gms | German Medical Science

50. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie (gmds)
12. Jahrestagung der Deutschen Arbeitsgemeinschaft für Epidemiologie (dae)

Deutsche Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie
Deutsche Arbeitsgemeinschaft für Epidemiologie

12. bis 15.09.2005, Freiburg im Breisgau

Report on a Cluster of Trisomy 21 Cases in the Region of Rheinhessen, Germany

Meeting Abstract

  • Awi Wiesel - Kinderklinik der Johannes Gutenberg-Universität, Mainz
  • Annette Queisser-Luft - Kinderklinik der Johannes Gutenberg-Universität, Mainz
  • Gabi Stolz - Kinderklinik der Johannes Gutenberg-Universität, Mainz
  • Klaus Schlaefer - Deutsches Krebsforschungszentrum, Heidelberg
  • Bernhard Zabel - Kinderklinik der Johannes Gutenberg-Universität, Mainz
  • Maria Blettner - IMBEI, Johannes Gutenberg-Universität, Mainz
  • Jürgen Wahrendorf - Deutsches Krebsforschungszentrum, Heidelberg

Deutsche Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie. Deutsche Arbeitsgemeinschaft für Epidemiologie. 50. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie (gmds), 12. Jahrestagung der Deutschen Arbeitsgemeinschaft für Epidemiologie. Freiburg im Breisgau, 12.-15.09.2005. Düsseldorf, Köln: German Medical Science; 2005. Doc05gmds209

Die elektronische Version dieses Artikels ist vollständig und ist verfügbar unter: http://www.egms.de/de/meetings/gmds2005/05gmds168.shtml

Veröffentlicht: 8. September 2005

© 2005 Wiesel et al.
Dieser Artikel ist ein Open Access-Artikel und steht unter den Creative Commons Lizenzbedingungen (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.de). Er darf vervielf&aauml;ltigt, verbreitet und &oauml;ffentlich zug&aauml;nglich gemacht werden, vorausgesetzt dass Autor und Quelle genannt werden.


Gliederung

Text

Introduction

At a prevalence rate of approximately 1:500, trisomy 21 (Tri21) is the most important genetic cause of mental retardation. Environmental factors may play a role and exert a deleterious effect during meiosis II, a sensitive period shortly after conception.

Subjects and methods

The population-based Birth Registry Mainz Model actively surveys Rheinhessen, a region of approximately 400,000 inhabitants. Since 1990, a total of 48,303 newborns have been screened, covering about 90% of all birth in this area. Statistical analysis was performed using 2x2 tables and Poisson distribution.

Results

Between January and June 2004, 8 live births with Tri21 were observed, which exceeds the expected number of about 3-4 live births within a 6-month period. Based on the calculated time of conception of all Tri21 children we found that eleven out of eighteen infants within 2003 were conceived within a period of three months (June to August 2003). From April 1989 until today, a total of 102 newborns and fetuses with Tri21 were recorded, resulting in a ratio of 1:474. A total of 18 cases were documented to be conceived in 2003 (estimated ratio 1:173). The prevalence ratio (RR) for the two periods (1989-2002 vs 2003) is 3.1 (1.9-5.2, p<0.0001). Assuming a Poisson distribution of λ = 0.6, the statistical probability (p) for the occurrence of eleven cases in three months is less than 0.0001.

Discussion

The only proven risk factor for an infant with Tri21 is high maternal age (≥35 years). In 2003 33% of mothers of children with Tri21 were older than 34 years compared to 40% in the preceding years. Smoking, maternal irradiation, alcohol consumption, oral contraceptive, and fertility drug use, as further discussed risk factors were statistical similar distributed between Tri21 cases and the rest of the cohort. Hypotheses include the extreme temperatures (>40°C) between June and August 2003, with very low Rhine and ground-water levels. Planned molecular studies will focus on the origin of the extra chromosome 21 to determine the timing of the non-disjunction event (meiosis I vs II). Case-control studies will evaluate environmental factors (incl. climatic stress).