Confined placental mosaicism and genomic imprinting

The concept of confined placental mosaicism and its relationship to genomic imprinting and uniparental disomy is explained in this chapter. Clinically significant imprinting syndromes, such as Prader–Willi syndrome, Angelman syndrome, Beckwith–Wiedemann syndrome, Silver–Russell syndrome and transient neonatal diabetes mellitus, potentially associated with confined placental mosaicism are described and referenced. Non-Mendelian inheritance of recessive mutations in uniparental disomy is illustrated. Both skewed X chromosome inactivation and isolated gonadal mosaicism are outlined as newly recognized consequences of post-zygotic chromosomal mutation and confined placental mosaicism. Clinical management of pregnancies with confined placental mosaicism is proposed as well as future research directions in the field of confined placental mosaicism and its consequences.