Incidence of sex chromosome aneuploidy in a prenatal population: 27‐year longitudinal study in Northern Italy

Abstract

What are the novel findings of this work?This longitudinal, population-based study demonstrates that the rate of diagnostic invasive prenatal testing has decreased, while the prenatal diagnosis of sex chromosome aneuploidy (SCA) has increased. Based upon reported indications for diagnostic prenatal testing, the increase in prenatal ascertainment of SCA has been influenced by the availability of cell-free (cf) DNA. What are the clinical implications of this work?Without a sensitive prenatal screening tool, diagnosis of SCA, particularly in infancy, is challenging due to the paucity of physical findings and non-specific behavioral symptoms. Including SCA in prenatal cfDNA screening will result in the earlier identification of affected individuals and improve outcome.

The Effect of Hormonal Therapy on the Behavioral Outcomes in 47,XXY (Klinefelter Syndrome) between 7 and 12 Years of Age

“…The use of cell-free DNA (cfDNA) of placental origin in the maternal plasma as a screening modality with the option to include the sex chromosomes has been made available to women beginning in 2011 [24]. These cfDNA tests are also known as noninvasive prenatal testing (NIPT) and evaluate the likelihood that the fetus has an autosomal trisomy for chromosomes 13, 18, or 21, with a low false positive rate and high sensitivity rate [25].…”