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胎儿染色体异常产前诊断后的父母决策。

Parental decision following prenatal diagnosis of fetal chromosome abnormality.

作者信息

Verp M S, Bombard A T, Simpson J L, Elias S

机构信息

Department of Obstetrics and Gynecology, University of Chicago, Illinois 60637.

出版信息

Am J Med Genet. 1988 Mar;29(3):613-22. doi: 10.1002/ajmg.1320290320.

Abstract

In the event of prenatal diagnosis of fetal chromosome abnormality, parents must choose between continuation and termination of the pregnancy. To determine whether parents are capable of understanding differences in severity among aneuploidy syndromes, we examined the outcome chosen for all pregnancies in which a fetal chromosome disorder was diagnosed at Northwestern Memorial Hospital between January, 1977 and June, 1986. Among amniocentesis cases, 88% with autosomal aneuploidy were terminated, but only 41% with sex chromosome abnormalities and none with de novo structural rearrangements were terminated. Among a smaller group of chorionic villus sampling cases, all with abnormal results were terminated. Similar patterns of parental behavior were noted in other prenatal diagnosis units. We conclude that parents do distinguish among, and respond specifically to, fetal chromosome disorders of differing severity, at least in the second trimester of pregnancy. However, parents appear more inclined to terminate all pregnancies with chromosome abnormalities when the diagnosis has been made in the first trimester.

摘要

如果产前诊断出胎儿染色体异常,父母必须在继续妊娠和终止妊娠之间做出选择。为了确定父母是否能够理解非整倍体综合征严重程度的差异,我们研究了1977年1月至1986年6月在西北纪念医院诊断出胎儿染色体疾病的所有妊娠的选择结果。在羊水穿刺病例中,88%的常染色体非整倍体妊娠被终止,但只有41%的性染色体异常妊娠被终止,而新发结构重排的妊娠无一被终止。在一小群绒毛取样病例中,所有结果异常的妊娠均被终止。在其他产前诊断单位也发现了类似的父母行为模式。我们得出结论,至少在妊娠中期,父母确实能够区分不同严重程度的胎儿染色体疾病,并做出特定反应。然而,当在妊娠早期做出诊断时,父母似乎更倾向于终止所有染色体异常的妊娠。

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