English 
Italian La diagnostica molecolare in epoca prenatale: evoluzione tecnologica ed implicazioni etiche in medicina della riproduzione
Molecular diagnostics in the prenatal age: technological evolution and ethical implications in reproductive medicine
AUTORI
1 Università Vita-Salute San Raffaele, Milano
2 Università Telematica San Raffaele, Roma
3 CEINGE Biotecnologie Avanzate, Napoli
ABSTRACT
Molecular diagnostics in the prenatal age: technological evolution and ethical implications in reproductive medicine
Congenital anomalies have a birth rate of 3-5% in the general population. The ability to identify genetic alterations in the prenatal age is noticeably increased with the advancement of molecular diagnostic techniques, which are included today in clinical practice. Nowadays, we have several non-invasive and invasive testing options and it is relevant to consider that some of them have a screening value while others have a proper diagnostic role. Based on that, when we are approaching prenatal molecular tests, it is crucial to weigh the multiple ethical implications, related to specific single testing or shared by more of them. Indeed, the interpretation of the testing results may be straightforward especially when the test aims to assess a known familial alteration, while it is more challenging when a genetic variation of unknown significance has to be reported. Thus, prenatal genetic counselling, pre and post-test, is essential to drive the couples to balance the desire to acquire as much information as possible and the real clinical utility of prenatal genetic investigations.