BACKGROUND: The use of genetic investigations applied to invasive prenatal diagnosis has progressively increased in the last years. This has led to a better understanding of prognosis and diagnosis of certain pathological conditions that can be detected in prenatal life but has also raised ethical and legal questions about the consequences that these investigations may have in the management of the pregnancy. Among the most debated aspects there is the doubt that indication to a genetic counseling and / or carrying out a genetic investigation may be factors influencing women's choice as for the late termination of pregnancy. METHODS: In order to investigate such hypothesis, a pool of 70 women belonging to the department of Obstetrics and Gynecology of an Italian Level Ill University Hospital was analyzed; they received the indication to carry out a genetic counselling after the detection of fetal anomalies at an ultrasound scan between lune 2016 and December 2019. RESULTS: Out of the 70 cases analyzed, the following was reported: 8 terminations of pregnancy (TOP), 2 intrauterine fetal deaths and 60 deliveries. Focusing on the prognosis formulated in the cases where a TOP was performed, 5 out of 8 cases saw the prognosis as verisimilarly severe or severe. Considering the remaining 3 cases where a TOP was performed, in one case the diagnosis of trisomy 21 was made, in one case no sufficient data were available to formulate a prognosis and in the last case the geneticist expressed a good prognosis suggesting to perform confirmatory investigations. The woman terminated the pregnancy without performing such tests. CONCLUSIONS: Evidence showed that element with greatest effect on their decisions as to terminate or continue pregnancy was not the simple indication to carry out a genetic counselling, but rather the overall prognosis provided by the geneticist during genetic counselling.

Prenatal diagnosis and late voluntary termination of pregnancy: a medico-legal approach.

Clara Cestonaro;Anna Aprile
2022

Abstract

BACKGROUND: The use of genetic investigations applied to invasive prenatal diagnosis has progressively increased in the last years. This has led to a better understanding of prognosis and diagnosis of certain pathological conditions that can be detected in prenatal life but has also raised ethical and legal questions about the consequences that these investigations may have in the management of the pregnancy. Among the most debated aspects there is the doubt that indication to a genetic counseling and / or carrying out a genetic investigation may be factors influencing women's choice as for the late termination of pregnancy. METHODS: In order to investigate such hypothesis, a pool of 70 women belonging to the department of Obstetrics and Gynecology of an Italian Level Ill University Hospital was analyzed; they received the indication to carry out a genetic counselling after the detection of fetal anomalies at an ultrasound scan between lune 2016 and December 2019. RESULTS: Out of the 70 cases analyzed, the following was reported: 8 terminations of pregnancy (TOP), 2 intrauterine fetal deaths and 60 deliveries. Focusing on the prognosis formulated in the cases where a TOP was performed, 5 out of 8 cases saw the prognosis as verisimilarly severe or severe. Considering the remaining 3 cases where a TOP was performed, in one case the diagnosis of trisomy 21 was made, in one case no sufficient data were available to formulate a prognosis and in the last case the geneticist expressed a good prognosis suggesting to perform confirmatory investigations. The woman terminated the pregnancy without performing such tests. CONCLUSIONS: Evidence showed that element with greatest effect on their decisions as to terminate or continue pregnancy was not the simple indication to carry out a genetic counselling, but rather the overall prognosis provided by the geneticist during genetic counselling.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11577/3510842
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