Abstract Noninvasive prenatal testing (NIPT) using cell-free (cf) DNA in maternal blood has the potential to dramatically alter the way prenatal screening and diagnosis for Down’s syndrome is delivered. In…
Abstract Current noninvasive prenatal testing (NIPT) based on cell-free fetal DNA extracted from maternal plasma, has brought about a huge change in the field of prenatal testing, even though it…
Abstract Prenatal whole exome sequencing (WES) in the fetus with isolated or multiple structural anomalies has increased potential to identify a genetic diagnosis above standard genetic testing methods. Fetal DNA…
Abstract A clinically effective screening program for the major placenta-related complications of pregnancy (preeclampsia, fetal growth restriction, and abruption) is an area of unmet clinical need. A major hurdle to…
Abstract Since the introduction of techniques to diagnose genetic diseases in the unborn child, the main application has been to test for severe, untreatable conditions as early in the pregnancy…
Abstract External Quality Assessment (EQA) is recognized by international standards (ISO), and EQA performance is used by accreditation bodies as a tangible measure of the quality of a laboratory’s performance….
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…
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…
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…
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…
