Karaoğuz, Meral YirmibeşBal, FatmaErcelen, N. ÖzturkErgün, Mehmet AliGökçen, A. BalcıBiri, Aydan AsyalıUrman, B.Gültomruk, M.Menevse, S.2021-10-202021-10-202006Karaoğuz, M. Y. vd. (2006). ''Cytogenetic results of amniocentesis materials: Incidence of abnormal karyotypes in the Turkish collaborative study''. Genetic Counseling, 17(2), 219-230.1015-8146http://hdl.handle.net/11452/22420Cytogenetic results of amniocentesis materials: incidence of abnormal karyotypes in the Turkish collaborative study: The experience on prenatal chromosome diagnosis of four Turkish centers participating in a collaborative study on 6041 genetic amniocentesis performed during a 4-8 years period were reviewed. 5887 (97.5%) patients had strong clinical indications for prenatal chromosome studies and 154 (2.5%) were referred because of maternal anxiety and a bad history of previous gestations. The main indication groups were: advanced maternal age (3197 cases), positive serum screening (2011 cases), ultrasound-identified anomaly (492 cases), previous fetus/child with chromosomal aberrations (103 cases), a history of a previous abnormal and / or mentally handicapped child (70 cases) and a parental chromosome rearrangement (14 cases). The average maternal age was 33.9 years and average gestational age was 18 weeks. A total of 179 affected fetuses were detected in this collaborative study (3%) of which 133 were unbalanced (74.3%). Among the 124 (69%) numerical aberrations, 102 (82.3%) were autosomal aneuploidies, 20 (16.1%) were gonosomal aneuploidies and 2 (1.6%) were poliploidies. Among the 55 (31%) structural aberrations, balanced translocation was the most common (63.6%) and I 1 cases of inversion, four cases of unbalanced translocation, two cases of marker chromosome and three cases of other abnormalities were found. The overall culture success rate was 99.7%. Pregnancy termination that is permitted by legal authorities was accepted by 94.7% (126/133) with parents at unbalanced cytogenetic result announcement.eninfo:eu-repo/semantics/closedAccessBiotechnology & applied microbiologyGenetics & heredityMedical ethicsResearch & experimental medicinePrenatal diagnosisIndicationsAneuploidiesAmniocentesisAberrationsCanadaDisordersNondisjunctionDown-syndromeChromosome analysisUnconjugated estriolGenetic amniocentesisPrenatal-diagnosisSerum alpha-fetoproteinTurkeyTrisomyTissue and organ harvestingRisk factorsPrenatal diagnosisPregnancyMiddle agedKaryotypingHumansGestational AgeGene expressionFetal diseasesFemaleCytogeneticsChromosome aberrationsCatchment area (health)AneuploidyAmniocentesisAdultAdolescentArticle0002402321000112-s2.0-3374828313021923017216970041Biotechnology & applied microbiologyGenetics & heredityMedical ethicsMedicine, research & experimentalChorion Villus Sampling; Amniocentesis; Maternal AgeSex chromosomePolyploidyMajor clinical studyKaryotypeIncidenceHumanFemaleCytogeneticsChromosome rearrangementAutosome aberrationArticleAneuploidyAmniocentesisAdultAdolescent