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前脑无裂畸形:超声及磁共振成像产前诊断

Holoprosencephaly: prenatal diagnosis by sonography and magnetic resonance imaging.

作者信息

Tomà P, Costa A, Magnano G M, Cariati M, Lituania M

机构信息

Servizio di Radiologia, Instituto Giannina Gaslini, Genova, Italy.

出版信息

Prenat Diagn. 1990 Jul;10(7):429-36. doi: 10.1002/pd.1970100704.

DOI:10.1002/pd.1970100704
PMID:2235902
Abstract

Magnetic resonance (MR) imaging was performed on two women at the 33rd and 34th pregnancy week, respectively, after ultrasonographic detection of a brain malformation. Fetal neuromuscular blockade was induced by pancuronium bromide injected into the umbilical vein under continuous ultrasound (US) guidance. MR images supported the echotomographic diagnosis of holoprosencephaly, improving the image quality and offering additional information in such cases of difficult differential fetal diagnosis. Holoprosencephaly was finally confirmed by neonatal US and autopsy (case 1), US, CT and MR (case 2).

摘要

在超声检测到脑畸形后,分别对两名处于妊娠第33周和第34周的女性进行了磁共振(MR)成像检查。在持续超声(US)引导下,通过向脐静脉注射泮库溴铵诱导胎儿神经肌肉阻滞。MR图像支持了超声断层扫描对前脑无裂畸形的诊断,提高了图像质量,并为这种胎儿鉴别诊断困难的病例提供了额外信息。前脑无裂畸形最终通过新生儿超声和尸检(病例1)、超声、CT和MR(病例2)得以确诊。

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引用本文的文献

1
Fetal magnetic resonance imaging in obstetric practice.产科实践中的胎儿磁共振成像。
J Turk Ger Gynecol Assoc. 2011 Mar 1;12(1):39-46. doi: 10.5152/jtgga.2011.09. eCollection 2011.
2
Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.全前脑胎儿的分子评估显示,HPE基因的微缺失发生率很高。
Hum Genet. 2006 Mar;119(1-2):1-8. doi: 10.1007/s00439-005-0097-6. Epub 2005 Dec 2.