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羊水过多和先天性肌张力低下的潜在遗传疾病:三例报告及文献综述

Genetic Disorders Underlying Polyhydramnios and Congenital Hypotonia: Three Case Reports and a Review of the Literature.

作者信息

Dermitzaki Niki, Loukopoulos Themistoklis, Zikopoulos Athanasios, Vatopoulou Anastasia, Stavros Sofoklis, Skentou Chara

机构信息

Neonatal Intensive Care Unit, University Hospital of Ioannina, Ioannina, GRC.

Medicine, University of Ioannina, Ioannina, GRC.

出版信息

Cureus. 2023 Dec 11;15(12):e50331. doi: 10.7759/cureus.50331. eCollection 2023 Dec.

Abstract

An abnormal rise in the amount of amniotic fluid is a frequent prenatal observation called polyhydramnios, which can indicate a number of underlying problems. Even while it frequently goes undiagnosed during pregnancy, it may be linked to dangerous fetal illnesses. In three cases of newborns with congenital hypotonia, polyhydramnios was the sole prenatal symptom reported in this study. This fact highlights the significance of understanding the possible connection between genetic abnormalities or neurological problems and polyhydramnios, underscoring the responsibility obstetricians have in educating expectant mothers who are at potential risk for these uncommon but serious illnesses. Whole-genome sequencing (WES), an advanced kind of prenatal testing, is essential for determining genetic reasons and assisting families in making decisions. Working together with specialists in fetal medicine is crucial in guaranteeing the best possible treatment and results for the mother and child.

摘要

羊水过多是一种常见的产前检查发现,即羊水量异常增加,这可能表明存在一些潜在问题。尽管在孕期常常未被诊断出来,但它可能与危险的胎儿疾病有关。在本研究报告的3例先天性肌张力低下新生儿病例中,羊水过多是唯一的产前症状。这一事实凸显了了解基因异常或神经问题与羊水过多之间潜在联系的重要性,强调了产科医生对有这些罕见但严重疾病潜在风险的准妈妈进行教育的责任。全基因组测序(WES)作为一种先进的产前检测手段,对于确定遗传原因和帮助家庭做出决策至关重要。与胎儿医学专家合作对于确保为母婴提供最佳治疗和结果至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e09f/10779346/43db26095d06/cureus-0015-00000050331-i01.jpg

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