양수천자에서 진단된 구조적 염색체 이상의 산전 유전학적 분석

Information concerning the prognosis for fetus diagnosed prenatally with either an apparent de novo structural rearrangement or a parental structural rearrangement is limited. From September 2004 to December 2010, structural rearrangements were diagnosed by amniocentesis in 73 cases at the Institute of Reproductive Medicine and Population, Seoul National University The most frequent indication for cases with structural rearrangements was advanced maternal age (48.0%), followed by abnormal maternal serum marker positive (19.2%), IVF & ICSI (13,7%), and abnormal ultrasonographic findings (10.9%). Of the 73 cases, 57 had parental inherited inversion, 15 cases had translocation, and one had de novo isochromosome. Additionally, abnormal ultrasonographic findings were presented in three of the 15 de novo translocation cases and the one de novo isochromosome case. Unbalanced translocations were detected in one de novo case and the remaining two cases were derived from the unbalanced chromosome segregation from female carriers with balanced reciprocal translocations, Parental cytogenetic analysis is necessary to diagnose the fetus with either inherited or de novo structural rearrangements. These cytogenetic outcomes may be helpful for determining the causes of fetus abnormality and to provide valuable information for pregnancy management and genetic counseling.