全球精选文摘 - 对750例胎儿死亡进行评估后的细胞遗传学分析：关于诊断性病情检查的建议

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对750例胎儿死亡进行评估后的细胞遗传学分析：关于诊断性病情检查的建议

Cytogenetic Analysis After Evaluation of 750 Fetal Deaths: Proposal for Diagnostic Workup

Korteweg FJ, Bouman K, Erwich JJHM 2009/10/16 10:07:44

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Obstet Gynecol, 2008,

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Objective:
To estimate success rates for cytogenetic analysis in different tissues after intrauterine fetal death, and study selection criteria and value of cytogenetic testing in determining cause of death.

Methods:
Cytogenetic analyses and the value of this test in determining cause by a multidisciplinary panel were studied in 750 fetal deaths. Morphologic abnormalities, small for gestational age (SGA), advanced maternal age (older than 35 years) and maceration were studied as selection criteria.

Results:
Chromosomal abnormalities were observed in 13% of fetal deaths. Cytogenetic success rates were significantly higher for invasive testing (85%) than for postpartum tissue analysis (28%, P<.001). There were more abnormal chromosomes (38%) in fetal deaths with morphologic abnormalities than in those without (5%, P<.001). This was not observed for SGA (16% compared with 9.2%, P=.22) or for advanced maternal age (16.7% compared with 12.0%, P=.37). The posterior probability of a chromosomal abnormality in the absence of morphologic abnormalities was still 4.6%. Cytogenetic analysis was successful in 35% of severely macerated fetuses. We do not advise using these selection criteria, because the failure rate was high on postpartum tissues. Cytogenetic analysis was valuable in determining the cause in 19% of the fetal deaths.

Conclusion:
Parents should be counseled on aspects of cytogenetic analysis after fetal death. We advise performing nonselective invasive testing after fetal death and before labor for all fetal deaths.

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疾病资源中心

高血压	慢性阻塞性肺病
脂肪性肝病	糖尿病
卒中	肺癌
冠心病	子宫内膜异位症
结直肠癌	乳腺癌
心力衰竭	心律失常

病例分析 [栏目介绍]

甲状腺功能亢进合并黄疸

王燕燕王曙

上海交通大学附属瑞金医院内分泌科

患者，女，69岁。2009年1月无明显诱因下出现乏力，当时程度较轻，未予以重视。2009年3月患者乏力症状加重，尿色逐渐加深，大便习惯改变，颜色变淡。4月18日入我院感染科治疗，诉轻度头晕、心慌，体重减轻10kg。无肝区疼痛，无发热，无腹痛、腹泻、腹胀、里急后重，无恶性、呕吐等。入院半月前于外院就诊，查肝功能：ALT 601IU/L，AST 785IU/L，TBIL 97.7umol/L，白蛋白 41g/L，甲状腺功能：游离T3 30.6pmol/L，游离T4 51.9pmol/L，心电图示快速房颤。

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