Prenatal diagnosis of single-gene disorders

Genetic disease can occur due to imbalance of whole chromosomes, smaller chromosome microdeletions or duplications, or at the single-gene level where even a single base change can cause significant disease. This review focuses on the methods available to achieve genetic diagnosis of a fetus in pregnancy, both in the context of a family history of a known disease-causing gene variant and where there is clinical suspicion of a genetic disorder based on ultrasound findings. The indications for rapid trio whole exome sequencing in the prenatal setting will be considered.
Source: Obstetrics, Gynaecology and Reproductive Medicine - Category: OBGYN Authors: Tags: Case-based learning Source Type: research