Noninvasive Fetal Blood Group Typing
Abstract Noninvasive fetal genotyping for alloantigens of blood cells is indicated in relation to hemolytic disease of the fetus and newborn (HDFN) and fetal neonatal alloimmune thrombocytopenia (FNAIT). In a…
Noninvasive Prenatal Diagnosis of Monogenic Disorders
Abstract Noninvasive prenatal diagnosis (NIPD) for monogenic disorders is relevant to couples that have a high risk of an affected pregnancy due to either a family history of a disorder…
Fetal DNA in Maternal Plasma: An Amazing Two Decades
Abstract In 1997, it was discovered that during human pregnancy, a fetus would release its DNA into the blood plasma of its pregnant mother. Circulating cell-free fetal DNA in maternal…
Quality Assurance and Standardization of Cell-Free DNA-Based Prenatal Testing Laboratory Procedures
Abstract This chapter covers the quality assurance aspects of cfDNA testing on the level of the performing laboratory. Standards, accreditation procedures, and among others European Directives and Regulations for in…
Ethics of Cell-Free DNA-Based Prenatal Testing for Sex Chromosome Aneuploidies and Sex Determination
Abstract As a prenatal screening test, cell-free DNA-based prenatal testing (cfDNA testing) may lead to widening the scope of prenatal screening beyond common autosomal trisomies. Sex chromosome aneuploidies (SCAs) are…
Cell-Free DNA-Based Noninvasive Prenatal Testing and Society
Abstract Discussions on ethical and social issues have accompanied the emergence of prenatal testing and screening since the 1970s. While genetic testing originally allowed families with severe congenital disorders to…
Why Cell-Free DNA-Based Noninvasive Prenatal Testing for Fetal Chromosome Anomalies Is Not Diagnostic
Abstract Cell-free DNA-based noninvasive prenatal testing (NIPT) has emerged as a valuable prenatal test option without intervention risk and capable to detect trisomy 13, 18, 21 and gonosomal aneuploidies with…
Prenatal Screening for Common Aneuploidies Before and After the Introduction of Cell-Free DNA-Based Prenatal Testing
Abstract The cell-free DNA (cfDNA) based prenatal test, often called the noninvasive prenatal test (NIPT) has been developed with a primary focus on prenatal screening for common aneuploidies. In this…
Decisional Support for Expectant Parents
Abstract This chapter will focus on providing decisional support to expectant parents considering cell-free DNA-based noninvasive prenatal testing (cfDNA NIPT) and then through the decisions that arise from the results…
Genome-Wide Cell-Free DNA-Based Prenatal Testing for Rare Autosomal Trisomies and Subchromosomal Abnormalities
Abstract Genome-wide sequencing of cell-free DNA (cfDNA) from maternal plasma enables noninvasive prenatal testing (NIPT) of all 24 chromosomes. A key advantage of the genome-wide approach is its potential to…
