本中心诊断为胎儿神经管缺陷的妊娠评估

M. Obut, Özge Yücel Çelik, B. Kahveci, M. Kaya, Ayşe Keleş, Neval Çayönü Kahraman, Ö. Arat, A. Çağlar
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引用次数: 0

摘要

目的:探讨胎儿神经管缺陷(NTDs)的危险因素、染色体异常及其他异常。材料与方法:检索2016年1月至2020年8月诊断为胎儿NTD的胎儿NTD的医院数据库数据。只有在终止妊娠后确诊并进行基因检测的患者才被纳入研究。获得患者的家族史和产前史,包括产妇年龄、受教育程度、糖尿病、致畸药物暴露、吸烟、孕早期或孕早期叶酸摄入、有无先天性异常的兄弟姐妹、亲属关系、AFP mom(甲胎蛋白,中位数的倍数)。此外,还记录了ntd的类型和水平以及其他异常。使用23.0版本(SPSS Inc., Chicago, IL, USA)对数据进行评估。结果:研究期间,符合研究标准的患者共68例纳入研究。共有27例诊断为脊柱裂,24例诊断为无脑畸形,17例诊断为脑膨出。NTDs导致的畸形多为脑积水和马蹄内翻。染色体异常检出率最高的是13三体(3 / 7),其次是唇腭裂(4 / 5.88%)。妊娠期糖尿病见于12/68的胎儿NTD。结论胎儿ntd的附加异常和染色体异常发生率高。因此,对NTD胎儿进行详细的超声检查和基因检测是必要的。妊娠合并妊娠DM可增加胎儿NTD的风险。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Evaluations of Pregnancies Diagnosed with Fetal Neural Tube Defects in Our Center
Objective: To evaluate the risk factors, chromosomal abnormalities and additional anomalies of cases diagnosed with fetal neural tube defects (NTDs). Material and Method: The data of cases diagnosed with fetal NTDs between January 2016 and August 2020 with fetal NTD were retrieved from the hospital database. Only patients whose diagnosis confirmed after pregnancy termination and have a genetic test were included in the study.  The family and antenatal history of patients included maternal age, maternal education level, diabetes mellitus, exposed to teratogenic drugs, smoking, and folic acid intake before or during the first trimester, siblings with a congenital abnormality, consanguinity, and AFP MOMs (alpha-fetoprotein, multiple of median) was obtained. Also, the type and level of NTDs and additional anomalies were noted. The data were evaluated using version 23.0 (SPSS Inc., Chicago, IL, USA). Results: During the study period, a total of 68 patients who met the study criteria were included in the study. A total of 27 patients diagnosed with spina bifida, 24 patients with anencephaly and 17 patients with encephalocele. The most anomalies resulted from NTDs was hydrocephaly and pes equinovarus. The most detected chromosomal abnormality was trisomy 13 (3 out of 7), and the most additional anomaly was the cleft lip and palate and detected in 4 (5.88%) patients. Pregestational DM was seen in 12/68 of pregnancies with fetal NTD. Conclusions The rate of additional anomalies and chromosomal abnormalities in cases diagnosed with fetal NTDs is high. Thus, a detailed ultrasonographic examination and genetic tests of fetuses with NTD is essential. The pregnancies complicated with pregestational DM have an increased risk for fetal NTD.
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