Introducing WISECONDOR for noninvasive prenatal diagnostics.
Noninvasive prenatal testing is a relatively new screening method for the detection of fetal chromosome abnormalities using next-generation sequencing (NGS) of fetal DNA in maternal blood. Recently, the introduction of a new tool called WIthin SamplE COpy Number aberration DetectOR (WISECONDOR) marked a new era in prenatal screening. WISECONDOR detects copy number aberrations at a resolution that is almost comparable to classic karyotyping and requires only shallow sequencing, making noninvasive prenatal screening cost-effective. This emphasizes the role of NGS in the daily clinical practice of prenatal diagnosis and will require reorganization of clinical genetics laboratories to accommodate NGS. For prenatal diagnostics, WISECONDOR introduces an exciting development that will substantially improve the information provided to pregnant couples regarding their fetus's wellbeing.
Delft Bioinformatics Lab, Delft University of Technology, Mekelweg 4, 2628 CD Delft, The Netherlands.
Roy
R
Straver
Erik A
EA
Sistermans
Marcel J T
MJ
Reinders
D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D062145:Maternal Serum Screening Tests / Q000379:methods*; D011247:Pregnancy; D017422:Sequence Analysis, DNA / Q000379:methods*
chromosomal aberrations; clinical practice; fetal DNA; next generation sequencing; noninvasive prenatal diagnostics