先天性畸形足的产前咨询。

Akshitha Adhiyaman, Olivia C Tracey, Amith Umesh, Patrick P Nian, Michele K Silverstein, Shevaun M Doyle, David M Scher
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引用次数: 0

摘要

先天性内翻足是一种常见的畸形,影响1 / 1000的新生儿,在常规产前护理中经常被发现。各种各样的检测方法和测试被用来识别胎儿的畸形足和其他先天性异常,包括全超声检查、羊膜穿刺术、绒毛膜绒毛取样或无细胞DNA。较新的研究将特定的基因组序列与内翻足联系起来。对于骨科医生来说,了解各种测试的含义以提供适当的产前咨询是很重要的。早期产前检测马蹄内翻足可以帮助父母为照顾马蹄内翻足的孩子做好准备,并在家庭和临床医生之间建立信任,最终为他们的孩子提供更好的、以患者为中心的护理。关键概念:(1)及时识别和治疗先天性内翻足是促进最佳治疗的必要条件(2)产前诊断通常包括妊娠13-16周时对双脚足底表面的超声检查(3)对于有神经功能障碍或综合征特征的患者,可能需要额外的产后检查(4)遗传标记如PITX1, RBM10, HOX,和CASP(以及其他)已被确定与畸形足的发展有关,并对产前检查和咨询有影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Prenatal Counseling for Congenital Clubfoot.

Congenital clubfoot is a common deformity that affects 1 in 1000 newborns and is frequently detected prenatally during routine prenatal care. A wide variety of detection methods and testing are used to identify clubfoot and other congenital anomalies in the fetus, including complete ultrasonography, amniocentesis, chorionic villus sampling, or cell-free DNA. Newer studies have associated certain genome sequences to clubfoot specifically. It is important for orthopaedic surgeons to understand the implications of the various tests to provide the appropriate prenatal counseling. Early prenatal detection of clubfoot can help parents prepare for the demands of caring for a child with clubfoot and build trust between families and clinicians, ultimately leading to better, patient-centered care for their children.

Key concepts: (1)Prompt recognition and treatment of congenital clubfoot is imperative to facilitate optimal treatment.(2)Prenatal diagnosis usually consists of sonography of the plantar surface of both feet at 13-16 weeks' gestation.(3)Additional post-natal testing may be indicated in patients with neurological impairment or syndromic features.(4)Genetic markers such as PITX1, RBM10, HOX, and CASP (among others) have been identified as involved in clubfoot development and have implications on prenatal testing and counseling.

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