Overview

• Scientists from deCODE genetics analyzed 467 pregnancy loss samples, identifying de novo mutations in essential genomic sequences as a significant contributor to miscarriage.
• The study, published in Nature, estimates that approximately one in 136 pregnancies end due to these mutations, affecting millions globally each year.
• Pathogenic single nucleotide variants and loss-of-function mutations were found enriched nearly threefold in lost pregnancies compared to a control group of over 7,700 adult trios.
• Euploid pregnancy losses, which have normal chromosome counts, showed a high prevalence of gene-level defects, independent of chromosomal abnormalities.
• Findings highlight recurrence risks for couples inheriting biallelic defective gene copies, which can be mitigated through targeted IVF genetic selection.