Noninvasive prenatal testing (NIPT): applied genomics in prenatal screening and diagnosis

Section 1: Cell-freeDNA (CfDNA): overview and technology. Fetal DNA in maternal plasma: an amazing two decades -- Understanding the basics of next generation sequencing in the context of cell-free DNA based NIPT -- The technology and bioinformatics of cell-free DNA based NIPT -- Section 2: CfDNA in clinical practice. Prenatal screening for common aneuploidies before and after the introduction of cell-free DNA based NIPT -- Why cell-free DNA based NIPT for fetal chromosome anomalies is not diagnostic -- The role of cell-free DNA based NIPT in twin pregnancy -- Genomewide testing for autosomal trisomies and copy number variations -- Non-invasive fetal blood group typing -- Noninvasive prenatal diagnosis (NIPD) of monogenic disorders -- Maternal constitutional and acquired copy number variations (CNVs) -- Section 3: Clinical integration. Best practices for integrating cell-free DNA based NIPT into clinical practice -- Quality assurance and standardization of cell-free DNA based NIPT laboratory procedures -- Decisional support for expectant parents -- Cell-free DNA based NIPT and society -- Ethics of cell-free DNA based NIPT for sex chromosome aneuploidies and sex determination -- Cost-effectiveness of cell-free DNA based NIPT: summary of evidence and challenges -- Section 4: The future. Exome sequencing in the evaluation of the fetus with structural anomalies -- Cell-based NIPT: a promising path for prenatal diagnosis -- Maternal circulating nucleic acids as a marker of placental health -- Prenatal treatment of genetic diseases in the unborn"