Neural Tube Defects: The Experience of the Registry of Congenital Malformations of Alsace, France, 1995-2009

• Published in: Fetal diagnosis and therapy Vol. 37; no. 1; pp. 6 - 17
• Main Authors: Timbolschi, Dana, Schaefer, Elise, Monga, Bondo, Fattori, Delphine, Dott, Béatrice, Favre, Romain, Kohler, Monique, Nisand, Israël, Viville, Brigitte, Astruc, Dominique, Kehrli, Pierre, Gasser, Bernard, Lindner, Véronique, Marcellin, Luc, Flori, Elisabeth, Girard-Lemaire, Françoise, Dollfus, Hélène, Doray, Bérénice
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland S. Karger AG 01.01.2015
• Subjects: Abnormalities; Adult; Female; France - epidemiology; Humans; Male; Neural tube; Neural Tube Defects - diagnosis; Neural Tube Defects - epidemiology; Original Paper; Pregnancy; Prenatal Diagnosis; Prevalence; Registries; Retrospective Studies; Statistics; France; Genetics; Prenatal diagnosis; Epidemiology; Neural tube defects
• ISSN: 1015-3837; 1421-9964
• DOI: 10.1159/000362663

Context and Objective: Considering the lack of accurate and up-to-date information available about neural tube defects (NTDs) in France, the purpose of this study was to review clinical and epidemiological data of NTDs and to evaluate the current efficiency of prenatal diagnosis in Alsace (northeastern France). Methods: A population-based retrospective study was performed from data of the Registry of Congenital Malformations of Alsace between 1995 and 2009. Data were analyzed as a whole and according to the anatomical type of the malformation (anencephaly, cephalocele and spina bifida). Statistical analyses were carried out using the Statistical Package for the Social Sciences. Results: 272 NTDs were recorded divided in 113 cases of anencephaly (42%), 35 cases of cephalocele (13%) and 124 cases of spina bifida (45%). The total prevalence at birth of 14/10,000 (95% CI 13-16) was stable throughout the reporting period. A chromosome abnormality was identified in 27 cases (12% of all karyotyped cases). NTDs were prenatally diagnosed by ultrasound in 88% of the cases. The mean age upon prenatal diagnosis slightly declined during the 15-year period, significantly for spina bifida only. The global rate of terminations of pregnancy following prenatal diagnosis was 97% (230/238). Conclusion: This work constitutes a unique population-based study providing accurate and specific up-to-date data from a unique center over a longer period (1995-2009). The most important information concerns the high and stable prevalence, which calls into question the efficiency of the primary prevention by folic acid supplementation and the efficiency of prenatal diagnosis.