超声产前诊断先天性无晶状体：病例报告
Ultrasound prenatal diagnosis of congenital primary aphakia: case report.
作者信息
Di Meglio Filippo, Vascone Carmine, Di Meglio Letizia, Turco Luigi Carlo Lo, Vitale Salvatore Giovanni, Cignini Pietro, Valenti Gaetano, Gulino Ferdinando Antonio, Rapisarda Agnese Maria Chiara, Cianci Stefano
机构信息
Department of Ginecological-Obstetrical Sciences and Urological Sciences, "Sapienza" University of Rome, Rome, Italy.
Department of Woman, Child and General and Specialistics Surgery, II University of Naples, Naples, Italy.
出版信息
J Prenat Med. 2015 Jan-Jun;9(1-2):16-7. doi: 10.11138/jpm/2015.9.1.016.
INTRODUCTION
the ultrasound prenatal diagnosis of aphakia is a difficult diagnosis and often requires a genetic study of the karyotype.
CASE REPORT
we present a rare case of prenatal bilateral aphakia, confirmed after bird. The patient was observed by ultrasound during the 23rd week of pregnancy. Through transabdominal ultrasound the lens could not be visualized bilaterally. The remaining anathomy, explorable by ultrasound, was still regular. When aphakia is suspected, genetic counseling is essential.
CONCLUSION
a differential diagnosis between aphakia and anophtalmia is necessary. A TORCH complex evaluation can be useful. Amniocentesis is always required.
引言
超声产前诊断无晶状体是一项困难的诊断，通常需要进行核型的遗传学研究。
病例报告
我们呈现一例罕见的产前双侧无晶状体病例，产后得到证实。该患者在妊娠第23周时接受了超声检查。经腹部超声检查，双侧均无法看到晶状体。超声可检查的其余解剖结构仍正常。当怀疑有无晶状体时，遗传咨询至关重要。
结论
有必要鉴别无晶状体和无眼球。TORCH综合征评估可能有用。总是需要进行羊膜穿刺术。
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