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

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 c...

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Bibliographic Details
Main Authors: Ileana-Delia Săbău, Laurențiu-Camil Bohîlțea, Mihaela Țurcan, Adelina Silvana Gheorghe, Maria Riza, Mihai Mitroi, Antoanela Curici, Iuliana Ceaușu
Format: Article
Language:English
Published: MDPI AG 2025-04-01
Series:Journal of Mind and Medical Sciences
Subjects:
prenatal genetic testing
non-invasive prenatal testing (NIPT)
whole-exome sequencing (WES)
fetal anomalies
chromosomal microarray analysis (CMA)
cell-free fetal DNA
Online Access:https://www.mdpi.com/2392-7674/12/1/25
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