Background: Advanced maternal age (AMA) is the most frequent indication for amniocentesis in predicting balanced reciprocal translocations, and abnormal ultrasound findings are indications in predicting unbalanced reciprocal translocations; however, to date, no studies have focused on Robertsonian translocations.
Methods: A retrospective review was conducted on 16,749 pregnant women who underwent midtrimester amniocentesis between January 1981 and December 2010. Robertsonian translocations were identified in 39 cases.
Results: The percentage of Robertsonian translocations in all amniocentesis cases was 0.23% (39/16,749); 31 were balanced and eight were unbalanced. De novo abnormality occurred in 17 cases, or in 43.6% of all Robertsonian translocations. The two major indications for amniocentesis with a diagnosis of Robertsonian translocations were AMA (41.0%, n = 16) and a parent with abnormal karyotypes (18.0%, n = 7). The highest percentage of Robertsonian translocations was found in parents with abnormal karyotypes (2.8%, 7/252), but neither of the indications were clearly superior for detecting de novo Robertsonian translocations.
Conclusion: Although AMA is an indication for amniocentesis in approximately two-fifths of cases with Robertsonian translocations, the indication of parent with abnormal karyotypes was more likely to lead to the detection of non-de novo Robertsonian translocations, suggesting that parents with abnormal karyotypes need careful prenatal consultation.
Copyright © 2013. Published by Elsevier B.V.