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 DOI Creative Commons

Ileana-Delia Săbău,

Laurentiu Camil Bohîlțea,

Mihaela Țurcan

et al.

Journal of Mind and Medical Sciences, Journal Year: 2025, Volume and Issue: 12(1), P. 25 - 25

Published: April 29, 2025

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

Language: Английский

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 DOI Creative Commons

Ileana-Delia Săbău,

Laurentiu Camil Bohîlțea,

Mihaela Țurcan

et al.

Journal of Mind and Medical Sciences, Journal Year: 2025, Volume and Issue: 12(1), P. 25 - 25

Published: April 29, 2025

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

Language: Английский

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