Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling

Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling

Sex chromosome aneuploidies (SCAs) collectively occur in 1 in 500 livebirths, and diagnoses in the neonatal period are increasing with advancements in prenatal and early genetic testing. Inevitably, SCA will be identified on either routine prenatal or newborn screening in the near future. Tetrasomy...

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Bibliographic Details
Main Authors: Susan Howell, Shanlee M. Davis, Billie Carstens, Mary Haag, Judith L. Ross, Nicole R. Tartaglia
Format: Article
Language:English
Published: MDPI AG 2024-07-01
Series:International Journal of Neonatal Screening
Subjects:
newborn
sex chromosome aneuploidy
prenatal screening
cfDNA
discordance
genetic counseling
Online Access:https://www.mdpi.com/2409-515X/10/3/48

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https://www.mdpi.com/2409-515X/10/3/48

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