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弯指畸形的产前诊断及其与遗传综合征的关联:一例报告

Prenatal diagnosis of clinodactyly and its association with genetic syndromes: A case report.

作者信息

Loukopoulos Themistoklis, Zikopoulos Athanasios, Vlassis Nikolaos, Manolakos Emmanouil, Sotiriou Sotirios, Vatopoulou Anastasia, Gkrozou Fani, Potiris Anastasios, Stavros Sofoklis, Skentou Charikleia

机构信息

Department of Obstetrics and Gynecology, University Hospital of Ioannina, Ioannina, Greece.

Department of Obstetrics and Gynecology, Royal Devon and Exeter Hospital, Barrack Rd, Exeter EX2 5DW, UK.

出版信息

Case Rep Womens Health. 2024 Dec 6;44:e00674. doi: 10.1016/j.crwh.2024.e00674. eCollection 2024 Dec.

Abstract

A curvature of a finger that bends inwards relative to the other fingers is a common observation during prenatal screening. When the angulation exceeds 10 degrees, it is known as "clinodactyly" and could suggest a variety of underlying issues. Even though it usually remains unnoticed during pregnancy, it may be a sign of serious fetal disease. We report the case of a fetus diagnosed with clinodactyly of the thumb accompanied by tachycardia, abnormal levels of maternal hormones in the first trimester and increased impedance to flow in the uterine arteries. Although non-invasive prenatal testing was normal, amniocentesis was carried out and two deviations at chromosome 20 were identified through molecular karyotyping. Our report aims to raise clinical suspicion regarding the potential association between genetic abnormalities and clinodactyly. A careful clinical and genetic consultation is required in order to achieve the most favorable outcome for both mother and child.

摘要

在产前筛查期间,经常会观察到手指相对于其他手指向内弯曲的情况。当角度超过10度时,这被称为“弯指畸形”,可能暗示多种潜在问题。尽管在怀孕期间通常不会被注意到,但它可能是严重胎儿疾病的迹象。我们报告了一例被诊断为拇指弯指畸形的胎儿病例,该胎儿伴有心动过速、孕早期母体激素水平异常以及子宫动脉血流阻抗增加。尽管无创产前检测结果正常,但仍进行了羊水穿刺,并通过分子核型分析在20号染色体上发现了两个变异。我们的报告旨在提高临床对基因异常与弯指畸形之间潜在关联的怀疑。为了实现母婴的最佳预后,需要进行仔细的临床和基因咨询。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/715c/11667062/b8e873c3c9a7/gr1.jpg

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