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首页> 外文期刊>Prenatal Diagnosis >Fetal liver hyperechogenicity on sonography may be a serendipitous sign of a transient myeloproliferating disorder.
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Fetal liver hyperechogenicity on sonography may be a serendipitous sign of a transient myeloproliferating disorder.

机译：超声检查对胎儿肝脏的超强回声性可能是短暂性骨髓增生性疾病的偶然迹象。

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OBJECTIVE: To demonstrate that thorough antenatal and postnatal investigations are helpful in any genetic syndrome. CASE REPORT: A woman without a specific risk had a finding of hyperechogenic foci at ultrasound. Karyotype on fetal blood was 47, XY+21 and extensive biochemical investigation revealed abnormal liver function. Given the suspicion of a coincidental hepatic compromise, targeted postmortem examination was performed, which showed hepatic fibrosis, megakaryocytes proliferation and invasion of sinusoid capillaries, all suggestive of a transient myeloproliferative disorder. CONCLUSION: When compared with chorionic villous and amniotic fluid sampling, fetal blood allows the collection of additional data, which may help in understanding the pathological process behind an apparently serendipitous association.
机译：目的：证明彻底的产前和产后检查对任何遗传综合症都有帮助。病例报告：没有特殊危险的女性在超声检查中发现了高回声灶。胎儿血液的核型为47，XY + 21，广泛的生化检查显示肝功能异常。由于怀疑是偶然发生的肝损害，因此进行了有针对性的验尸检查，结果显示肝纤维化，巨核细胞增殖和窦性毛细血管浸润，均提示短暂性骨髓增生性疾病。结论：与绒毛膜绒毛和羊水取样相比，胎儿血液可以收集更多数据，这可能有助于了解明显的偶然性关联背后的病理过程。

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