Invasive procedures for prenatal diagnosis: any future left?

Abstract

Invasive diagnostic procedures (e.g chorionic villus sampling and amniocentesis) remain essential to the complete prenatal genetic diagnosis armamentarium. Both procedures are relatively safe in experienced hands, carrying procedure-related losses of about 1 in 400. Sensitivity of aneuploidy detection with either invasive test is near 100%, 10-15% higher than non-invasive protocols that use maternal serum analyte and fetal nuchal translucency screening. Application of cell-free fetal DNA for aneuploidy screening may or may not narrow this difference. Irrespective, invasive procedures are currently required for application of array comparative genome hybridisation.