Comprehensive Prenatal Genetic Analysis: From Non-Invasive Prenatal Testing to Whole-Exome Sequencing in a High-Risk Pregnancy with Gaucher Disease—A Case Report and Literature Review

Gaucher disease (GD) is the most common lysosomal storage disorder, with an increased prevalence among Ashkenazi Jews. It is an autosomal recessive metabolic disorder caused by pathogenic variants in the GBA1 gene. In this study, we present the case of a 35-year-old patient who initially underwent comprehensive non-invasive prenatal testing (NIPT), which included monogenic disorder screening. The result indicated a very high risk for GD in the fetus. Subsequently, the patient opted for a confirmatory prenatal diagnostic test—prenatal Whole-Exome Sequencing (WES). The results ruled out the diagnosis of GD in the fetus and excluded other genetic disorders included in the panel. This case highlights the importance of confirmatory prenatal testing after a high-risk NIPT and underscores the value of a comprehensive approach, such as WES, in prenatal genetic diagnostics.