Application of whole-exome sequencing technology in clarifying 269 cases of fetal skeletal system disorders

Objective: This study aimed to evaluate the enhancement of whole-exome sequencing technology for the detection of fetal skeletal dysplasias (SDs) in pregnant women with suspected fetal skeletal system abnormalities and explore its potential for genetic mapping. Methods Between February 2021 and January 2023, we performed whole-exome sequencing on 269 pregnant women with prenatal ultrasound indications of fetal skeletal system abnormalities. We collected genetic reports and analyzed the results. Results Whole-exome sequencing demonstrated a 26.41% (14/53) increase in detection rates for fetal skeletal abnormalities initially detected by ultrasound. It also facilitated the identification of causative genes and provided a deeper understanding of the genetic characteristics compared to traditional methods such as karyotype analysis and chromosome microarray analysis (CMA). Conclusion In cases where traditional diagnostic techniques, such as karyotype analysis combined with CMA, fail to determine the etiology of fetal ultrasound-indicated skeletal system abnormalities, whole-exome sequencing offers a novel diagnostic approach. This technology has the potential to provide patients with valuable diagnostic insights, assisting in clarifying the underlying causes of these abnormalities and guiding appropriate prenatal care decisions.