Prenatal Diagnosis of Recurrent Trisomy 18 Syndrome / 대한진단검사의학회지

ABSTRACT

Though data on the recurrent risk after the birth of one fetus or infant with trisomy 18 is sparse, it has been presumed that the recurrence risk would be lower than the 1% for full trisomy 21 syndrome cases. We report a rare recurrent trisomy 18 found in amniocentesis in a family in which both parents had normal blood karyotype. Molecular analysis was undertaken in the second episode of trisomy 18 and a maternal meiosis II nondisjunction error was diagnosed.