How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies.

ABSTRACT: Exome sequencing (ES) enhanced the diagnostic yield of genetic testing, but has also increased the possibility of uncertain findings. Prenatal ES is increasingly being offered after a fetal abnormality is detected through ultrasound. It is important to know how to handle uncertainty in this particularly stressful period. This systematic review aimed to provide a comprehensive overview of guidelines available for addressing uncertainty related to prenatal chromosomal microarray (CMA) and ES. Ten uncertainty types associated with prenatal ES and CMA were identified and defined by an international multidisciplinary team. Medline (all) and Embase were systematically searched. Laboratory scientists, clinical geneticists, psychologists, and a fetal medicine specialist screened the papers and per

SUBMITTER: Klapwijk JE 

PROVIDER: S-EPMC8596644 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature