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小颌畸形作为爱德华兹综合征产前诊断的标志物

Micrognathia as a Diagnosis Marker for the Prenatal Identification of Edwards Syndrome.

作者信息

Albu Cristina-Crenguţa, Brăila Anca Daniela, Poalelungi Cristian-Viorel, Bohîltea Laurenţiu-Camil, Bănățeanu Andreea-Mariana, Damian Constantin Marian, Dîră Laurențiu Mihai, Bogdan-Andreescu Claudia Florina

机构信息

Department of Genetics, Faculty of Dentistry, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.

Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.

出版信息

Biomedicines. 2025 Feb 25;13(3):573. doi: 10.3390/biomedicines13030573.

Abstract

Edwards syndrome, or trisomy 18, is a severe chromosomal disorder marked by numerous congenital anomalies, including micrognathia. This study evaluated the diagnostic significance of micrognathia as a prenatal indicator for trisomy 18 through a case series involving five confirmed instances. Ultrasound assessments concentrated on the inferior facial angle (IFA) and the jaw index, supplemented by Non-Invasive Prenatal Testing (NIPT) and karyotyping. Micrognathia was consistently identified alongside other anomalies, reinforcing its reliability as an ultrasound marker for trisomy 18. The findings highlight the critical nature of early detection for informed parental counseling and effective pregnancy management.

摘要

爱德华兹综合征,即18三体综合征,是一种严重的染色体疾病,其特征是存在众多先天性异常,包括小颌畸形。本研究通过一个包含五例确诊病例的病例系列评估了小颌畸形作为18三体综合征产前指标的诊断意义。超声评估集中在下颌角(IFA)和颌指数,并辅以无创产前检测(NIPT)和核型分析。小颌畸形始终与其他异常同时被发现,这增强了其作为18三体综合征超声标志物的可靠性。研究结果突出了早期检测对于为父母提供知情咨询和有效孕期管理的关键作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c4a/11940253/233db144418c/biomedicines-13-00573-g001.jpg

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