Prenatal diagnosis of pericentric inversion homozygosity for chromosome 9

Abstract

Fourteen years ago, Cotter and colleagues (1997), fi rst reported the clinical outcome in two prenatally diagnosed cases of homozygosity for pericentric inversion of chromosome 9. Th e next paper discussing possible clinical implications of homologous pericentric inversion 9 on the fetus, was published by Sharony and co-authors in 2007. Th ese two papers represent the only published data concerning pregnancy outcome in such cases. Because of insuffi cient available data, it is very hard to give a proper evaluation of the possible impact of the presence of homologues of inverted chromosome 9 on phenotypical fetal appearance during pregnancy. Here, we present a prenatally diagnosed case of an inv(9) (p11q13) homozygous male fetus in a 36-year-old Caucasian primigravida, who underwent amniocentesis at 16 weeks ’ gestation because of advanced maternal age. Both parents are heterozygote carriers and are not consanguineous. A detailed ultrasonography and heart echocardiography showed normal fetal anatomy. Th e parents were counselled based on normal ultrasonographic fetal measurements, but the precise information was hard to give because of the very few reported cases. Th e couple decided to continue the pregnancy. Serial fetal ultrasonography showed