Screening for 22q11.2 deletion syndrome by two non-invasive prenatal testing methodologies: A case with discordant results

Objective: Non-invasive prenatal testing (NIPT) through the analysis of cell-free DNA in maternal plasma has bee expanded to include clinically-relevant microdeletions such as the 22q11.2 deletion syndrome (22q11.2DS). Case report: We present a pregnancy where the fetus was affected with 22q11.2DS b...

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Main Authors: Liang-Ming Lo (Author), Chii-Shinn Shiau (Author), Kuang-Chao Chen (Author), S.W.S. Shaw (Author), Peter Benn (Author)
Format: Book
Published: Elsevier, 2019-01-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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