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超声检查显示颅内征象正常的脊髓脊膜膨出,羊水甲胎蛋白和乙酰胆碱酯酶检测呈假阴性。

A meningomyelocele with normal intracranial signs on ultrasound and false-negative amniotic fluid alpha-fetoprotein and acetylcholinesterase.

作者信息

Yoon Chong Hyeok, Kang Sang Kyu, Jin Chan Hee, Park Moon Sun, Rho Jeong Hoon

机构信息

Department of Obstetrics and Gynecology, Eulji University Medical Center, Eulji University College of Medicine, Daejeon, Korea.

Department of Neurosurgery, Eulji University Medical Center, Eulji University College of Medicine, Daejeon, Korea.

出版信息

Obstet Gynecol Sci. 2014 May;57(3):223-7. doi: 10.5468/ogs.2014.57.3.223. Epub 2014 May 15.

DOI:10.5468/ogs.2014.57.3.223
PMID:24883294
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4038689/
Abstract

Neural tube defects are the major targets of prenatal diagnoses, along with Down syndrome. Prenatal diagnosis of spina bifida is possible at second trimester of gestation through α-fetoprotein and acetylcholinesterase biochemistry assays and ultrasound. In particular, the discovery of characteristic intracranial signs on ultrasound leads to a very high diagnosis rate. However, it is rare for spina bifida to present without intracranial signs while also showing normal values of maternal serum α-fetoprotein, amniotic fluid α-fetoprotein, and acetylcholinesterase. In our hospital, a fetus with spina bifida was delivered at 37+5 weeks' gestation by cesarean section, and was continually followed up over 2 years to date.

摘要

神经管缺陷与唐氏综合征一样,是产前诊断的主要对象。妊娠中期可通过甲胎蛋白和乙酰胆碱酯酶生化检测及超声对脊柱裂进行产前诊断。特别是,超声检查发现特征性颅内体征可使诊断率非常高。然而,脊柱裂在无颅内体征且母体血清甲胎蛋白、羊水甲胎蛋白和乙酰胆碱酯酶值均正常的情况下出现的情况很少见。在我院,一名患有脊柱裂的胎儿于妊娠37 + 5周时剖宫产分娩,至今已持续随访2年。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3773/4038689/dfbbf161f003/ogs-57-223-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3773/4038689/fe2798be912e/ogs-57-223-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3773/4038689/dfbbf161f003/ogs-57-223-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3773/4038689/fe2798be912e/ogs-57-223-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3773/4038689/dfbbf161f003/ogs-57-223-g002.jpg

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本文引用的文献

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Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study.绒毛膜绒毛取样和羊膜穿刺术后的胎儿丢失率:一项 11 年的全国登记研究。
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Neural tube defects: prevalence, etiology and prevention.神经管缺陷:患病率、病因及预防
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ACOG practice bulletin. Neural tube defects. Number 44, July 2003. (Replaces committee opinion number 252, March 2001).美国妇产科医师学会实践公告。神经管缺陷。第44号,2003年7月。(取代2001年3月的委员会意见第252号)
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Lumbosacral lipomas: in utero diagnosis and prognosis.腰骶部脂肪瘤:宫内诊断与预后
Childs Nerv Syst. 2003 Aug;19(7-8):551-4. doi: 10.1007/s00381-003-0777-2. Epub 2003 Jun 19.
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Route of delivery of fetuses with structural anomalies.患有结构异常胎儿的分娩途径。
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