Significant increase in trisomy 21 in Berlin nine months after the Chernobyl reactor accident: temporal correlation or causal relation?

BMJ 1994;309:158-161 (16 July)

Papers

Significant increase in trisomy 21 in Berlin nine months after the Chernobyl reactor accident: temporal correlation or causal relation?

K Sperling, J Pelz, R-D Wegner, A Dorries, A Gruters, M Mikkelsen

Institut fur Humangenetik, Freie Universitat Berlin, D-14059 Berlin Institut fur Geschichte der Medizin, D-79104 Freiburg, Germany Universitatskinderklinik (KAVH), D-14059 Berlin John F Kennedy Instituttet, DK-2600 Glostrup, Denmark Correspondence to: Professor Sperling.

Abstract

Objective : To assess whether the increased prevalence of trisomy21 in West Berlin in January 1987 might have been causally relatedto exposure to ionising radiation as a result of the Chernobylreactor accident or was merely a chance event.
Design : Analysis of monthly prevalence of trisomy 21 in WestBerlin from January 1980 to20December 1989.
Setting : Confines of West Berlin.
Results : Owing to the former "island" situation of West Berlinand its well organised health services, ascertainment of trisomy21 was thought to be almost complete. A cluster of 12 casesoccurred in January 1987 as compared with two or three expected.After exclusion of factors that might have explained the increase,including maternal age distribution, only exposure to radiationas a result of the Chernobyl reactor accident remained. In sixof seven cases that could be studied cytogenetically the extrachromosome was of maternal origin, confirming that nondisjunctionhad occurred at about the time of conception.
Conclusion : On the basis of two assumptions - (a) that maternalmeiosis is an error prone process susceptible to exogenous factorsat the time of conception; (b) that owing to the high prevalenceof iodine deficiency in Berlin a large amount of iodine-131would have been accumulated over a short period - it is concludedthat the increased prevalence of trisomy 21 in West Berlin inJanuary 1987 was causally related to a short period of exposureto ionising radiation as a result of the Chernobyl reactor accident.A global risk study on the health implications of the Chernobylreactor accident in 1986 concluded that "probably no adversehealth effect will be manifest by epidemiological analysis."*RF1*

Clinical implications

Clinical implications
Nine months after the Chernobyl reactor accident a cluster of 12 trisomy 21 cases occurred in West Berlin instead of the expected two or three
Most of these cases originated from maternal nondisjunction that coincided with the time of highest radioactive exposure, particularly inhalation of iodine-131
It is concluded that in women the time around conception is most sensitive for the induction of numerical chromosome anomalies by low dose irradiation
Any exposure to ionising radiation (or other harmful exogenous factors), especially around conception, should be avoided
A history of exposure to ionising radiation at around conception is an indication for genetic counselling and possibly prenatal diagnosis

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