摘要：The availability of novel technologies, such as tandem-mass-spectrometry (MS/MS) and
DNA analysis, has expanded tremendously the number of genetic conditions that can be diagnosed
through neonatal screening programs at birth, including conditions that cannot be treated nor prevented,
or that will become manifest only later in life, or that identify individuals that are only at
an increased risk of multifactorial conditions. This has increased the number and complexity of
ethical problems related to newborn screening programs, creating considerable confusion and generating
controversies and ethical concerns. The experience so far gained indicates that, besides the
incomplete knowledge of many aspects of the conditions to be identified, the majority of screening
programs do not pay sufficient attention to the problems of communication, information and
counselling of the parents. Therefore, communication must be substantially improved if we wish
to increase the efficiency of such programs and avoid possible unwanted side effects. Furthermore,
ethical issues should receive more attention and consideration for a better and more complete understanding
of the overall impact of neonatal screening programs. This more extensive and ethically
correct approach should allow us to find an optimal equilibrium between the potential benefits and
the possible damages deriving from neonatal screening programs.
