Parental decisions regarding prenatally detected fetal sex chromosomal abnormality and the impact of genetic counselling: An analysis of 57 cases in Taiwan

Abstract

Genetic counselling by well-trained specialists is valuable, and the trend towards fewer terminations at our centre suggests improved parental knowledge of pathology associated with SCA.

Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature

“…Additionally, after reviewing 89 retrospective patient records in Hungary, Mezei et al 25 concluded that "pregnancies with a diagnosis of the more severe 45,X and 47,XXY karyotypes were terminated more often than pregnancies with a diagnosis of the less severe 47,XYY and 47,XXX karyotypes (P < 0.05). " A study by Shaw et al 27 reported that 45,X mosaicism was more strongly associated with termination of pregnancies than other types of SCA mosaicisms (P < 0.004).…”

“…Descriptive data: Type of SCA represented the most frequent factor associated with terminating a pregnancy, identified in more than half of the reviewed studies (57.9%). 3,[8][9][10]18,20,22,23,[27][28][29] Two specific types of SCAs, 45,X (Turner syndrome) and 47,XXY (Klinefelter syndrome), in particular, were associated with termination. Nine studies (47.4%) [8][9][10]18,20,23,[27][28][29] indicated that parents with a Turner syndrome-affected fetus would be more likely to terminate the pregnancy, with an average termination rate of 76% (range: 33-100%).…”

“…3,[8][9][10]18,20,22,23,[27][28][29] Two specific types of SCAs, 45,X (Turner syndrome) and 47,XXY (Klinefelter syndrome), in particular, were associated with termination. Nine studies (47.4%) [8][9][10]18,20,23,[27][28][29] indicated that parents with a Turner syndrome-affected fetus would be more likely to terminate the pregnancy, with an average termination rate of 76% (range: 33-100%). Seven studies (36.8%) 3,[8][9][10]18,20,22 reported a diagnosis of Klinefelter syndrome led parents to decide to terminate the pregnancy, yielding an average termination rate of 61% (range: 44-85%).…”

“…Inferential data: Among the reviewed studies that included inferential statistical analyses, four (21.1%) 7,24,25,27 also indicated Turner syndrome, Klinefelter syndrome, and 45,X mosaicism (a variation of Turner syndrome) were main factors associated with parental decisions to terminate an affected pregnancy. For example, Christian et al 7 examined 169 retrospective patient medical records of SCA diagnosis and found that Turner and Klinefelter syndromes exhibited a statistically significant association with pregnancy termination (P < 0.001).…”

“…Among the 13 studies, 11 3,10,14,17-19, 21,23,26-28 reported that 47,XXX (Triple X syndrome) was most likely to lead to an elective continuation of the pregnancy, with an average continuation rate of 68% (range: 50-100%). Eleven studies [8][9][10]14,17,19,21,23,[26][27][28] indicated that 47,XYY was also associated with a high likelihood for continuation of an affected pregnancy (with an average continuation rate of 68%: range, 50-100%).…”