Indication and diagnostic method selection for invasive prenatal genetic testing – review of the literature and conclusions of the Austrian consensus conference on prenatal genetic testing

The increasing availability of chromosomal microarray (CMA), exome and genome analysis for prenatal diagnostic testing, together with concerns of potential legal consequences in cases of missed diagnoses, has contributed to substantial uncertainty in prenatal medicine. To support consistent and clinically meaningful use of genetic diagnostics in Austria, the working group for prenatal genetic diagnostics reviewed existing guidelines and recommendations and agreed on a consensus addressing eight key questions arising from clinical practice. Given the limited predictive value of genomic findings in structurally normal fetuses, the working group recommends a strictly phenotype-driven diagnostic approach with CMA, exome and genome analysis to be systematically offered in the presence of fetal pathologies.