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首页> 外文期刊>The journal of maternal-fetal & neonatal medicine >Fetal brain anomalies detection during the first trimester: expanding the scope of antenatal sonography
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Fetal brain anomalies detection during the first trimester: expanding the scope of antenatal sonography

机译：胎儿脑异常检测在前妊娠中：扩大产前超声检查的范围

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Purpose: The purpose of this study was to describe fetal brain anomalies identified during nuchal translucency (NT) examination and their clinical management.Materials and methods: In this retrospective study, we evaluated charts of pregnant women performed the first trimester scan (FTS) between 1.1.2011 and 31.12.14 in a tertiary referral center. Study population consisted of 952 patients scheduled for routine NT scan for aneuploidy screening between 11.0 and 13.6 gestational weeks, and 32 referred patients due to suspicious CNS finding during previous NT scan. Targeted brain assessment was performed according to clinical judgment during routine scans and in all referred cases. Patients with suspicious CNS findings were referred to pregnancy termination or further evaluation including genetic consultation and second trimester anatomical scan.Results: Thirty-one fetuses were diagnosed with variable brain anomalies. Acrania/anencephaly was the most common defect (nine cases) while the rarest findings were inter-hemispheric cyst, microcephaly, and Walker-Warburg Syndrome (one case each). Genetic testing revealed variable results. Twenty-six (83.9%) couples decided to terminate their pregnancies.Conclusions: The current report highlights the evolving ability to detect CNS malformation during NT scan. FTS novel findings expand our embryological understanding of early fetal development. While severe anomalies can be managed by early termination, other defects necessitate comprehensive evaluation and repetitive imaging.
机译：目的：本研究的目的是描述颈脑半透明（NT）检查期间鉴定的胎儿脑异常及其临床管理。在此回顾性研究中，我们评估了孕妇的图表，进行了第一个三个月扫描（FTS）之间的孕妇1.1.2011和31.12.14在高等教育中心。研究人群由952名患者组成，该患者计划在11.0和13.6个妊娠周期间隔筛选的常规NT扫描中，并且32名引用患者由于先前的NT扫描期间发现可疑CNS。在常规扫描期间和所有转诊病例中，根据临床判断进行有针对性的脑评估。可疑CNS发现的患者称为妊娠终止或进一步评估，包括遗传咨询和第二孕孕孕扫描。结果：患有可变脑异常的三十一胎。 acrynia / encercephaly是最常见的缺陷（九种情况），而最稀有的发现是半球间囊肿，小术和Walker-Warburg综合征（每种情况）。基因检测显示可变结果。二十六（83.9％）夫妻决定终止其怀孕。结论：当前报告突出了在NT扫描期间检测到CNS畸形的不断变化的能力。 FTS小说发现扩大了我们对早期胎儿发育的胚胎学理解。虽然严重的异常可以通过早期终止来管理，但其他缺陷需要综合评估和重复成像。

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