

PMID: 35822771 PMC: 9245487. DOI: 10.3390/biotech10030017.

Assessing aneuploidy with repetitive element sequencing.

Douville C, Cohen J, Ptak J, Popoli M, Schaefer J, Silliman N Proc Natl Acad Sci U S A. 2020; 117(9):4858-4863.

PMID: 32075918 PMC: 7060727. DOI: 10.1073/pnas.1910041117.

Noninvasive Prenatal Testing - When Is It Advantageous to Apply.

Liehr T, Lauten A, Schneider U, Schleussner E, Weise A Biomed Hub. 2020; 2(1):1-11.

PMID: 31988902 PMC: 6945944. DOI: 10.1159/000458432.

PREFACE: In silico pipeline for accurate cell-free fetal DNA fraction prediction.

Raman L, Baetens M, De Smet M, Dheedene A, Van Dorpe J, Menten B Prenat Diagn. 2019; 39(10):925-933.

PMID: 31219182 PMC: 6771918. DOI: 10.1002/pd.5508.

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