Meriem Aloui1, Kaouther Nasri2, Nadia Ben Jemaa3, Meriem Sahraoui4, Aida Masmoudi3, Dorra Zghal5, Dalenda Chelli6, Habiba Chaâbouni7, Abdel Majid Ben Hamida8, Soumeya Siala Gaigi3, Raja Marrakchi9. 1. Faculté des Sciences de Bizerte, Université de Carthage, 7021 Zarzouna, Bizerte, Tunisia; UR 06/SP14 Troubles du développement embryo-fœtal et placentaire, Service d'embryo-fœtopathologie, Centre de Maternité et de Néonatologie de Tunis, 1007 Tunis, Tunisia. Electronic address: aloui.meriem@gmail.com. 2. Faculté des Sciences de Bizerte, Université de Carthage, 7021 Zarzouna, Bizerte, Tunisia; UR 06/SP14 Troubles du développement embryo-fœtal et placentaire, Service d'embryo-fœtopathologie, Centre de Maternité et de Néonatologie de Tunis, 1007 Tunis, Tunisia. 3. UR 06/SP14 Troubles du développement embryo-fœtal et placentaire, Service d'embryo-fœtopathologie, Centre de Maternité et de Néonatologie de Tunis, 1007 Tunis, Tunisia; Faculté de Médecine de Tunis, Université Tunis El Manar, 1068 Tunis, Tunisia. 4. UR 06/SP14 Troubles du développement embryo-fœtal et placentaire, Service d'embryo-fœtopathologie, Centre de Maternité et de Néonatologie de Tunis, 1007 Tunis, Tunisia. 5. Service de Gynécologie obstétrique C, Centre de Maternité et de Néonatologie de Tunis, 1007 Tunis, Tunisia. 6. Service de Gynécologie obstétrique A, Centre de Maternité et de Néonatologie de Tunis, 1007 Tunis, Tunisia. 7. Laboratoire de Génétique Humaine, Faculté de Médecine de Tunis, Université Tunis El Manar, 1068 Tunis, Tunisia. 8. Service de Médecine Préventive, Faculté de Médecine de Tunis, Université Tunis El Manar, 1068 Tunis, Tunisia. 9. Laboratoire de Génétique, Immunologie et Pathologie Humaine, Faculté des Sciences de Tunis, Université Tunis El Manar, 1068 Tunis, Tunisia.
Abstract
BACKGROUND: For Down syndrome (DS), traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. In Tunisia, the current work is the first in-depth study in epidemiology of DS from fetopathological data. AIM OF THE STUDY: The aim of this epidemiological study was to determine the impact of some feto-maternal characteristics in occurrence of DS and to search the frequency of associated congenital malformations with this syndrome. METHODS: Our retrospective study was realized for 144 fetuses with DS among 9321 autopsied fetuses in embryo-fetopathological service between 1994 and 2011. RESULTS: In our study, the majority of mothers (72.91%) were 35 years and older, with a statistically significant difference (p<10-6, OR=16.7, CI=8.7-32.4). The abnormalities of extremities (31%) were the most common fetal abnormalities followed by facial (23.51%) and digestive abnormalities (19.63%). CONCLUSION: One of the main conclusions of this research is that the most common risk factor for DS is maternal age. On the other hand, the type and the frequency of associated congenital anomalies with DS are still controversial.
BACKGROUND: For Down syndrome (DS), traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. In Tunisia, the current work is the first in-depth study in epidemiology of DS from fetopathological data. AIM OF THE STUDY: The aim of this epidemiological study was to determine the impact of some feto-maternal characteristics in occurrence of DS and to search the frequency of associated congenital malformations with this syndrome. METHODS: Our retrospective study was realized for 144 fetuses with DS among 9321 autopsied fetuses in embryo-fetopathological service between 1994 and 2011. RESULTS: In our study, the majority of mothers (72.91%) were 35 years and older, with a statistically significant difference (p<10-6, OR=16.7, CI=8.7-32.4). The abnormalities of extremities (31%) were the most common fetal abnormalities followed by facial (23.51%) and digestive abnormalities (19.63%). CONCLUSION: One of the main conclusions of this research is that the most common risk factor for DS is maternal age. On the other hand, the type and the frequency of associated congenital anomalies with DS are still controversial.