M. Cagan, Canan Unal, Gizem Urel Demir, E. Fadıloğlu, R. Ozgul, M. Beksaç
{"title":"Obstetrical history of a family with combined oxidative phosphorylation deficiency 3 and methylenetetrahydrofolate reductase polymorphisms","authors":"M. Cagan, Canan Unal, Gizem Urel Demir, E. Fadıloğlu, R. Ozgul, M. Beksaç","doi":"10.1515/crpm-2020-0085","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"16 1","pages":""},"PeriodicalIF":0.1000,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Perinatal Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1515/crpm-2020-0085","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
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.
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.
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