Case Reports
Mosaic Trisomy 16 in a Preterm Newborn with Intrauterine Growth Restriction, Hypoglycemia and Atrial Tachycardia
Author(s):
Hussein Khalifeh, Lea Chokr*, Khalid Yunis and Fatima Charafeddine
Trisomy 16, responsible for 1%-2% of first trimester losses, poses diagnostic dilemmas in reproductive medicine. While total trisomy 16 is typically lethal, mosaic trisomy 16 cases exhibit diverse phenotypes, often featuring intrauterine growth retardation and cardiac anomalies. Postnatal survival with high levels of mosaic trisomy 16 is rare, with most affected pregnancies ending in spontaneous abortion between 8 and 15 weeks of gestation. However, recent data suggest that select prenatally diagnosed mosaic trisomy 16 patients manifest a mild phenotype and favorable outcomes. Confined placental mosaicism, commonly detected during chorionic villus sampling, emphasizes the complicated nature of this condition. We present a case of mosaic trisomy 16 in a neonate with atrial tachycardia, emphasizing the complexities and treatment strategies in pediatric care. Notably, our management appr.. Read More»
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