Prenatal counselling and management in the early neonatal period

Abstract

Prenatal tests enable prospective parents to get essential information about foetal health and to make informed decisions about the pregnancy. Currently prenatal detection of chromosome anomalies, including 47,XXY, is obtained through several invasive and non-invasive techniques. According to our experience, too little is done to prepare couple to the occurrence of sex chromosome anomalies and a positive prenatal test can easily turn into a shock. This requires immediate attention from professionals involved in the prenatal team, obstetrician, medical geneticist, psychologist and endocrinologist. The initial shock after the diagnosis of foetal sex chromosome aneuploidy (SCA) may evolve into trauma if the communication is not sufficiently neutral, clear and gradual: that is why a multidisciplinary team has to be in place for a couple to make the most reasoned choice of which they are going to face. At birth, as well as in early infancy the child with Klinefelter syndrome does not show any particular signs or symptoms. In particular, genital anomalies are not commonly observed. In these vulnerable phases, creating a bridge between the paediatrician and the neuropsychiatric service in order to help parents and their child in the adjustment, acceptance and understanding of the characteristics of this condition during childhood and long after is fundamental.