Department of Maternal and Child Health and Urological Sciences, Sapienza University, Rome, Italy.
Department of Obstetrics and Gynecology, University of Chieti, Chieti, Italy.
Acta Obstet Gynecol Scand. 2019 Nov;98(11):1367-1377. doi: 10.1111/aogs.13637. Epub 2019 Jun 6.
The aim of this systematic review was to explore the outcome of fetuses with a prenatal diagnosis of isolated talipes.
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.
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.
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.
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。
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。
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。
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。
