title: Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories.
abstract: Noninvasive prenatal testing (NIPT) for fetal aneuploidies using cell-free fetal DNA in maternal plasma has revolutionized the field of prenatal care and methods using massively parallel sequencing are now being implemented almost worldwide. Substantial progress has been made from initially testing for (an)euploidies of chromosomes 13, 18 and 21, to testing for sex chromosome (an)euploidies, additional autosomal aneuploidies as well as partial deletions and duplications genome-wide. Although NIPT is associated with significantly reduced risks for the fetus in comparison to existing invasive prenatal diagnostic methods, it presents several implementation challenges. Here, we review key issues potentially influencing NIPT and illustrate them using both data from literature and in-house data.
authors.affiliation: Radboud University Medical Center, Nijmegen, Netherlands.
authors.forename: Djie Tjwan
authors.initials: DT
authors.lastname: Thung
authors.forename: Lean
authors.initials: L
authors.lastname: Beulen
authors.forename: Jayne
authors.initials: J
authors.lastname: Hehir-Kwa
authors.forename: Brigitte H
authors.initials: BH
authors.lastname: Faas
mesh_terms: D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D059014:High-Throughput Nucleotide Sequencing / Q000592:standards*; D006801:Humans; D025202:Molecular Diagnostic Techniques; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000592:standards*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
keywords: NGS; NIPT; depth of coverage; noninvasive; prenatal; whole genome sequencing