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Prenatal Cardiology

Editor-in-Chief: Respondek-Liberska, Maria

Managing Editor: Slodki, Maciej / Lami, Yeo

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Double aneuploidy with karyotype 48,XXY,+18 in first trimester fetus - case report

Lech Dudarewicz / Urszula Wysocka / Lucjusz Jakubowski
Published Online: 2015-12-30 | DOI: https://doi.org/10.12847/06144


Double anueploidy, involving both trisomy 18 and Klinefelter syndrome at the same time, is a rare event, in which the features of Edwards syndrome dominate the clinical picture. We describe a patient, who was diagnosed in the 8th gestational week with a seemingly normal intrauterine pregnancy with “chorionic bump”. In the 12th week the following abnormalities were diagnosed by ultrasound: Increased nuchal translucency (4.7 mm), increased anteroposterior diameter of the fourth ventricle and increased diameter of the third ventricle of the brain, mesocardia and cardiomegaly. The CVS karyotype revealed 48,XXY,+18 karyotype. In our opinion, the increased anteroposterior diameter of the fourth ventricle of the brain in this fetus was probably an early manifestation of the Dandy-Walker malformation (unproven because of early pregnancy termination), which is typical of Edwards syndrome fetuses. We consider the increased anteroposterior diameter of the fourth ventricle of the brain in the first trimester fetus as an indication for fetal karyotyping and further detailed imaging studies.

Keywords: aneuploidy; first trimester; fourth ventricle


  • 1. Bocian E. Prenatalna diagnostyka cytogenetyczna chorób genetycznych. Klasyczne metody i zasady oceny kariotypu. Med. Sci Rev - Genetyka 2004;1:27-33.Google Scholar

  • 2. Cnota W, Grolik B, Szołtysik-Szot M, Bloch R (et al.). Przezbrzuszna biopsja kosmówki w prenatalnej diagnostyce zaburzeń chromosomowych - doświadczenia własne. Ginekol Pol 2013; 84: 412-417.Google Scholar

  • 3. Gnyś-Wiercioch A, Bloch R, Grolik B (et al.). Analiza cytogenetyczna biopsji kosmówki - wady i zalety. Ginekol Pol 2012; 83:368-372.Google Scholar

  • 4. Weeraesekara K P, Anjana Sirisena A B. Coexisting Edwards syndrome and Klinefelter syndrome. Sri Lanka Journal of Child Health 2013;42(3):170-172.Google Scholar

  • 5. Jia-Woei Hou, MD, PhD, Chang Gung. Double Aneuploidy: Trisomy 18 and XXY in a Boy. Med J Vol. 29, No. 4Google Scholar

  • 6. Zhang L, Zhang X, Liang M, Ren M. Prenatal cytogenetic diagnosis study of 2782 cases of high-risk pregnant women. Chi Med J 2010;123(4):423-430.Google Scholar

  • 7. Reddy KS. Double trisomy in spontaneous abortion. Human Genetics 1997;101:339-345.Google Scholar

  • 8. Diego-Alvarez D, Ramos- Corrales C, Garcia-Hoyos M, Bustamante-Aragones A, Cantalapiedra D, Diaz-Recasens J, Vallespin- Garcia E, Ayuso C, Lorda-Sanchez I. Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach. Hum Reprod 2006;21(4):958-966.CrossrefGoogle Scholar

  • 9. Harris RD1, Couto C, Karpovsky C, Porter MM, Ouhilal S. The chorionic bump: a first-trimester pregnancy sonographic finding associated with a guarded prognosis. J Ultrasound Med 2006;25(6):757-763.Google Scholar

  • 10. Sana Y, Appiah A, Davison A, Nicolaides KH, Johns J, Ross JA. Clinical significance of first-trimester chorionic bumps: a matched case-control study. Ultrasound Obstet Gynecol 2013;42(5):585-589.CrossrefGoogle Scholar

  • 11. Chaoui R, Benoit B, Mitkowska-Wozniak H, Heling KS, Nicolaides KH. Assessment of intracranial translucency (IT) in the detection of spina bifida at the 11-13-week scan. Ultrasound Obstet Gynecol 2009;34:249-252.Web of ScienceCrossrefGoogle Scholar

  • 12. Bornstein E, Goncalves Rodríguez JL, Álvarez Pavón EC, Quiroga H, Or D, Divon MY. First-trimester sonographic findings associated with a Dandy-Walker malformation and inferior vermian hypoplasia. J Ultrasound Med 2013;32(10):1863-1868.Web of ScienceGoogle Scholar

  • 13. Harper T, Fordham LA, Wolfe HM. The fetal dandy walker complex: associated anomalies, perinatal outcome and postnatal imaging.Fetal Diagn Ther 2007;22(4):277-281. CrossrefWeb of ScienceGoogle Scholar

About the article

Received: 2014-05-04

Accepted: 2014-06-27

Published Online: 2015-12-30

Published in Print: 2014-06-01

Citation Information: Prenatal Cardiology, Volume 4, Issue 2, Pages 24–28, ISSN (Online) 2353-8201, DOI: https://doi.org/10.12847/06144.

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© 2016. This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License. BY-NC-ND 4.0

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