clinodacty的产前诊断及其与遗传综合征的关系:1例报告。

IF 0.7 Q4 OBSTETRICS & GYNECOLOGY Case Reports in Women's Health Pub Date : 2024-12-01 DOI:10.1016/j.crwh.2024.e00674
Themistoklis Loukopoulos , Athanasios Zikopoulos , Nikolaos Vlassis , Emmanouil Manolakos , Sotirios Sotiriou , Anastasia Vatopoulou , Fani Gkrozou , Anastasios Potiris , Sofoklis Stavros , Charikleia Skentou
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引用次数: 0

摘要

一根手指相对于其他手指向内弯曲是产前筛查期间常见的观察结果。当角度超过10度时,被称为“斜指”,可能提示各种潜在问题。尽管它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征兆。我们报告的情况下,胎儿诊断为拇指的clinodly伴有心动过速,异常水平的母体激素在孕早期和增加阻抗流动子宫动脉。虽然无创产前检查正常,但进行羊膜穿刺术,并通过分子核型鉴定了20号染色体上的两个偏差。我们的报告旨在提高临床对基因异常和clinodacly之间潜在关联的怀疑。为了达到对母亲和孩子最有利的结果,需要仔细的临床和遗传咨询。
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Prenatal diagnosis of clinodactyly and its association with genetic syndromes: A case report
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.
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来源期刊
Case Reports in Women's Health
Case Reports in Women's Health Medicine-Obstetrics and Gynecology
CiteScore
2.10
自引率
0.00%
发文量
89
审稿时长
7 days
期刊最新文献
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