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Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot study.

Prenatal diagnosis - 1 Apr 2024

Michaelson-Cohen Rachel, Salzer Liat Sheelo, Brabbing-Goldstein Dana, Yaron Yuval, Reches Adi, Yonath Hagith, Regev Miriam, Shani Hagit, Altarescu Gheona, Segel Reeval, Sukenik-Halevy Rivka, Daum Hagit, Harel Tamar, Meiner Vardiella, Basel-Salmon Lina, Sagi-Dain Lena, Maya Idit

Abstract excerpt

OBJECTIVE: Significant discrepancy exists between laboratories in classification and reporting of copy number variants (CNVs). Studies exploring factors affecting prenatal CNV management are rare. Our "virtual fetus" pilot study examines these factors. METHOD: Ten prenatally diagnosed CNVs of uncertain significance (VUS) > 1Mb, encompassing OMIM-morbid genes, inherited from healthy parents, were classified by 15...

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PMID: 38353311
DOI: 10.1002/pd.6535

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