Experts' opinions on the benefit of an incidental prenatal diagnosis of sex chromosomal aneuploidy: a qualitative interview survey

Abstract

Most experts favored an incidental prenatal diagnosis of SCA despite the complex counseling issues and their acknowledgment of possible parental decisions to terminate pregnancy. They believed the benefits greatly outweigh the disadvantages.

Screening for Sex Chromosome Aneuploidy by Cell-Free DNA Testing: Patient Choice and Performance

“…This raises ethical and practical challenges for expanding the indications for cfDNA testing to SCAs and other conditions such as microdeletions or microduplications, since the related biological aspects will lead to complex counseling issues. However, a qualitative interview survey of experts' opinions on the incidental prenatal diagnosis of SCAs shows that their early detection has benefits greatly exceeding counseling issues and possible parental decisions to terminate the pregnancy [19]. Recent findings also show positive effects of postnatal hormone therapy on the behavioral phenotype if applied earlier to these patients [20,21].…”

Prenatal diagnosis of sex chromosome aneuploidies and disorders of sex development – a retrospective analysis of 11-year data

“…While Turner and Klinefelter syndromes are frequently associated with clinical manifestations and phenotype stigmata, 47,XXX, 47,XYY, and mosaic forms of SCAs have a much less effect on intelligence, fertility, sexual development, and phenotype than was presumed earlier [8]. A qualitative interview survey of experts' opinion on incidental prenatal diagnosis of SCAs reported that it is believed that early detection of SCAs has benefits that greatly exceed the complex counseling issues and possible parental decisions to terminate the pregnancy [21]. Presymptomatic detection of SCAs may provide an opportunity for early interventions toward the better quality of life of the affected child and a chance for the parents and the child to adapt to the diagnosis and possible repercussions that it represents [20].…”

Non‐invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction

“…4 As most of these conditions are not associated with structural abnormalities identifiable by ultrasound or abnormal biochemical profiles, their detection previously has been limited to the postnatal setting or as a consequence of invasive fetal testing for other conditions. 5 The most common SCAs include Monosomy X (Turner syndrome), XXY or XXYY (Klinefelter syndrome), XXX (Triple X syndrome or Trisomy X), and XYY. Most cases of XXX and XYY are phenotypically mild without intellectual disability and therefore may never warrant clinical evaluation.…”