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24 February 2008, BMJ
Luca Puccetti, President of Interdisciplinary Medical Society Promed Galileo
Pisa, 56011,
Renzo Puccetti, MD


Italian law rules (act N. 194/1978) that termination of pregnancies after the first trimester is possible only "when pathological processes are ascertained, including those concerning relevant foetal abnormalities or deformities, which determine a serious danger for the woman's physical or psychological health" [1].
By Italian law (1) when foetus can lives independently abortion is possible only when pregnancy (or delivery) represents a serious danger for the woman's life.
Thanks to improvements in life support prematures can now live independently also at 22-23 weeks.
In Italy in 2005 abortions were 132,790, those performed after the first trimester were 2,7% and those performed at/after the 21th gestational week were 0,7% which means 929 abortions (2) performed near to the beginning of the possible, independent life.
Incredibly no guidelines exist to evaluate what could be considered a "relevant" abnormality, neither any document or guideline has ever been provided about validated methods or procedures to evaluate the risk for the woman's mental health. The certification of the risk for woman's health is valid even if signed by a not specialized physician and it is possible to reiterate the request for certification without any limit in case of physician's refusal.
Given the lack of specific guidelines the physician's judgement is absolutely discreptional, thus an abortion can occurr after the first trimester also in case of minimal abnormalities.
Notwithstanding the quality of life in 47 XXY Klinefelter's syndrome is near normal in most cases, pregnancy termination rate of Klinefelter's foetus may be up to 73,9% [3], but the presence of a genetics specialist in the post-diagnosis counselling decreases the probability of termination [4].

Therefore it is necessary to provide the woman a good quality care not only a mere good quality diagnostics.
[1] Legge 22 maggio 1978 n. 194. Norme per la tutela sociale della maternità e sull'interruzione volontaria della gravidanza. Available at: (last access: 24.02.2008).
[2] Relazione del Ministro della Salute sulla attuazione della legge contenente norme per la tutela sociale della maternità e per l'interruzione volontaria di gravidanza (legge 194/78)anno 2007. avaliable at: (last access: 24.02.2008).
[3] Hamamy HA, Dahoun S. Parental decisions following the prenatal diagnosis of sex chromosome abnormalities. Eur J Obstet Gynecol Reprod Biol. 2004 Sep 10;116(1):58-62.
[4] Marteau TM, Nippert I, Hall S, Limbert C, Reid M, Bobrow M, Cameron A, Cornel M, van Diem M, Eiben B, García-Miñaur S, Goujard J, Kirwan D, McIntosh K, Soothill P, Verschuuren-Bemelmans C, de Vigan C, Walkinshaw S, Abramsky L, Louwen F, Miny P, Horst J; DADA Study Group. Decision-making after diagnosis of fetal abnormality. Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals. Prenat Diagn. 2002 Jul;22(7):562-6.
Competing interests: None declared
[24Feb08, British Medical Journal Rapid Responses online,]