Fetal exome sequencing: yield and limitations in a single tertiary center

What is it about?

Exome sequencing can provide a molecular diagnosis in cases where conventional cytogenetic and chromosome microarray analysis are negative. Decreasing costs and turnaround time enable utilization of this technology in the prenatal setting. This study explores the referral indications and diagnostic outcomes of fetal exomes in a single tertiary center situated in a unique geographical and social environment, where consanguinity increases diagnostic yield and the law allows for late terminations of severely affected fetuses. We explore diagnostic rates and pregnancy outcomes with respect to referral indications, parental consanguinity and study design. Selected case reports highlighting genetic and genomic lessons are discussed in detail

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