Balkan Journal of Medical Genetics

THE INCIDENCE AND TYPE OF CHROMOSOMAL TRANSLOCATIONS FROM PRENATAL DIAGNOSIS OF 3800 PATIENTS IN THE REPUBLIC OF MACEDONIA
Vasilevska M1,*, Ivanovska E1, Kubelka Sabit K1, Sukarova-Angelovska E2, Dimeska G3
*Corresponding Author: Marinela Vasilevska, M.Sc., Department of Diagnostic Laboratories, Clinical Hospital Acibadem-Sistine, Skupi 5A, 1000 Skopje, Republic of Macedonia; Tel.: +389-2-3099-511; Fax: +389-2- 3099-599; vasilevskam@acibademsistina.com.mk
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MATERIALS AND METHODS

During the period from 2002 to 2012, 3800 prenatal samples [2556 amniotic fluids and 1244 chorionic villus samples (CVS)] were referred to the Department of Diagnostic Laboratories (Cytogenetic Laboratory), Clinical Hospital Acibadem Sistina, Skopje, Republic of Macedonia (ROM). Referral reasons for prenatal diagnosis were advanced maternal age, abnormal ultrasound findings, history of chromosomal abnormalities, positive maternal serum triple test (Table 1). Amniotic fluid samples and CVS were cultivated in Amniogrow complete medium (Cytogen, Sinn, Germany). Peripheral blood samples of the parents (prenatal detection of structural chromosomal abnormality) were cultivated in Lymphogrow medium (Cytogen). At least 15 metaphases were analyzed for each case and 10 metaphases were karyotyped using Bandview software from Applied Spectral Imaging (Carlsbad, CA, USA). The results were reported according to the recommendations of the International System for Chromosome Nomenclature 2009 [3]. RESULTS During 10 years prenatal diagnosis and 3800 samples provided by amniocentesis and chorion biopsy, we detected seven Robertsonian translocations, eight autosomal reciprocal translocations and one sex chromosome translocation in balanced and unbalanced states (Table 2). Referral reasons for prenatal diagnosis for all cases are represented in Table 1. An overall frequency of all Robertsonian transloca- tions was 0.18%; all four (13;14) were in balanced state, three of which originated from maternal Robertonian translocations and only one case of paternal origin. Maternal carriers of this Robertsonian translocation did not have reproductive problems or pregnancies with unbalanced rob(13;14) translocations. The translocation with paternal origin resulted from oligoastenoteratozoospermia in the paternal carrier of rob(13;14) and conception was achieved after applying techniques of assisted reproduction. There were two rob(14;21) translocations detected in an unbalanced state, both of them of maternal origin. In one of the patients with familial rob(14;21) the microscopic analysis of the curetted placental tissue showed abnormalities that suggested chromosomal abnormalities consistent with trisomy. The chorionic villi had irregular villus contours (shapes) with mucinous or edematous stroma (Figure 1). The villous blood vessels were diminished and nucleated erythrocytes were absent. The trophoblast on the villous surface showed trophoblastic proliferations in the form of sprouts (Figure 2).There is one case with de novo 46,XY, +13,der(13;13) with detected ultrasound abnormalities. The autopsy of the fetus showed multiple anomalies. The fetus had cheilognathopalatoshisis, hexadactily on both toes. The visceral organs did not show any abnormalities. These findings were consistent with a Patau’s syndrome phenotype. The frequency of autosomal reciprocal translocations was 0.21% (eight cases). Five conceptions with reciprocal translocations of autosome chromosomes in a balanced state (paternal origin) were achieved normally. There was one double translocation 46,XX t(1;21)t(7;16) with normal ultrasound parameters from maternal origin, mother was the de novo carrier for both translocations, without phenotypic abnormalities (Figure 3). There was only one de novo 45,XY,t(18;21)(p11;q11),18p- case associated with ultrasound abnormalities detected after a pregnancy was achieved with the assistance of IVF. One case, 45,X, t(2;21)(p10;p10) of unknown origin, was represented with ultrasound hydrops fetalis that was associated with Turner Syndrome phenotype. There was one de novo case of apparently balanced sex chromosome translocation [46,X,t(X;10) (p11.23; q22.3)] in a single pregnancy achieved after transfer of three thawed embryos (Figure 4). The karyotypes of the parents were normal.

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