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...
Main Authors: | Liang-Ming Lo, Chii-Shinn Shiau, Kuang-Chao Chen, S.W.S. Shaw, Peter Benn |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2019-01-01
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Series: | Taiwanese Journal of Obstetrics & Gynecology |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455918302808 |
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