合并氧化磷酸化缺陷3和亚甲基四氢叶酸还原酶多态性家族的产科史

IF 0.1 Q4 OBSTETRICS & GYNECOLOGY Case Reports in Perinatal Medicine Pub Date : 2021-01-01 DOI:10.1515/crpm-2020-0085

M. Cagan, Canan Unal, Gizem Urel Demir, E. Fadıloğlu, R. Ozgul, M. Beksaç

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摘要

目的复发性妊娠丢失(RPL)是一种具有多种病因背景的毁灭性妊娠并发症。我们报告了一例合并氧化磷酸化缺陷3 (COXPD3)携带孕妇与亚甲基四氢叶酸还原酶(MTHFR)多态性。由于COXPD3，她有五次流产和一次产后死亡。该患者于第七次怀孕并捐赠卵母细胞时首次入住我们的诊所。患者在一个特殊的产前保健项目中登记，并在足月生下了一个健康的婴儿。她的第八次妊娠因产前诊断为COXPD3而终止。结论RPL患者需采取综合、个体化治疗，以获得最佳治疗效果。

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Obstetrical history of a family with combined oxidative phosphorylation deficiency 3 and methylenetetrahydrofolate reductase polymorphisms

Abstract Objectives Recurrent pregnancy loss (RPL) is a devastating complication of pregnancy with various etiologic backgrounds. Case presentation We present a case of combined oxidative phosphorylation deficiency 3 (COXPD3) carrier pregnant woman with Methylenetetrahydrofolate reductase (MTHFR) polymorphisms. She had five pregnancy losses and a postpartum death due to COXPD3. The patient was admitted to our clinic for the first time at her seventh pregnancy with oocyte donation. The patient was registered in a special antenatal care program and delivered a healthy baby at term. Her eighth pregnancy was terminated due to COXPD3 which was prenatally diagnosed. Conclusions Comprehensive and individualized approaches are necessary in RPL cases to obtain optimal outcomes.

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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.