Journal de Gyn´ ecologie Obst´ etrique et Biologie de la Reproduction (2009) 38, 599—603 CLINICAL CASE Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX Diagnostic prénatal et pronostic du syndrome triple X : 47, XXX H. Ben Hamouda a,* , N. Mkacher a , H. Elghezal b , H. Bannour c , M. Kamoun a , H. Soua a , A. Saad b , M.M. Souissi c , M.T. Sfar a a Neonatal Unit, Department of Pediatrics, Tahar Sfar University Hospital, 5111 Mahdia, Tunisia b Department of Cytogenetic and Biology of Reproduction, Farhat Hached University Hospital, 4000 Sousse, Tunisia c Department of Obstetrics and Gynaecology, Tahar Sfar University Hospital, 5111 Mahdia, Tunisia Received 21 February 2009 ; received in revised form 9 July 2009; accepted 6 August 2009 Available online 16 September 2009 KEYWORDS Triple X syndrome; Prenatal diagnosis; Prognosis Summary Triple X syndrome is a relatively common sex chromosomal abnormality occurring in 0,1% of live-born female infants. Most of these infants have a normal phenotype and only a few cases with 47, XXX karyotype have congenital malformations. We report three cases of triple X syndrome that were diagnosed prenatally by genetic amniocentesis for advanced maternal age and have been observed from birth to age of 3 to 12 years. A description of their growth and development is presented. The birth weight was normal in all patients and one of them had facial dysmorphism with right microphtalmia and auricular septal defect. During the first 2 years of life, the neuromotor development of these infants was not distinguishable from chromosomally normal children. By 3 years of age, two patients have a moderate developmental delay in speech and language. One girl 12-year-old had normal schooling. The diagnosis of the triple X syndrome can be never made because clinical demonstrations are not rather important to arouse the demand of a karyotype. Prenatal diagnosis is often made in front of the advanced maternal age. Expectant parents must be counseled as to the significance of this 47, XXX karyotype and prognostic information must be given. © 2009 Elsevier Masson SAS. All rights reserved. MOTS CLÉS Syndrome triple X ; Diagnostic prénatal ; Pronostic Résumé Le syndrome triple X est une anomalie chromosomique relativement fréquente qui touche 0,1 % des filles nées vivantes. La plupart de ces filles ont un phénotype normal et seule- ment quelques cas ont des malformations congénitales. Nous rapportons trois cas de syndrome triple X diagnostiqués en prénatal par l’étude du caryotype par amniocentèse réalisée devant l’âge maternel avancé et qui ont été observés de la naissance jusqu’à l’âge de trois à 12 ans avec une description de leur croissance et de leur développement psychomoteur. Le poids de naissance était normal dans tous les cas et un seul avait une dysmorphie faciale avec * Corresponding author. E-mail address: hechmi.benhamouda@rns.tn (H. Ben Hamouda). 0368-2315/$ – see front matter © 2009 Elsevier Masson SAS. All rights reserved. doi:10.1016/j.jgyn.2009.08.003