Article

The Importance of Prenatal WES Testing in the Romanian Population

2023-09-19

Abstract excerpt

<h4>Objective: </h4> Our objective was to observe the benefits and limitations of WES (Whole Exome Sequencing) in the prenatal setting, in the Romanian population. The scope was to observe the diagnostic yield in comparison to molecular karyotyping testing, which had negative results, as well as a case of consanguinity. Methods The first criteria was selecting pregnancies with abnormal ultrasound findings. These f...

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Literature Corpus work: cbc6adcb-202e-5031-a940-40704094a3ab
DOI: 10.20944/preprints202309.1240.v1

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