title: 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.
authors: March of Dimes Foundation, White Plains, NY 10605, United States. jsimpson@marchofdimes.com
authors: Joe Leigh
authors: JL
authors: Simpson
mesh_terms: D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D030342:Genetic Diseases, Inborn / Q000175:diagnosis; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D011247:Pregnancy; D012680:Sensitivity and Specificity