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孤立性胎儿马蹄内翻足的结局:系统评价和荟萃分析。

Outcome of isolated fetal talipes: A systematic review and meta-analysis.

机构信息

Department of Maternal and Child Health and Urological Sciences, Sapienza University, Rome, Italy.

Department of Obstetrics and Gynecology, University of Chieti, Chieti, Italy.

出版信息

Acta Obstet Gynecol Scand. 2019 Nov;98(11):1367-1377. doi: 10.1111/aogs.13637. Epub 2019 Jun 6.

Abstract

INTRODUCTION

The aim of this systematic review was to explore the outcome of fetuses with a prenatal diagnosis of isolated talipes.

MATERIAL AND METHODS

Medline, Embase, Cinahl, and Clinicaltrials.gov databases were searched. The outcomes explored were: associated anomalies detected at follow-up ultrasound examination; fetal magnetic resonance imaging (MRI) and birth; chromosomal abnormalities detected with standard and chromosomal microarray analysis, intrauterine, neonatal, and perinatal death, and termination of pregnancy; rate of surgical and nonsurgical treatment; neurodevelopmental outcome; and false-positive rate of prenatal diagnosis. Meta-analyses of proportions were used to combine data.

RESULTS

Twenty-five studies (1567 fetuses) were included. Associated anomalies were detected in 7.8% (95% CI 0.1%-29.3%) of cases at follow-up ultrasound, and in 4.0% (95% CI 0.1%-13.2%) of cases, fetal MRI identified anomalies not detected at ultrasound assessment. Similarly, 7.0% (95% CI 3.4%-11.7%) of cases labeled as isolated talipes on prenatal imaging were found to have associated anomalies at birth. Abnormal karyotype was present in 3.6% (95% CI 1.7%-6.2%) of fetuses, whereas no anomaly was found at chromosomal microarray analysis, although this outcome was reported by only 1 study. Intrauterine death occurred in 0.99% (95% CI 0.4%-1.9%) of fetuses, whereas the corresponding figures for neonatal death and termination of pregnancy were 1.5% (95% CI 0.6%-2.6%) and 2.2% (95% CI 1.2%-3.4%), respectively. Surgical management of anomalies after birth was found in 41.7% (95% CI 27.0%-57.2%) of fetuses with isolated talipes, and 54.8% (95% CI 31.5%-77.0%) had nonsurgical management of the anomalies after birth. Abnormal neurodevelopmental outcome was reported in 7.6% (95% CI 1.0%-19.4%) of children, although this analysis was affected by the small number of included cases and short time of follow up.

CONCLUSIONS

Isolated talipes detected on prenatal ultrasound carries a generally good prognosis. The incidence of additional abnormalities detected on fetal MRI, aneuploidy, or neurodevelopmental disability is relatively low. However, longitudinal ultrasound assessment during pregnancy and a thorough postnatal evaluation are recommended to rule out associated anomalies that may significantly impact short- and long-term prognosis.

摘要

简介

本系统综述的目的是探讨产前诊断为孤立性马蹄内翻足胎儿的结局。

材料与方法

检索了 Medline、Embase、Cinahl 和 Clinicaltrials.gov 数据库。探索的结局包括:在后续超声检查中发现的相关异常;胎儿磁共振成像(MRI)和分娩;通过标准和染色体微阵列分析发现的染色体异常、宫内、新生儿和围产儿死亡以及妊娠终止;手术和非手术治疗率;神经发育结局;以及产前诊断的假阳性率。使用比例的荟萃分析来合并数据。

结果

纳入了 25 项研究(1567 例胎儿)。在后续超声检查中,7.8%(95%CI 0.1%-29.3%)的病例和 4.0%(95%CI 0.1%-13.2%)的病例中发现了相关异常,胎儿 MRI 发现了超声评估未发现的异常。同样,产前影像学检查标记为孤立性马蹄内翻足的 7.0%(95%CI 3.4%-11.7%)的病例在分娩时发现有相关异常。异常核型的发生率为 3.6%(95%CI 1.7%-6.2%),而染色体微阵列分析未发现异常,但仅有 1 项研究报告了这一结果。宫内胎儿死亡的发生率为 0.99%(95%CI 0.4%-1.9%),而新生儿死亡和终止妊娠的相应数字分别为 1.5%(95%CI 0.6%-2.6%)和 2.2%(95%CI 1.2%-3.4%)。在孤立性马蹄内翻足胎儿中,有 41.7%(95%CI 27.0%-57.2%)在出生后接受了畸形的手术治疗,有 54.8%(95%CI 31.5%-77.0%)在出生后接受了畸形的非手术治疗。有 7.6%(95%CI 1.0%-19.4%)的儿童报告了异常的神经发育结局,但这项分析受到纳入病例数量少和随访时间短的影响。

结论

产前超声检查发现的孤立性马蹄内翻足通常预后良好。在胎儿 MRI 上发现的额外异常、非整倍体或神经发育障碍的发生率相对较低。然而,建议在怀孕期间进行纵向超声评估,并进行彻底的产后评估,以排除可能对短期和长期预后有重大影响的相关异常。

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