第22号三体：一系列7例妊娠早期和中期的细胞遗传学分析和表型表现。

IF 1.6 3区医学 Q3 OBSTETRICS & GYNECOLOGY

Fetal Diagnosis and Therapy Pub Date : 2024-01-01 Epub Date: 2023-11-03 DOI:10.1159/000534619

Chris Minella, Eric Jeandidier, Antoine Koch, Maria Cristina Antal, Romain Favre, Nicolas Sananes, Anne-Sophie Weingertner

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引用次数: 0

摘要

引言：22三体是一种产前罕见的染色体异常。观察到的活产更少，通常对应于局限性胎盘镶嵌性22三体，或者更罕见的是，对应于真正的胎儿镶嵌性22号三体。病例介绍：我们检查并描述了一系列7例产前遇到的22号三体的细胞遗传学和表型表现，并讨论它们的相互关系以及案例管理和结果。讨论：我们旨在确定提示胎儿22三体的产前数据，并确定是否可以根据这些因素确定预后。我们的结论是，产前数据元素可以为指导夫妇和新生儿的多学科护理和支持提供关键信息元素。

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Trisomy 22: First and Second Trimester Cytogenetic Analysis and Phenotypic Presentation in a Series of Seven Cases.

Introduction: Trisomy 22 is a chromosomal disorder rarely encountered prenatally. Even fewer live births are observed and generally correspond to confined placental mosaic trisomy 22, or even more uncommonly, to true fetal mosaic trisomy 22.

Case presentation: We examine and describe a series of seven cases of trisomy 22 encountered prenatally in terms of their cytogenetic and phenotypic presentations and discuss their interrelationships along with case management and outcomes. We aimed to identify aspects of prenatal data suggestive of fetal trisomy 22 and to determine whether a prognosis can be established from these factors.

Conclusion: Our conclusion is that prenatal data elements can provide key elements of information to guide multidisciplinary care and support for the couple and the neonate.

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来源期刊

Fetal Diagnosis and Therapy 医学-妇产科学

CiteScore

4.70

自引率

9.10%

发文量

审稿时长

6-12 weeks

期刊介绍： The first journal to focus on the fetus as a patient, ''Fetal Diagnosis and Therapy'' provides a wide range of biomedical specialists with a single source of reports encompassing the common discipline of fetal medicine.