Prenatally Diagnosed Turner Syndrome and Cystic Hygroma: Incidence and Reasons for ReferralsAlpman A. · Cogulu O. · Akgul M. · Ataman Arıkan E. · Durmaz B. · Karaca E. · Sağol S. · Ozkinay C. · Ozkinay F.
Departments of aMedical Genetics, bPediatrics, and cObstetrics and Gynecology, Ege University Faculty of Medicine, Izmir, Turkey
Objective: The objective of this study was to evaluate the incidence and reasons for referrals for prenatally detected Turner syndrome and cystic hygroma cases among prenatal cases performed between 1998 and 2007. Methods: In this study 3,595 amniocentesis, chorionic villus and cordocenthesis materials obtained between 1998 and 2007 were evaluated. Among prenatal cases, 23 Turner syndrome cases were also evaluated according to their referral reasons. Among the indications of prenatal cases, cystic hygroma was evaluated according to karyotype results. Results: Twenty-three cases were Turner Syndrome in which 7 cases were detected to have mosaic pattern. The indications for prenatal diagnosis for the cases were cystic hygroma in 11 cases, missed abortion in 6 cases, advanced maternal age in 5 cases and positive screening test results in 1 case. Among 18 cases having cystic hygroma detected by ultrasonography, 8 cases (44.4%) were found to have a 45,X karyotype, 3 cases were found to be mosaic Turner syndrome (16.7%), 5 cases (27.7%) had normal karyotype, 1 case (5.6%) 47,XX,+13 and 1 case (5.6%) 47,XX,+21. Conclusion: The present study indicates the importance of cystic hygroma in prenatal diagnosis of Turner Syndrome and other aneuploidies.
Asude Alpman, MD, PhD
Ege University Faculty of Medicine
Department of Medical Genetics
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Received: March 12, 2008
Number of Print Pages : 4
Number of Figures : 0, Number of Tables : 2, Number of References : 21
Fetal Diagnosis and Therapy (Clinical Advances and Basic Research)
Vol. 25, No. 1, Year 2009 (Cover Date: August 2009)
Journal Editor: Holzgreve W. (Freiburg), Evans M.I. (New York, N.Y.), Uzan S. (Paris), Michejda M. (Washington, D.C.), Pringle K.C. (Wellington)
ISSN: 1015-3837 (Print), eISSN: 1421-9964 (Online)
For additional information: http://www.karger.com/FDT