Innovative technologies for diagnosis and screening of genetic diseases in antenatal age

Federica Cariati, Valeria D’Argenio, Rossella Tomaiuolo


The rapid progress of the technologies applied to laboratory diagnostics allows several diagnostic and screening options for the identification of genetic diseases and chromosomal alterations in the antenatal age. Couples at risk to have a child with a chromosomal or genetic illness (i.e., carriers of previously identified genetic alterations, a previous child with a genetic condition, and/or a positive family history) should receive personalized genetic counselling, preferably before the pregnancy. In this way, couples will be able to receive appropriate information about the best diagnostic option based on their personal and familial history. Taking into account that prenatal diagnostic options are rapidly changing with the emerging of more sensitive technologies and that, consequently, the offer for diagnostic tests in reproductive medicine is increased, in this review we discuss about the diagnostic indications for each test in antenatal age, such as preimplantation, invasive prenatal and non-invasive prenatal diagnosis (PND). In addition, sampling and the laboratory techniques are well represented. Rapid progress of modern high-throughput molecular technologies, largely based on next generation sequencing, has required clinical validation studies. The most representative studies were included in order to better characterize the technology used for each diagnostic test. Therefore, the combination of innovative diagnostic technologies with the increase in demand (also related to the increased age of both partners facing the first pregnancy) has contributed to the practice of antenatal diagnosis and non-invasive prenatal screening (NIPT).