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特发性羊水过多的遗传学意义

Genetic implications of idiopathic hydramnios.

作者信息

Landy H J, Isada N B, Larsen J W

出版信息

Am J Obstet Gynecol. 1987 Jul;157(1):114-7. doi: 10.1016/s0002-9378(87)80358-7.

DOI:10.1016/s0002-9378(87)80358-7
PMID:3300341
Abstract

The antenatal diagnosis of hydramnios requires a careful search for associated underlying maternal or fetal conditions. Even in pregnancies associated with idiopathic hydramnios in which no underlying condition can be identified, a high perinatal mortality rate exists. Although trisomy 18 has been seen in pregnancies with hydramnios and growth retardation, the association with specific chromosomal disorders and idiopathic hydramnios has not been well defined. A review of pregnancies complicated by hydramnios was undertaken; 99 cases with complete pregnancy and delivery information were identified. Fifty-nine pregnancies were complicated by idiopathic hydramnios, and except for the hydramnios, sonographic evaluation was normal. Delivery information revealed one infant with trisomy 18 and eight infants with structural anomalies not appreciated antenatally. Of the undiagnosed malformations, 25% are frequently associated with trisomy 21. We recommend fetal chromosomal analysis as an adjunct to the evaluation of pregnancies complicated by idiopathic hydramnios.

摘要

羊水过多的产前诊断需要仔细查找相关的潜在母体或胎儿疾病。即使在与特发性羊水过多相关的妊娠中,无法确定潜在疾病,围产期死亡率也很高。虽然18三体在羊水过多和生长受限的妊娠中可见,但与特定染色体疾病和特发性羊水过多的关联尚未明确界定。对并发羊水过多的妊娠进行了回顾;确定了99例有完整妊娠和分娩信息的病例。59例妊娠并发特发性羊水过多,除羊水过多外,超声评估正常。分娩信息显示1例婴儿患有18三体,8例婴儿有产前未发现的结构异常。在未诊断出的畸形中,25%常与21三体相关。我们建议对并发特发性羊水过多的妊娠进行胎儿染色体分析作为评估的辅助手段。

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1
Genetic implications of idiopathic hydramnios.特发性羊水过多的遗传学意义
Am J Obstet Gynecol. 1987 Jul;157(1):114-7. doi: 10.1016/s0002-9378(87)80358-7.
2
The ultrasound triad of fetal hydramnios, abnormal hand posturing, and any other anomaly predicts autosomal trisomy.胎儿羊水过多、手部姿势异常及任何其他异常的超声三联征可预测常染色体三体性。
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Diagnosis of polyhydramnios in early gestation: indication for prenatal diagnosis?孕早期羊水过多的诊断:产前诊断的指征?
Prenat Diagn. 1991 Aug;11(8):649-54. doi: 10.1002/pd.1970110824.
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A review of idiopathic hydramnios and pregnancy outcomes.特发性羊水过多及其妊娠结局的综述。
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Genomic abnormalities in apparently isolated polyhydramnios and the role of confirmed fetal phenotype: a systematic review and meta-analysis.在明显孤立性羊水过多症中出现的基因组异常,以及确认的胎儿表型的作用:系统评价和荟萃分析。
Am J Obstet Gynecol MFM. 2024 Oct;6(10):101469. doi: 10.1016/j.ajogmf.2024.101469. Epub 2024 Aug 22.
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Hydramnios: ultrasound diagnosis and its impact on perinatal management and pregnancy outcome.羊水过多:超声诊断及其对围产期管理和妊娠结局的影响。
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Hydramnios: anomaly prevalence and sonographic detection.羊水过多:异常患病率及超声检测
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[Clinical features of abnormal chromosome karyotypes in twin pregnancies complicated with structural abnormalities].双胎妊娠合并结构异常染色体核型异常的临床特征
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First-trimester sonographic findings in trisomy 18: a review of 53 cases.18 三体综合征的早孕期超声表现:53 例病例回顾。
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Pediatr Cardiol. 2020 Jan;41(1):155-164. doi: 10.1007/s00246-019-02239-4. Epub 2019 Nov 25.
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Polyhydramnios: Causes, Diagnosis and Therapy.羊水过多:病因、诊断与治疗
Geburtshilfe Frauenheilkd. 2013 Dec;73(12):1241-1246. doi: 10.1055/s-0033-1360163.