Role of Maternal Serum Alpha-Fetoprotein and Ultrasonography in Contemporary Detection of Spina Bifida.

Role of Maternal Serum Alpha-Fetoprotein and Ultrasonography in Contemporary Detection of Spina Bifida.
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母体血清甲胎蛋白和超声检查在当代脊柱裂检测中的作用。

DOI:
10.1055/s-0035-1562930
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发表时间:
2015
影响因子:
2
通讯作者:
Aagaard,KjerstiM
Aagaard,KjerstiM
中科院分区:
医学4区
文献类型:
--
作者:
Racusin,DianaA;Villarreal,Sarah;Antony,KathleenM;Harris,RAlan;Mastrobattista,Joan;Lee,Wesley;Shamshirsaz,AlirezaA;Belfort,Michael;Aagaard,KjerstiM

文献摘要

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目的探讨妊娠中期孕妇血清甲胎蛋白(MSAFP)及超声检查对脊柱裂的筛查作用。随着游离DNA (cfDNA)摄取的增加和妊娠早期筛查,MSAFP水平可能不再常规获得。我们的目的是评估小儿神经外科转诊中心的脊柱裂病例数据库,以确定产前检出率和诊断方法。研究设计:巢式病例系列纳入2007 - 2013年出生后转介的所有脊柱裂病例。从产妇记录中提取数据,并确定MSAFP和超声筛查的产前检出率。结果105例产后转诊病例中,11.4%(12/105)在分娩前未确诊。总体而言,39%的病例进行了MSAFP筛查。超声检测脊柱裂的优势比为4.9(95%可信区间为2-11.9)。在发现的新生儿病例中,100%接受了产前护理,91.6%(12例中的11例)进行了超声检查。结论11.4%的脊柱裂在分娩前未被发现。12例产前遗漏的脊柱裂中有9例未使用MSAFP进行筛查。我们的研究结果支持中期MSAFP筛查结合超声评估的方法。我们推测MSAFP产前筛查未得到充分利用。
ObjectiveMidtrimester maternal serum alpha-fetoprotein (MSAFP) and sonographic evaluation have been used to screen for spina bifida. With the increased uptake of cell-free DNA (cfDNA) and first trimester screening, MSAFP levels may no longer be obtained routinely. Our aim was to evaluate a pediatric neurosurgical referral center database of spina bifida cases to determine the antenatal detection rate and means of diagnosis.Study DesignNested case series of all spina bifida cases referred postnatally from 2007 to 2013. Data were abstracted from the maternal record and rates of antenatal detection with MSAFP and sonographic screening were determined.ResultsOf the 105 postnatally referred cases, 11.4% (12/105) were not identified until delivery. Overall, 39% of the cases had MSAFP screening. The odds ratio for sonogram-based detection of spina bifida was 4.9 (95% confidence interval, 2–11.9). Of the neonatally detected cases, 100% had prenatal care and 91.6% (11 of the 12 cases) had documented sonography.ConclusionWe have found that 11.4% of the spina bifida cases were not detected before delivery. Nine out of the 12 cases of antenatally missed spina bifida were not screened using MSAFP. Our findings support the approach of midtrimester MSAFP screening combined with sonographic evaluation. We speculate that prenatal screening with MSAFP is underutilized.