16p微缺失1例胎儿颅内出血

IF 0.1 Q4 OBSTETRICS & GYNECOLOGY

Case Reports in Perinatal Medicine Pub Date : 2022-01-01 DOI:10.1515/crpm-2021-0064

Margarita Álvarez-de-la-Rosa Rodríguez, Mercedes Hernández-Suárez, A. Padilla-Pérez, Ylenia Dévora-Cabrera, Walter Plasencia Acevedo

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引用次数: 0

摘要

摘要目的颅内出血是早产儿的常见病，但在胎儿期往往预后不良，病因不明。我们提出的诊断，演变和管理胎儿出血事故与遗传母体微缺失的16号染色体短臂。妊娠中期常规超声异常导致随访。胎儿胚性基质出血伴严重不对称脑室肿大及继发性脑室周围囊肿发生于妊娠晚期。阵列CGH显示16p11.2微缺失。结论该微缺失先前未与胎儿颅内出血相关。

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Fetal intracranial hemorrhage in a case of 16p microdeletion

Abstract Objectives Intracranial hemorrhages are common events in premature infants but in fetal life those incidents are often of ominous prognosis and unknown etiology. Case presentation We present the diagnosis, evolution and management of a fetal hemorrhagic accident associated with an inherited maternal microdeletion of the chromosome 16 short arm. Abnormal neurosonography in routine second trimester ultrasound led to follow up. Fetal germinal matrix hemorrhage along with severe asymmetric ventriculomegaly and a secondary periventricular cyst developed in the early third trimester. Array CGH showed microdeletion 16p11.2. Conclusions This microdeletion had not been previously associated with fetal intracranial hemorrhage.

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来源期刊

Case Reports in Perinatal Medicine OBSTETRICS & GYNECOLOGY-

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期刊介绍： Case Reports in Perinatal Medicine is a double-blind peer-reviewed journal. The objective of the new journal is very similar to that of JPM. In addition to evidence-based studies, practitioners in clinical practice esteem especially exemplary reports of cases that reveal specific manifestations of diseases, its progress or its treatment. We consider case reports and series to be brief reports describing an isolated clinical case or a small number of cases. They may describe new or uncommon diagnoses, unusual outcomes or prognosis, new or infrequently used therapies and side effects of therapy not usually discovered in clinical trials. They represent the basic concept of experiences for studies on representative groups for further evidence-based research. The potential roles of case reports and case series are: Recognition and description of new diseases Detection of drug side effects (adverse or beneficial) Study of mechanisms of disease Medical education and audit Recognition of rare manifestations of disease.