PRENATAL DIAGNOSIS OF DE NOVO PERICENTRIC INVERSION INV(2)(p11.2z13).

Abstract

Prenatal diagnosis of de novo pericentric inversion inv(2)(p11.2q13): We here report a prenatal case with de novo pericentric inversion inv(2)(p11.2q13). A 20-years-old G1P0 woman was referred for amniocentesis at 17 weeks of gestation, because of a positive second trimester screening test for aneuploidy. A de novo pericentric inversion inv(2)(p11.2q13) was detected during conventional cytogenetic analysis. Array-CGH analysis of the fetus showed no subtle chromosomal imbalances at the breakpoints. Genetic counseling was given to the family and the family decided to continue the pregnancy. To our knowledge, our case is the third prenatally detected de novo case with inv(2)(p11.2q13), and also the first case in which molecular karyotyping analysis were also applied.