ANASTASAKHS

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1 6ﾑ8. ﾞ ｹ0, apple 07020ｷ3076ｧ9080ｸ7, ｹ0, 6ｾ ｧ902090ｹ0, ﾞ. ﾞ ｧ80ｹ0 ﾞ ｯ ｸ ｧ8 & 縺0ｸ ｧ8 ﾒ ｧ apple ｧ9080ｸ7 ﾞ , ｧ ﾞ ﾒ0ｸ fi 6ｦ009030ｷ ｸ fi 04030ｷ ｷ fi 閨 ﾞ0309fi ｹ apple ｹ0 ﾞ ｧ9 : 6ﾑ8. ﾞ ｹ0 ﾒ080ｸ ｸ ｸ7 14, 09070ｷ ｧ , ﾞ036ｧ807 [email protected] ﾒ 閨 ｧ ｧ ﾒ ｸ fi 6ｦ009030ｷ ｧ9ｨB ｷ ｷ 閨0ｹ0 070ｷ ｧ9000ｹ0, 040ｸ 閨 ｦ Turner. ﾇ ｷ ｸ7 020ｸ ｦ0 0ｸ ｹ0 00apple ｧ ｧ applefi 0208 apple ｧ ｹ ｸ ｦ007090ｹ0, 0208 閨 ｸ708 apple03 鐶pple ｸ ｹ0 apple 閨0ｹ ｧ9000ｹ apple 閨 ｹ ｸ7fi020ｸ7apple080ｸ7. fi090ｷ ｹ fi ｹ0 apple03fi09070ｷ304090ｹ0 09 apple ｧ8 040ｸ ｸ ｸ ｧ8 apple ｧ ｧ9. 縺 閨09020ｸ apple 閨 ｷ307 apple , ｧ8 00 0ｹ0 apple ｧ 閨 fi ｧ ｹ ｦ00ｷ ｸ fi 6ｦ009030ｷ300. 閨 ｹ : 020ｸ fi 6ｦ009030ｷ300, ｸ7fi020ｸ7apple080ｹ0, ｧ ﾑ ｷ3096ｧ ｹ0 0ｸ707 02fi ｹ0 apple080ｸ7 00 0ｹ0 apple 03 閨 ｦ ｸ7apple ｧ9, 006ｧ ｸ707 02fi 閨 ｸ apple 閨 ｹ ｹ0 0ｸ7086ｧ80ｹ ｸ ｧ803080ｸ7 applefi 閨 ｸ7 apple ｸ ｧ807080ｸ applefi 02060ｹ0 040ｸ70407fi ｹ0 070ｷ ｧ9000ｹ ｹ0 apple ｧ80ｹ0 0ｸ7026ｧ80ｹ0 006ｧ ｸ fi 6ｦ009030ｷ fi ｷ ｧ9 apple080ｸ apple6ｧ9ｨB ｸ7076ｧ8030ｷ30ｹ ｸ7-04 閨 ｸ ｦ0080ｸ ｧ ｸ707 02fi ｷ ｧ9 applefi ｧ80309, ｧ80309, 6ｧ8 026ｦ applefi ｸ70ｹ ｦ00ｹ0. ﾌ fi03080ｹ0 006ｦ009030ｷ ｧ ｸ7 036ｧ80ｹ0 fi ｹ apple03fi ｷ ｧ ｸ ｦ0 040ｸ704026ｧ ｹ0 apple080ｸ ｧ9ｨB applefi ｧ ｧ8 apple apple03 閨0ｹ0 026ｦ ｹ0 00 閨 ｸ70ｹ

2 13 ﾒ0ｸ fi 6ｦ009030ｷ ｸ fi 04030ｷ ｷ fi 閨 ﾞ0309fi ｹ apple ｹ0 ﾞ ｹ ｸ ｦ00ｹ ｦ00ｹ ｸ7 0ｸ704 閨 ﾒ ｸ fi 6ｦ009030ｷ ｸ ｧ9ｨB ｷ ｷ 閨0ｹ0 070ｷ ｧ9000ｹ0 fiapple0ｷ30ｹ0 04. Turner, 04. Down Edward ｷ30ｹ ｦ002080ｸ7 00apple 閨 ｹ ｸ7fi020ｸ7apple080ｸ ｸ ｦ0080ｸ apple00036ｧ9apple020ｷ30409 apple080ｸ ｦ ﾇ ｷ ｸ7 020ｸ ｦ0 0ｸ ｹ0 00apple ｧ ｧ applefi 0208 apple ｧ ｹ ｸ ｦ007090ｹ ｷ ｸ7, 0208 閨 ｸ708 apple03 鐶pple ｸ ｹ ｧ9000ｹ0 applefi ｸ704026ｧ apple ｷ ｧ apple000602fi ｷ ｷ ｷ ｸ704 閨 ｸ ｦ0080ｸ7. ﾇ ｧ9 0ｸ7026ｧ8 閨 ｧ8 020ｸ ｷ3026ｧ apple080ｸ ｧ ｦ0apple apple apple ｷ ｹ ｹ0 閨04080ｸ ｸ7076ｧ8-030ｷ30ｹ 閨 ｸ70ｹ0 閨07 apple 046ｦ apple080ｸ7 006ｧ ｸ fi0ｹ0 046ｦ ｹ0. ﾇ 6ｦ0apple ｦ0 030ｷ3apple ( 04026ｧ902090ｹ0 ｨC 0ｸ ｹ0) ｸ700 閨07080ｸ ｧ ｹ0 6ｧ9 080ｸ ｧ9 07 apple fi apple03fi09070ｷ ｷ300 閨07 0ｸ apple ｦ ｷ303086ｦ ｸ apple0603fi apple00036ｧ ｧ8 apple03fi09070ｷ ｾ4apple ｧ apple 閨04080ｸ707 0ｸ ｧ ｸ7046ｧ ｦ , ﾒ 0ｸ , 0ｸ709066ｧ80ｹ0, apple030ｷ fi02080ｹ0 apple ｧ ｸ7026ｧ ｮ ﾞ ｯ 0402 apple03 6ｧ 閨 ｸ7 0ｸ ｧ80ｹ ｹ ｧ ｧ9 026ｦ ｹ ｹ0. ﾒ ｸ7apple fi 閨 apple 閨07 ｨB0ｷ307 閨 ｸ ｸ ｧ ｧ802080ｹ0 46, apple080ｸ ｦ ｹ0 026ｦ ｹ0. ﾇ 0ｸ ｧ ｧ , , 08 fi ｹ ｸ ｦ0 0ｸ ｦ0 6ｧ ｸ fi0ｹ apple ｧ ｸ700 閨 ｹ0 020ｸ fi 6ｦ009030ｷ300 ( ,2,3). ﾌ fi0ｹ0 026ｧ907 0ｸ707080ｹ ｧ9 0ｹ ｦ Down 6ｧ / apple08apple08066ｧ /3 鐶pple applefi ｸ707 0ｸ 閨 閨 ｸ ｧ80ｹ ｹ0, PAPP-A ｦ ｹ0 6 5 hcg. 6ｾ ｸ ｸ703000ｸ ｧ8 apple080ｸ ｦ , ｧ80ｹ ｧ ｧ ｹ apple 閨 apple6ｧ ｹ0 026ｦ ｹ0, 09 08apple086ｧ9 閨 ｸ ｧ apple fi03090ｹ0 (600 00g x apple060207). ﾇ 04030ｷ ｷ ｧ ｸ70409 apple080ｸ7 閨 apple ｸ ｸ fi ｸ7fi020ｸ7apple08 46, ｾ40ｸ7ｨB6ｧ ﾇ 04036ｧ ｸ7apple00036ｧ8040ｷ307 0ｸ ｧ80ｹ ｧ9 0ｹ ｹ ｷ ｧ80ｹ0 000ｸ702036ｧ ｹ0 00apple 鐶pple apple ｧ ｷ30409 apple apple ｷ30ｹ0 applefi 0208 apple ｧ ｹ0 020ｸ76ｧ804090ｹ ｷ30ｹ ｦ002080ｸ7 閨 ｧ ｧ 閨 ｷ307 apple fi fiapple090409, 08apple086ｦ 閨 apple apple 閨 ｹ ｸ7fi020ｸ7apple apple000306apple ｹ0 020ｸ ｦ0 0ｸ ｹ0, apple ｸ apple ｦ00ｹ0 (62%). ﾞapplefi 0ｸ702086ｦ00ｹ0, % apple6ｧ ｦ Turner, % ｷ3006ｧ9 21%, % ｷ3006ｧ % ｷ3006ｧ ｾ apple ｧ % apple6ｧ apple ｹ ｷ ｷ 閨0ｹ0 070ｷ ｧ9000ｹ0 fiapple0ｷ30ｹ0 046ｦ Klinefelter, ｧ ｷ3006ｧ9, ｧ ｷ3006ｧ ｷ304 0ｸ fi0ｹ0. 2 ﾒ0ｸ fi 6ｦ009030ｷ ｦ0080ｸ ｸ ｷ apple ｧ9 07 0ｸ7apple ｧ8030ｷ ｸ ｷ ｦ0 0ｸ7apple applefi ｸ7 6ｧ8 00apple ｦ004 0ｹ0 070ｷ ｧ9 0ｹ0 fiapple0ｷ30ｹ0 046ｦ Noonan ｯs 3, 07fi0408 apple apple03086ｦ0 apple ｸ7096ｧ9080ｸ7 (multiple pterygium disease) 4, 046ｦ Cowchock ｯs 5 6ｧ8 046ｦ Roberts. 6 ﾞ 閨 ｦ0apple080ｸ7 II ｹ ｸ ｧ9000ｹ0 00apple ｦ ｦ ｦ009030ｷ300 7, ｹ ｷ ｧ90ｹ0 apple ｹ0 ( fi03, apple ｧ90709). 2 ﾇ ｧ ｷ ｸ7 020ｸ ｦ0 0ｸ ｹ0 apple ｸ fi 086ｧ9 0900, ｸ ｧ80309, ｧ80309, fi ｷ300, ｸ , ｧ90ｷ ｸ7apple08040ｷ ｧ8 apple ｸ ｧ8 026ｦ ﾇ apple03fi09070ｷ ｸ7 020ｸ ｦ0 0ｸ ｹ applefi 0208 apple0802 閨 ｸ ｸ7fi020ｸ7apple080ｸ7, 02090ｹ ｸ70ｸ8026ｧ80ｹ0 apple030ｷ302000ｹ107090ｹ0 (AFP), 02 0ｸ7apple ｸ7036ｧ fi ｹ 閨0ｹ ｧ9ｨB080ｸ fi ｹ0 026ｦ ｹ apple 03080ｸ7046ｧ ｷ fi apple03fi09070ｷ ｷ30ｹ ｸ702 6ｧ ｦ applefi 6ｦ ｹ ｦ ｹ apple ｧ ｦ apple030808apple ｧ 閨 fi 02090ｹ0 apple ｷ ｧ80ｹ ｸ70ｹ0 016ｧ9 0ｹ0. 6ﾒ2 020ｸ ｸ , 6ｧ9040ｷ30ｹ0 apple

3 6ﾑ80602fi07 1: ﾒ0ｸ fi 6ｦ009030ｷ ﾑ80602fi07 2: ﾒ0ｸ fi 6ｦ009030ｷ300 2 閨 applefi 02 閨 applefi ｷ ｷ307 apple080ｸ7 0000apple08 6ｧ9ｨB apple ｷ3076ｧ fi 046ｦ ｹ ｧ ｹ ｸ ｧ ｹ ｹ0 020ｸ ｷ302 閨0ｹ0 026ｦ ｹ0. ﾞ07026ｧ , apple ｦ fi ｸ ｸ ｷ3036ｧ90ｹ apple ｦ007 apple0802 閨 apple ｷ ｧ80ｹ0 040ｸ ｧ80ｹ0 03 閨 ｸ7 03fi090ｷ ｦ00ｹ0 020ｷ3036ｦ ｹ ｹ ｧ80ｹ0 apple 閨02000ｸ704090ｹ0. ﾇ 0ｸ 閨0709 apple6ｧ fi 046ｦ apple ｧ9 020ｸ704 6ｧ9 07 0ｸ7apple ｧ ｧ8 applefi , ｹ0 閨 ｸ702fi ｸ7apple 閨 ｷ ﾇ apple03fi09070ｷ applefi07, fiapple0ｷ30ｹ 閨 apple03 閨0807 apple03fi 閨 ｷ307 apple , ｧ9ｨB ｸ ｸ7apple ｸ7036ｧ ﾒ ｧ apple apple08036ｦ0 040ｸ (55%) fiapple0ｷ30ｹ apple 03080ｸ7-046ｧ ｸ70ｸ802086ｦ0 6ｦ0 030ｷ3apple, 04026ｧ ｧ8 040ｷ3036ｧ90ｹ0 apple03000ｸ ｧ8 040ｸ ｧ8. 2 ﾞ0ｸ702fi ｸ7apple ｸ7 0ｸ ｹ0 apple ｧ ｦ ｹ ｷ303006ｧ ｧ ｹ ｧ80ｹ0 apple03fi09070ｷ304090ｹ apple ｧ ｸ 閨0ｹ ｷ ｷ 閨0ｹ0 070ｷ ｧ9000ｹ0 6ｧ8 0ｸ704apple03 046ｧ fi 閨 apple6ｧ9 42 apple ｸ ｦ0 0ｸ ｹ0 apple080ｸ apple ｦ ｧ , 閨 fi ｸ7apple ｸ7 0ｸ ｹ0 apple ｧ % 020ｷ ｸ7apple ,6% 020ｷ ｸ7apple ｸ76ｧ804000ｷ307. ﾞ016ｧ9ｨB ｷ303006ｧ9 fi % 020ｷ ｸ7apple ｦ00ｷ307 6ｧ ｧ , ,58% 020ｷ ｸ7apple ｧ ﾇ ｧ8 00 0ｹ0 apple ｧ apple ｷ3 0309fi- 6ﾑ80602fi07 3: ﾒ0ｸ fi 6ｦ009030ｷ apple ｹ0 apple ｸ ｦ0 0ｸ ｹ0 (apple6ｧ ｹ0 1). ﾇ apple03 閨0807 6ｦ applefi apple6ｧ fi, apple6ｧ9ｨB apple00-036ｧ9apple020ｷ apple0600 閨 ｹ0 020ｸ ｦ0 0ｸ ｹ ｹ ｹ0 026ｦ ｹ apple080ｸ ｨB080ｸ ｸ7apple 閨0ｹ 閨0ｹ0 070ｷ ｧ9000ｹ apple0802 閨 ｹ ｸ708020ｸ7apple06026ｧ80ｹ 閨 ｹ0 006ｧ ｸ fi. 6ｾ400 0ｸ7026ｧ apple00-036ｧ9apple020ｷ30409, ｧ8 apple03fi apple ｹ ｧ ｧ80ｹ applefi apple030800apple0803 閨 閨 ｸ ｸ703000ｸ ｧ8 040ｸ ｧ apple 閨 ｸ ｷ 閨0ｷ ｸ7 fiapple080ｸ ｦ ｸ fi 6ｦ009030ｷ300 apple ｦ007 0ｸ ｦ ｦ007080ｸ7 020ｸ76ｧ ｹ0, 0000 apple08-175

4 13 ﾒ0ｸ fi 6ｦ009030ｷ ｸ fi 04030ｷ ｷ fi 閨 ﾞ0309fi ｹ apple ｹ0 ﾞ ｹ ｸ ｧ ｹ0 1. ﾞ0309fi ｹ ｧ ｹ ｦ0080ｸ ｸ fi 6ｦ009030ｷ300 (020308apple08apple086ｧ applefi Descampes et al.) fi ｦ 閨 ｹ fi applefi 10%. 13 ﾇ apple ｧ 閨 apple03 鐶pple ｦ 鐶pple applefi 0ｸ702fi ｧ ｧ8 閨 ｷ ｹ apple0802 閨 ｹ0 006ｧ fi fi fi apple 03086ｦ ｦ 閨0ｹ0. ﾇ 閨030ｷ ｷ307 0ｸ7apple00036ｧ8040ｷ ｷ ｧ8 apple 閨 apple apple 036ｧ804000ｷ ｸ ｧ 閨 ｷ 閨 apple 閨 ｷ ﾇ ｸ700 閨0709 apple ｧ8 040ｸ ｸ703000ｸ ｧ8 006ｧ ｧ9ｨB ｹ ｧ9 0ｹ ｧ 閨 ｷ ｸ76ｧ804000ｷ307. Cystic hygroma with normal chromosomes. Management algorithm E. Anastasakis, N. Papantoniou, G. Daskalakis, S. Mesogitis, A. Antsaklis 1st Department of Obstetrics and Gynaecology University of Athens, "Alexandra" Maternity Hospital, Athens, Greece Correspondance:E. Anastasakis, 14 Kountouriotou str., Ano Vrilissia, , Athens [email protected] Summary Cystic hygroma is associated with chromosomal abnormalities, the most common being Turner syndrome. Diagnosis can be made during the first trimester of pregnancy, the fetus should be scanned for associate malformations, and karyotype examination is imperative. Due to the gloomy prognosis, prenatal counseling is of great importance. Our department is proposing a management algorithm for sound management of fetuses with cystic hygroma. Key words: cystic hygroma, karyotype, management ｧ9 1. Magowan B. Obstetrics and Gynaecology.2nd Edition. Churchill Livingstone, 2002; Descamps P, Jourdain O, Paillet C, et al. Etiology, 176

5 prognosis and management of nuchal cystic hygroma: 25 new cases and literature review. European Journal 08f Obstetrics & Gynaecology and Reproductive Biology 1997;71: Izquierdo L, Kushniro, Sanchez D, et al. Prenatal Diagnosis of Noonan ｯs Syndrome in a female infant with spontaneous resolution of cystic hygroma and hydrops. West I Med 1990; 152: Zeitune M, Fejgin MD, Abramovicz J, et al. Prenatal diagnosis of the pterygium syndrome. Prenat Diagn 1998; 8: Cowchock S, Wapner RJ, Kurtz A, et al. Not all cystic hygromas occur in the Ullrich Turner Syndrome. Am I Med Genet 1982; 12: Edwards MJ, Graham JM Jr. Posterior nuchal cystic hygroma. Clin Perinatol 1990;17: Wenstrom KD, Williamson RA, Hoover WW, et al. Achondrogenesis type II (Ranger ｨC Saldino) in association with jugular lymphatic obstruction sequence. Prenat Diagn 1989; 9: H.A Tanriverdi, AK Ertan, H.J Hendrik et al. Outcome of cystic hygroma in fetuses with normal karyotypes depends on associated findings. European Journal of Obstetrics or Gynaecology and Reproductive Biology 2005;118: Rosaes P, Guariglia L. Transvaginal Ultrasound detection of septated and non-septated cystic hygroma in early pregnancy. Fetal Diagn Ther 1997; 12: Bronshtein M, Bar-Hava I, Blumenfeld I, et al.the difference between septated and nonseptated nuchal cystic hygroma in the early second trimester. Obstet Gynecol 1993; 81: Shulman LP, Raafat NA, Mace PC, et al. Significance of septations in isolated fetal cystic hygroma detected in the first trimester. Prenat Diagn 1994;14: Ganapathy R, Guven M, Sethna, et al. Natural history and outcome of prenatally diagnosed cystic hygroma. Prenat Diagn 2004; 24: Edmund S, Howarth E. S, Elizabeth S, et al. Population-based study of the outcome following the prenatal diagnosis of cystic hygroma. Prenat Diagn 2005; 25: