核型正常胎儿的颈部透明层增加

Open Access Macedonian Journal of Medical Sciences Pub Date : 2024-02-10 DOI:10.3889/oamjms.2024.11790

S. Anzhel, Emil Kovachev, Zhivko Zhekov, Boyan Georgiev

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引用次数: 0

摘要

背景：颈部透明带（NT）增厚与染色体异常和遗传综合征的高风险相关。在核型正常的胎儿中，NT 增厚会增加先天性心脏畸形、自然流产和死胎的可能性，尤其是厚度大于 3.5 毫米时。研究发现，如果没有伴随的结构异常且羊水穿刺结果正常，新生儿出生后的神经系统发育与普通人群没有差异。病例介绍：作者描述了一例单绒毛膜双胎的 sIUGR 病例，该病例在第二孕期进行了选择性脐带消融术，并活产下一名健康的单胎。

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Increased Nuchal Translucency in Fetuses with Normal Karyotype

BACKGROUND: Increased nuchal translucency (NT) is associated with a high risk of chromosomal abnormalities and genetic syndromes. In fetuses with normal karyotype, thickened NT increases the likelihood of congenital heart malformations, spontaneous abortions, and stillbirths, especially in thickness > 3.5 mm. It was found that in the absence of accompanying structural abnormalities and a normal result of amniocentesis, the postnatal neurological development of the newborns did not differ from the general population. CASE PRESENTATION: The authors describe a case of sIUGR of monochorionic twins with second trimester selective umbilical cord ablation and livebirth of a healthy singleton. CONCLUSION: Abnormal NT thickness on early fetal morphology scan in euploid fetuses, especially in twin pregnancies, increase the suspicion for late complications of the pregnancy.

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来源期刊

Open Access Macedonian Journal of Medical Sciences Medicine-Medicine (all)

自引率

0.00%

发文量

1225

期刊介绍： Open Access Macedonian Journal of Medical Sciences (OAMJMS) [formerly known as Macedonian Journal of Medical Sciences] is a top-tier open access medical science journal published by the ID Design 2012/DOOEL Skopje, Rajko Zhinzifov No 48, 1000 Skopje, Republic of Macedonia. OAMJMS is an international, modern, general medical journal covering all areas in the medical sciences, from basic studies to large clinical trials and cost-effectiveness analyses. We publish mostly human studies that substantially enhance our understanding of disease epidemiology, etiology, and physiology; the development of prognostic and diagnostic technologies; trials that test the efficacy of specific interventions and those that compare different treatments; and systematic reviews. We aim to promote translation of basic research into clinical investigation, and of clinical evidence into practice. We publish occasional studies in animal models when they report outstanding research findings that are highly clinically relevant. Our audience is the international medical community as well as educators, policy makers, patient advocacy groups, and interested members of the public around the world. OAMJMS is published quarterly online version. The Open Access Macedonian Journal of Medical Sciences (OAMJMS) publishes Medical Informatics, Basic Science, Clinical Science, Case Report, Brief Communication, Public Health, Public Policy, and Review Article from all fields of medicine and related fields. This journal also publishes, continuously or occasionally, the bibliographies of the members of the Society, medical history, medical publications, thesis abstracts, book reviews, reports on meetings, information on future meetings, important events and dates, and various headings which contribute to the development of the corresponding scientific field.