Shaw Sheng-Wen, Chueh Ho-Yen, Chang Shuenn-Dyh, Cheng Po-Jen, Hsieh T'sang-T'ang, Soong Yung-Kuei
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, Tao-Yuan, Taiwan.
Aust N Z J Obstet Gynaecol. 2008 Apr;48(2):155-9. doi: 10.1111/j.1479-828X.2008.00828.x.
To analyse parental decisions regarding pregnancies with sex chromosome abnormalities (SCA).
Collected and reviewed records from our hospital for 1991-2005. Genetic counselling was provided by obstetricians or perinatologists.
Among 57 fetuses with SCA were 36 non-mosaic cases (four of 36, 45,X; 12 of 36, 47,XXY; seven of 36, 47,XYY, 13 of 36, 47,XXX) and 21 mosaic cases (15 of 21, 45,X mosaicism). Only 20% of 45,X mosaic pregnancies were continued, whereas all other mosaic pregnancies (100%) were continued (P = 0.004). Of 32 SCA cases counselled by a perinatologist, 66% (21 of 32) were continued. In contrast, 36% (nine of 25) of cases counselled by a general obstetrician were continued, a barely significant difference (P = 0.048). More couples chose to continue pregnancies in recent years.
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.
分析父母对于性染色体异常（SCA）妊娠的决策。
收集并回顾我院1991 - 2005年的记录。由产科医生或围产医学专家提供遗传咨询。
在57例性染色体异常胎儿中，36例为非嵌合型（36例中的4例，45,X；36例中的12例，47,XXY；36例中的7例，47,XYY；36例中的13例，47,XXX），21例为嵌合型（21例中的15例，45,X嵌合体）。45,X嵌合型妊娠中只有20%继续妊娠，而所有其他嵌合型妊娠（100%）都继续妊娠（P = 0.004）。在由围产医学专家咨询的32例性染色体异常病例中，66%（32例中的21例）继续妊娠。相比之下，由普通产科医生咨询的病例中有36%（25例中的9例）继续妊娠，差异无统计学意义（P = 0.048）。近年来，更多夫妇选择继续妊娠。
由训练有素的专家进行遗传咨询很有价值，而且我们中心终止妊娠减少的趋势表明父母对与性染色体异常相关的病理学知识有所提高。
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