Introducing WISECONDOR for noninvasive prenatal diagnostics

Abstract

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.

Keywords::

• chromosomal aberrations
• clinical practice
• fetal DNA
• next generation sequencing
• noninvasive prenatal diagnostics

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.

Key issues

• WIthin SamplE COpy Number aberration DetectOR (WISECONDOR) sets a new milestone in prenatal diagnostics by making noninvasive prenatal testing cost-effective and a resolution comparable to chromosome analysis.

• Medical geneticists and obstetricians should be trained to understand WISECONDOR (and other noninvasive prenatal testings), to ensure that they can provide accurate counseling to allow patients to make informed decisions.

• WISECONDOR may uncover maternal copy number aberrations resulting in ethical issues regarding the information that should be provided to the mothers.

• WISECONDOR’s use implies the generation of large amounts next-generation sequencing data requiring the need for appropriate storage. Institutions will have to implement novel information technology solutions to allow this, while taking privacy issues into account.