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产前超声检查发现的先天性马蹄内翻足的诊断准确性、检查方法和结局。

Diagnostic accuracy, work-up, and outcomes of pregnancies with clubfoot detected by prenatal sonography.

机构信息

Department of Obstetrics and Gynecology, Meir Medical Center, Kfar Saba, Israel.

Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

出版信息

Prenat Diagn. 2017 Aug;37(8):754-763. doi: 10.1002/pd.5077. Epub 2017 Jul 18.

DOI:10.1002/pd.5077
PMID:28568170
Abstract

OBJECTIVE

To assess diagnostic accuracy, related findings, and outcomes of fetuses with clubfoot.

METHODS

Sonographic characteristics, pregnancy work-up, and postnatal outcomes were evaluated in 109 fetuses with clubfoot.

RESULTS

Among 40 320 prenatal ultrasound anomaly scans, clubfoot was diagnosed in 150 (0.37%). Analysis included 108 pregnancies (72%) with 109 fetuses. Bilateral clubfoot was diagnosed in 51/109 (46.7%) fetuses and unilateral in 58/109 (53.2%). Clubfoot was diagnosed as an isolated anomaly in 76/109 (69.7%) and complex in 33/109 (30.2%). Amniocentesis or chorionic villus sampling in 48/109 (44%) yielded 6 (12.5%) with abnormalities (5.5% of the entire cohort). Diagnosis was confirmed in 65/91 (71.4%) liveborn infants. In singletons, 7/63 (11.1%) cases considered isolated on ultrasound had additional anomalies postpartum and 8/14 (57.1%) complex cases were verified after birth. Sonographic diagnosis of clubfoot was verified postpartum in more singletons than twins (p = 0.05). Bilateral clubfoot was verified postpartum more often than unilateral [29/33 (87.9%) vs. 29/44 (65.9%), respectively; p = 0.03]. Bilateral clubfoot resulted in additional prenatal testing without increased likelihood of finding additional anomalies and was associated with more surgical interventions postnatally.

CONCLUSIONS

Prenatal ultrasound diagnosis of clubfoot is more accurate in singletons with bilateral findings. Bilateral findings do not increase the likelihood of additional anomalies. Karyotyping should be considered even with isolated clubfoot. © 2017 John Wiley & Sons, Ltd.

摘要

目的

评估先天性马蹄内翻足胎儿的诊断准确性、相关发现和结局。

方法

对 109 例先天性马蹄内翻足胎儿的超声特征、妊娠检查和产后结局进行评估。

结果

在 40320 例产前超声异常扫描中,诊断出 150 例(0.37%)先天性马蹄内翻足。分析包括 108 例妊娠(72%)和 109 例胎儿。51/109(46.7%)胎儿为双侧先天性马蹄内翻足,58/109(53.2%)为单侧。76/109(69.7%)为单纯性畸形,33/109(30.2%)为复杂性畸形。48/109(44%)行羊膜腔穿刺术或绒毛膜活检术,其中 6 例(12.5%)异常(占整个队列的 5.5%)。65/91(71.4%)活产儿确诊。在单胎中,7/63(11.1%)在超声上认为是单纯性的病例产后有其他异常,14/33(57.1%)复杂性病例在出生后得到证实。在单胎中,超声诊断先天性马蹄内翻足的比例高于双胎(p=0.05)。双侧先天性马蹄内翻足的产后确诊率高于单侧[33/33(87.9%)比 44/44(65.9%);p=0.03]。双侧先天性马蹄内翻足需要更多的产前检查,但发现其他异常的可能性没有增加,且与更多的产后手术干预有关。

结论

在单侧发现的单胎中,产前超声诊断先天性马蹄内翻足的准确性更高。双侧发现并不增加出现其他异常的可能性。即使是单纯性先天性马蹄内翻足,也应考虑染色体核型分析。© 2017 约翰威立父子公司

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