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首页> 外文期刊>Journal of Clinical Medicine >Women’s Attitudes Regarding Prenatal Testing for a Range of Congenital Disorders of Varying Severity
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Women’s Attitudes Regarding Prenatal Testing for a Range of Congenital Disorders of Varying Severity

机译：妇女对于一系列严重程度不同的先天性疾病进行产前检查的态度

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Little is known about women’s comparative attitudes towards prenatal testing for different categories of genetic disorders. We interviewed women who delivered healthy infants within the past year and assessed attitudes towards prenatal screening and diagnostic testing, as well as pregnancy termination, for Down syndrome (DS), fragile X (FraX), cystic fibrosis (CF), spinal muscular atrophy (SMA), phenylketonuria (PKU) and congenital heart defects (CHD). Ninety-five women aged 21 to 48 years participated, of whom 60% were Caucasian, 23% Asian, 10% Latina and 7% African American; 82% were college graduates. Ninety-five to ninety-eight percent indicated that they would have screening for each condition, and the majority would have amniocentesis (64% for PKU to 72% for SMA). Inclinations regarding pregnancy termination varied by condition: Whereas only 10% reported they would probably or definitely terminate a pregnancy for CHD, 41% indicated they would do so for DS and 62% for SMA. Most women in this cohort reported that they would undergo screening for all six conditions presented, the majority without the intent to terminate an affected pregnancy. These women were least inclined to terminate treatable disorders (PKU, CHD) versus those associated with intellectual disability (DS, FraX) and were most likely to terminate for SMA, typically lethal in childhood.
机译：妇女对不同种类的遗传疾病进行产前检查的比较态度知之甚少。我们采访了在过去一年中分娩健康婴儿的妇女，并评估了他们对唐氏综合症（DS），脆性X（FraX），囊性纤维化（CF），脊髓性肌萎缩症（DS），产前筛查和诊断测试以及终止妊娠的态度（ SMA，苯丙酮尿症（PKU）和先天性心脏缺陷（CHD）。 95名年龄在21至48岁之间的妇女参加了其中，其中60％是白人，23％是亚洲人，10％是拉丁裔和7％是非裔美国人; 82％是大学毕业生。百分之九十五至百分之九十八表示他们将对每种疾病进行筛查，而大多数将进行羊膜穿刺术（PKU为64％，SMA为72％）。关于终止妊娠的意愿因条件而异：虽然只有10％的人报告可能或肯定会因CHD终止妊娠，但41％的人表示会为DS终止妊娠，而SMA的则为62％。该队列中的大多数妇女报告说，他们将接受筛查以检查所呈现的全部六个疾病，大多数妇女无意终止受影响的妊娠。与那些与智障相关的疾病（DS，FraX）相比，这些妇女最不愿意终止可治疗的疾病（PKU，CHD），最有可能因SMA终止治疗，而SMA通常在儿童期致命。

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