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Genetic Counseling in Assisted Reproductive Technology
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Trisomy X is compatible with life and causes a genetic syndrome called Triple X syndrome. Triple X syndrome is common in the human population with an incidence of 1/1000 female births. Most pregnancies identified to have Triple X syndrome are able to develop to term. Triple X syndrome is not phenotypically recognizable at birth. Affected individuals may appear taller than average and have learning disabilities. Fertility is usually normal.
Noninvasive prenatal screening for fetal sex chromosome aneuploidies
Published in Expert Review of Molecular Diagnostics, 2021
Cechuan Deng, Sau Wai Cheung, Hongqian Liu
Patients with 47, XXX have no distinctive appearance. About 50% of Triple X syndrome patients show motor and speech-language development delays in infancy and childhood, the latter may continue into adulthood and require additional tutoring [27–29]. Autistic spectrum disorder symptoms are observed in approximately 15% of girls with Triple X syndrome [30,31] while 25% to 30% have attention deficit hyperactivity disorder [32]. The fertility of most patients with 47, XXX is likely to be normal unless combined with complicated urogenital disorders or premature ovarian failure [33,34].
“Your son has Klinefelter syndrome.” How parents react to a prenatal diagnosis
Published in Children's Health Care, 2021
Laura Zampini, Francesca Dall’Ara, Gaia Silibello, Paola Francesca Ajmone, Federico Monti, Claudia Rigamonti, Faustina Lalatta, Maria Antonella Costantino, Paola Giovanna Vizziello
In the present study, the first communication was given to the parents by a geneticist in more than half of the cases. Therefore, unlike previous studies (Riggan et al., 2020), the disclosure process was mainly conducted by experts who were specifically trained to disclose the diagnosis of a genetic condition. In fact, in the formative training of geneticists, the practice of diagnosis disclosure has a crucial role. Moreover, only three parents discovered the diagnosis by reading a medical report, and no one reported to have learned of the diagnosis by a telephone call. This situation was different from that described by Abramsky et al. (2001), in which the results of prenatal screening were given to the parents over the telephone by a midwife whom they had never met or had met only once. However, the differences in the disclosure process’s satisfactory level suggest the need for a standard protocol for giving results to parents who are undergoing prenatal karyotyping. For instance, as Lalatta et al. (2010) suggested for the disclosure of triple X syndrome, to increase the positive adjustment of parents involved in prenatal diagnosis, counseling about sex chromosome trisomies should be useful before performing the prenatal screening since parents frequently think only about Down syndrome when asking for prenatal screening. The benefits of a communication process held by an experienced geneticist are supported by our data highlighting how more than 70% of the parents satisfied by the disclosure process received the diagnosis by a geneticist. However, we should also note that 29% of the not-satisfied parents received the diagnosis by a geneticist. This could be interpreted considering that being trained to diagnosis disclosure does not necessarily imply that all these professionals have up-to-date knowledge of this particular genetic condition.
Evaluating the Scope of Language Impairments in a Patient with Triple X Syndrome: A Brief Report
Published in Developmental Neurorehabilitation, 2020
Puck Christine van Elst, Maarten Otter, Frank Wijnen, Caroline Junge
Triple X syndrome (47,XXX) is characterized by the presence of an extra X chromosome in women.1 Its prevalence is estimated to be 1/1000 females2 or even lower[3;.45]. Because triple X syndrome manifests itself differently in individuals, it is assumed that many women remain undiagnosed because their symptoms are too mild to warrant medical attention, while only 16% of women with triple X syndrome receive a diagnosis because they exhibit more severe symptoms or have been identified via prenatal screenings.3–6