Mosaic Trisomy 16 in a Preterm Newborn with Intrauterine Growth
Restriction, Hypoglycemia and Atrial Tachycardia
Abstract
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, underscores the intricate
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 approach
involved the novel use of Ivabradine alongside propranolol. This case
highlights the imperative for ongoing research and collaborative efforts
to deepen our understanding and tailor care for the diverse clinical
spectrum of mosaic trisomy 16, ensuring comprehensive monitoring and
support for affected individuals