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对828例先天性多发性关节挛缩症患者妊娠并发症的回顾性研究。

A retrospective study of pregnancy complications among 828 cases of arthrogryposis.

作者信息

Fahy M J, Hall J G

机构信息

University of British Columbia, UBC Clinical Genetics Unit, Health Sciences Centre Hospital, Vancouver.

出版信息

Genet Couns. 1990;1(1):3-11.

PMID:2222919
Abstract

828 cases with multiple congenital contractures (arthrogryposis) were categorized and histories were reviewed to identify pregnancy complications. 53.0% of cases had a specified diagnosis or known cause and no diagnosis was found for 47.0% of which 27.2% were though to probably have a genetic basis and 19.8% were of unknown etiology. Our data provides no evidence to support the suggestion that arthrogryposis is frequently a result of environmental or structural causes including uterine structural anomaly, intra-uterine infection, etc. Normal frequencies of bleeding, hormone treatment during gestation, amniotic fluid leakage, uterine anomaly, maternal illness, and maternal and paternal age were noted. Apparent, increased frequencies of twinning, severe nausea, polyhydramnios and oligohydramnios were observed. In particular, the frequency of polyhydramnios was dramatically increased among lethal cases (vs survivors) and thus, polyhydramnios appears to be a poor prognostic sign when associated with decreased fetal movement. Large case control studies with complete pregnancy histories are needed to confirm these results and to definitively identify pregnancy complications that are useful "flags" to indicate decreased fetal movement in utero and thus, aid in the identification of primary causes of arthrogryposis.

摘要

对828例多发性先天性挛缩(关节挛缩症)病例进行分类,并回顾病史以确定妊娠并发症。53.0%的病例有明确诊断或已知病因,47.0%未发现诊断结果,其中27.2%被认为可能有遗传基础,19.8%病因不明。我们的数据没有证据支持关节挛缩症常由环境或结构原因导致的观点,这些原因包括子宫结构异常、宫内感染等。记录了出血、孕期激素治疗、羊水渗漏、子宫异常、母体疾病以及母体和父体年龄的正常发生率。明显观察到双胎妊娠、严重恶心、羊水过多和羊水过少的发生率增加。特别是,致死性病例(与存活者相比)中羊水过多的发生率显著增加,因此,当羊水过多与胎动减少相关时,似乎是一个不良预后指标。需要进行有完整妊娠史的大型病例对照研究来证实这些结果,并明确确定妊娠并发症,这些并发症是有用的“标志”,可指示子宫内胎动减少,从而有助于确定关节挛缩症的主要病因。

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