Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria.
Marie Cosette GabrielStephanie M RiceJennifer L SloanMatthew H MossayebiCharles P VendittiHuda B Al-KouatlyPublished in: Molecular genetics & genomic medicine (2021)
This case highlights how expanded carrier screening adds complexity to reproductive decision-making. Stronger guidelines and additional research are needed to direct and evaluate the timing, composition, and implementation of ECS panels.