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

• Main Authors: Susan Howell (Author), Shanlee M. Davis (Author), Billie Carstens (Author), Mary Haag (Author), Judith L. Ross (Author), Nicole R. Tartaglia (Author)
• פורמט: ספר
• יצא לאור: MDPI AG, 2024-07-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

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...