Invasive procedures for prenatal diagnosis: Any future left?

Invasive procedures for prenatal diagnosis: Any future left? Article

Simpson, JL. (2012). Invasive procedures for prenatal diagnosis: Any future left? . 26(5), 625-638. 10.1016/j.bpobgyn.2012.05.007

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. © 2012 Elsevier Ltd. All rights reserved.