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过去七年中囊性纤维化产前诊断的应用情况。

Utilization of prenatal diagnosis for cystic fibrosis over the past seven years.

作者信息

Jedlicka-Köhler I, Götz M, Eichler I

机构信息

University Children's Hospital, Vienna, Austria.

出版信息

Pediatrics. 1994 Jul;94(1):13-6.

PMID:8008524
Abstract

OBJECTIVE

First trimester prenatal diagnosis (PD) by DNA analysis for cystic fibrosis (CF) has been available for parents of affected children since May 1986.

METHODS

In a prospective study 37 couples with a single child affected by CF were investigated. Fathers and mothers were interviewed simultaneously, and their attitudes towards further childbearing and potential utilization of PD ascertained. Parental answers were treated as one. A 7-year follow-up allowed comparison between intended and actual behavior.

RESULTS

At the time of the interview, 16 parents (43%) were determined to have further children. Nineteen parents (51%) said they would certainly or probably utilize PD in case of pregnancy. Their predominant reason for favoring PD was the strong desire to have a healthy child (47%). Among the 18 rejectors (49%) the fear of an unsolvable conflict in case of an affected fetus prevailed (39%). Twenty-four pregnancies actually occurred in 18 families. Utilization of PD was arranged in five (21%) and finally performed in four (17%) cases.

CONCLUSION

Availability of PD does not substantially change the reproductive behavior of parents of children with CF. Reasons for this were multifactorial, with anticipated difficulty in deciding to continue or terminate pregnancy being predominant.

摘要

目的

自1986年5月起,通过对囊性纤维化(CF)进行DNA分析,可为患有CF病儿童的父母提供孕早期产前诊断(PD)。

方法

在一项前瞻性研究中,对37对有一个患CF病孩子的夫妇进行了调查。同时对父亲和母亲进行访谈,确定他们对再次生育以及PD潜在应用的态度。将父母的回答视为一个整体。进行了7年的随访,以便比较预期行为和实际行为。

结果

在访谈时,16位父母(43%)决定再要孩子。19位父母(51%)表示如果怀孕,他们肯定或可能会使用PD。他们倾向于使用PD的主要原因是强烈希望生一个健康的孩子(47%)。在18位拒绝者(49%)中,担心如果胎儿患病会出现无法解决的冲突占主导(39%)。18个家庭实际发生了24次怀孕。安排了5例(21%)使用PD,最终4例(17%)进行了PD。

结论

PD的可获得性并没有实质性改变CF病患儿父母的生育行为。原因是多方面的,其中在决定继续妊娠还是终止妊娠时预期的困难占主导。

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Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening.
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Eur J Hum Genet. 2010 Oct;18(10):1084-9. doi: 10.1038/ejhg.2010.78. Epub 2010 May 26.
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Attitudes toward cystic fibrosis carrier and prenatal testing and utilization of carrier testing among relatives of individuals with cystic fibrosis.对囊性纤维化携带者的态度、产前检测以及囊性纤维化患者亲属中携带者检测的利用情况。
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