Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing

This study introduces noninvasive prenatal screening using deep trio exome sequencing (DES) to detect fetal genetic abnormalities (SNVs, indels, CNVs, aneuploidies) from maternal plasma cell free DNA. In 36 high risk pregnancies (nuchal translucency ≥5 mm or fetal anomalies), DES achieved 100% concordance with invasive diagnostic methods, identifying 11 pathogenic variants (e.g., RIT1, FGFR3 mutations) and structural anomalies (trisomies, monosomy X). With 95.12% sensitivity

This study introduces noninvasive prenatal screening using deep trio exome sequencing (DES) to detect fetal genetic abnormalities (SNVs, indels, CNVs, aneuploidies) from maternal plasma cell free DNA. In 36 high risk pregnancies (nuchal translucency ≥5 mm or fetal anomalies), DES achieved 100% concordance with invasive diagnostic methods, identifying 11 pathogenic variants (e.g., RIT1, FGFR3 mutations) and structural anomalies (trisomies, monosomy X). With 95.12% sensitivity See more See less