Bookedited by Lieve Page-Christiaens, Hanns-Georg Klein.
Summary: "Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation"--Publisher's description.
Contents:
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