Rom J Morphol Embryol 2013, 54(2):377–383 ISSN (print) 1220–0522 ISSN (on-line) 2066–8279 ORIGINAL PAPER Structural chromosomal anomalies detected by prenatal genetic diagnosis: our experience SIMONA FARCAŞ 1) , C. D. CRIŞAN 2) , NICOLETA ANDREESCU 1) , MONICA STOIAN 1) , A. G. M. MOTOC 3) 1) Department of Microscopic Morphology, Division of Genetics 2) Department of Obstetrics and Gynecology 3) Department of Anatomy and Embryology “Victor Babeş” University of Medicine and Pharmacy, Timisoara Abstract The prenatal diagnosis is currently widely spread and facilitates the acquiring of important genetic information about the fetus by a rate extremely accelerate and considered without precedent. In this paper, we like to present our experience concerning the genetic diagnosis and counseling offered for pregnancies in which a structural chromosomal aberration was found. The study group is formed by 528 prenatal samples of amniotic fluid and chorionic villi, received by our laboratory from 2006 through October 2012 for cytogenetic diagnosis. The appropriate genetic investigation was selected based on the indications for prenatal diagnosis. The cases with structural chromosomal anomalies and polymorphic variants were analyzed as regard to the maternal age, gestational age, referral indications and type of chromosomal anomaly found. A total number of 21 structural chromosomal anomalies and polymorphic variants were identified in the study group. Out of 21 structural chromosomal anomalies and polymorphic variants, six deletions and microdeletions, four situations with abnormal long “p” arm of acrocentric chromosomes, two duplications, two reciprocal translocations, two inversions, two additions, one Robertsonian translocation associating trisomy 13, one 9q heteromorphism and one complex chromosome rearrangement were noticed. To the best of our knowledge, this is the first Romanian study in which the diagnostic strategies and the management of the prenatal cases with structural rearrangements are presented. The data provided about the diagnosis strategy and the management of the prenatal cases with structural chromosomal anomalies represents a useful tool in genetic counseling of pregnancies diagnosed with rare structural chromosomal anomalies. Keywords: genetic prenatal diagnosis, structural chromosomal anomalies, genetic counseling.  Introduction The prenatal diagnosis is currently widely spread and facilitates the acquiring of important genetic information about the fetus by a rate extremely accelerate and considered without precedent [1]. Since 70s when it was first used, until now new techniques for screening and diagnosis were introduced. Using the new screening tests that can select the pregnancies at risk, many syndromes can be identified before birth by performing prenatal diagnosis. Currently, new techniques such as microarray CGH are used in clinical studies and different strategies were elaborated for rapid and efficient prenatal diagnosis [2–4]. In prenatal diagnosis, the new molecular techniques can offer a rapid result for a selected range of chromosomal aberrations, but the cytogenetic analysis still remains the gold standard. By using conventional cytogenetic studies, not only the major aneuploidies can be identified, but also the structural rearrangements [5]. The conventional cytogenetic investigations, even with a poor banding resolution, are required for the validations of the results after the identification of a specific chromosomal anomaly by molecular analyses. Whether for the numerical chromosomal anomalies there are many techniques available, the structural chromosomal aberrations, rarely found, can raise different problems for a correct diagnosis and an accurate genetic counseling. Regarding the structural chromosomal anomalies the most important aspect is about the viability of the fetus, depending on the chromosome(s) involved, the type of anomaly and the size of the defect [6]. For these cases, in some situations, additional investigations should be performed, as a more comprehensive molecular characterization is essential. The genetic investigations must be associated with ultrasound evaluation in order to have a complete tableau of the case [7]. The next questions raised are about the risk for a future pregnancy and the couple’s reproductive alternatives available in order to have a healthy child. In this paper, we like to present our experience concerning the genetic diagnosis and counseling offered for pregnancies in which a structural chromosomal aberration was found.  Materials and Methods The study group is formed by the prenatal samples of amniotic fluid and chorionic villi, received by our laboratory from 2006 through October 2012 for R J M E Romanian Journal of Morphology & Embryology http://www.rjme.ro/