Algeri Paola, D’Oria Patrizia, Toto Valentina, Fenili Paola, Ermito Santina, Bonalumi Silvia, R. Denise, Ciammella Massimo
Abstract Objectives Müllerian anomalies are associated with infertility and worse pregnancy outcomes. Case presentation A 34-years-old primigravida patient affected by didelphys uterus and type 2 diabetes mellitus was admitted at 36.4 weeks with intrauterine fetal death. Labor was induced with oral Mifepristone and vaginal Dinoprostone. She had an uneventful vaginal delivery. Conclusions Pre-gestational evaluation should be recommended in each woman, in order to optimize clinical conditions in case of a chronic disease; moreover, if the patient is infertile Müllerian malformations should be excluded. In a didelphys uterus, the combination of Mifepristone and Dinoprostone could be a safe option for labor induction.
{"title":"Didelphys uterus: a successful induction of labor in a case of intrauterine fetal death near term","authors":"Algeri Paola, D’Oria Patrizia, Toto Valentina, Fenili Paola, Ermito Santina, Bonalumi Silvia, R. Denise, Ciammella Massimo","doi":"10.1515/crpm-2021-0078","DOIUrl":"https://doi.org/10.1515/crpm-2021-0078","url":null,"abstract":"Abstract Objectives Müllerian anomalies are associated with infertility and worse pregnancy outcomes. Case presentation A 34-years-old primigravida patient affected by didelphys uterus and type 2 diabetes mellitus was admitted at 36.4 weeks with intrauterine fetal death. Labor was induced with oral Mifepristone and vaginal Dinoprostone. She had an uneventful vaginal delivery. Conclusions Pre-gestational evaluation should be recommended in each woman, in order to optimize clinical conditions in case of a chronic disease; moreover, if the patient is infertile Müllerian malformations should be excluded. In a didelphys uterus, the combination of Mifepristone and Dinoprostone could be a safe option for labor induction.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"11 3 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78357272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
E. Savukynė, E. Machtejevienė, Kotryna Bajeruniene, V. Ašmonienė
Abstract Objectives The ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome is a rare genetic anomaly described as ectrodactyly (hands and feet), ectodermal dysplasia, and facial cleft with an incidence of around 1 in 90,000 in the population. This syndrome belongs to the TP63 gene’s mutation family. Ectrodactyly is described as the absence of the central toes or fingers or parts of these appendages. Ectodermal dysplasia usually includes changes in the skin, teeth, hair, nails, endocrine glands, nasolacrimal ducts, genitourinary system, conductive hearing loss. Case presentation This is a unique case of a 40-year-old second gravida, suspected of having a sporadic form of EEC syndrome. Routine transabdominal ultrasound at 14 weeks of gestation revealed malformation of the limbs. The two-dimensional and three-dimensional ultrasound at 16 weeks showed a fetus with ectrodactyly of right hand and foot and cleft palate presence. Diagnostic amniocentesis was performed at 17 weeks of gestation. A molecular genetics test using the Sanger sequencing method from amniotic fluid was performed by scanning TP63 gene sequences and revealed a heterozygous pathogenic variant in TP63. The patient decided on feticide. Conclusions The heredity of the syndrome is autosomal dominant with high variable expression. More than 300 clinical cases of this syndrome are described in the literature, including both sexes, but the actual etiology is unknown.
{"title":"Prenatal diagnosis of ectrodactyly-ectodermal dysplasia clefting syndrome ‒ a case report with literature review","authors":"E. Savukynė, E. Machtejevienė, Kotryna Bajeruniene, V. Ašmonienė","doi":"10.1515/crpm-2021-0076","DOIUrl":"https://doi.org/10.1515/crpm-2021-0076","url":null,"abstract":"Abstract Objectives The ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome is a rare genetic anomaly described as ectrodactyly (hands and feet), ectodermal dysplasia, and facial cleft with an incidence of around 1 in 90,000 in the population. This syndrome belongs to the TP63 gene’s mutation family. Ectrodactyly is described as the absence of the central toes or fingers or parts of these appendages. Ectodermal dysplasia usually includes changes in the skin, teeth, hair, nails, endocrine glands, nasolacrimal ducts, genitourinary system, conductive hearing loss. Case presentation This is a unique case of a 40-year-old second gravida, suspected of having a sporadic form of EEC syndrome. Routine transabdominal ultrasound at 14 weeks of gestation revealed malformation of the limbs. The two-dimensional and three-dimensional ultrasound at 16 weeks showed a fetus with ectrodactyly of right hand and foot and cleft palate presence. Diagnostic amniocentesis was performed at 17 weeks of gestation. A molecular genetics test using the Sanger sequencing method from amniotic fluid was performed by scanning TP63 gene sequences and revealed a heterozygous pathogenic variant in TP63. The patient decided on feticide. Conclusions The heredity of the syndrome is autosomal dominant with high variable expression. More than 300 clinical cases of this syndrome are described in the literature, including both sexes, but the actual etiology is unknown.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"2 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81708179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
R. Cicinelli, E. Cicinelli, F. Crupano, M. Vinciguerra, Bruno Lamanna, A. Vimercati
Abstract Objectives The occurrence of a uterocutaneous fistula (UCF) as an uncommon and severe complication of caesarean section (CS). The aim of this study was to describe two cases of UCFs after CS and to discuss about symptoms, diagnosis and treatment. Case presentation Both women few days after CS had surgical site infection, fever and elevation of lab inflammation markers. bacterial culture of the wound drainage was positive for Escherichia Coli and Enterococcus Faecalis. Conclusions Fistula between uterine and skin is a rare condition but should be considered with signs of inflammation after cesarean section; 2D/3D ultrasound evaluation appears to be useful for diagnosis of UCFs when combined with CT fistulography and MRI in order to obtain early diagnosis and, consequently, a conservative surgery.
{"title":"A rare but troublesome complication of cesarean section: the uterocutaneous fistula. Report of two cases and review of literature","authors":"R. Cicinelli, E. Cicinelli, F. Crupano, M. Vinciguerra, Bruno Lamanna, A. Vimercati","doi":"10.1515/crpm-2021-0057","DOIUrl":"https://doi.org/10.1515/crpm-2021-0057","url":null,"abstract":"Abstract Objectives The occurrence of a uterocutaneous fistula (UCF) as an uncommon and severe complication of caesarean section (CS). The aim of this study was to describe two cases of UCFs after CS and to discuss about symptoms, diagnosis and treatment. Case presentation Both women few days after CS had surgical site infection, fever and elevation of lab inflammation markers. bacterial culture of the wound drainage was positive for Escherichia Coli and Enterococcus Faecalis. Conclusions Fistula between uterine and skin is a rare condition but should be considered with signs of inflammation after cesarean section; 2D/3D ultrasound evaluation appears to be useful for diagnosis of UCFs when combined with CT fistulography and MRI in order to obtain early diagnosis and, consequently, a conservative surgery.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"51 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84994906","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yuping Wang, S. Ferrero, Shasha Li, Shisan Liu, Wah Yang
Abstract Objectives Pelvic actinomycotic abscess is uncommon and its presentation as a post-cesarean complication may be confused with hemorrhagic mass. It is still a disease that poses a significant diagnostic challenge. Management and prognosis are not well known for this type of infection. Case presentation A 36-year-old woman was admitted to the hospital six days after the cesarean section with abdominal pain and dysuria. The second operation was diagnosed as pelvic abscess, debridement and drainage about 250 mL abscess. Bacterial culture of abscess confirmed as Actinomyces odontolyticus infection. Intravenous penicillin was given immediately, amoxicillin was taken orally for three months after discharge, and no recurrence was found after follow-up for ten months. Conclusions Pelvic A. odontolyticus abscess may be confirmed through correct bacterial culture and cured by a short-term course of Amoxicillin. With prompt recognition and treatment, favorable outcomes of pelvic Actinomycotic abscess in the perinatal period could be achieved.
{"title":"Pelvic abscess associated with Actinomyces species ‒ a rare post-cesarean complication","authors":"Yuping Wang, S. Ferrero, Shasha Li, Shisan Liu, Wah Yang","doi":"10.1515/crpm-2021-0048","DOIUrl":"https://doi.org/10.1515/crpm-2021-0048","url":null,"abstract":"Abstract Objectives Pelvic actinomycotic abscess is uncommon and its presentation as a post-cesarean complication may be confused with hemorrhagic mass. It is still a disease that poses a significant diagnostic challenge. Management and prognosis are not well known for this type of infection. Case presentation A 36-year-old woman was admitted to the hospital six days after the cesarean section with abdominal pain and dysuria. The second operation was diagnosed as pelvic abscess, debridement and drainage about 250 mL abscess. Bacterial culture of abscess confirmed as Actinomyces odontolyticus infection. Intravenous penicillin was given immediately, amoxicillin was taken orally for three months after discharge, and no recurrence was found after follow-up for ten months. Conclusions Pelvic A. odontolyticus abscess may be confirmed through correct bacterial culture and cured by a short-term course of Amoxicillin. With prompt recognition and treatment, favorable outcomes of pelvic Actinomycotic abscess in the perinatal period could be achieved.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"24 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78883723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Leonor Castro, A. C. Ferreira, Á. Cohen, Israel Macedo, T. Tomé
Abstract Objectives Pearson syndrome is a mitochondrial cytopathy with multisystemic involvement that typically presents in infancy and has poor prognosis. We aim to present a case that is distinct due to the timing of presentation and associated anomalies. Case presentation We report the case of preterm monochorionic twins with transfusion dependent fetal anemia that had post-natal multisystem dysfunction which led to the diagnosis of Pearson syndrome. Conclusions This case highlights the possibility of antenatal presentation of Pearson syndrome, which should be considered in cases of severe fetal anemia without an apparent cause.
{"title":"Preterm twins with antenatal presentation of Pearson syndrome","authors":"Leonor Castro, A. C. Ferreira, Á. Cohen, Israel Macedo, T. Tomé","doi":"10.1515/crpm-2021-0083","DOIUrl":"https://doi.org/10.1515/crpm-2021-0083","url":null,"abstract":"Abstract Objectives Pearson syndrome is a mitochondrial cytopathy with multisystemic involvement that typically presents in infancy and has poor prognosis. We aim to present a case that is distinct due to the timing of presentation and associated anomalies. Case presentation We report the case of preterm monochorionic twins with transfusion dependent fetal anemia that had post-natal multisystem dysfunction which led to the diagnosis of Pearson syndrome. Conclusions This case highlights the possibility of antenatal presentation of Pearson syndrome, which should be considered in cases of severe fetal anemia without an apparent cause.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"4 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73869661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Obejctives Phenylketonuria (PKU) and hyperphenylalaninemia (HPHE) are metabolic disorders of phenylalanine (phe) metabolism due to the liver enzyme phe hydroxylase deficiency resulting in mental retardation. The only treatment of these disorders is the total or the partial breastfeeding replacement with special formula, respectively. Case presentation We aimed to evaluate the maternal stress degree in the two groups of mothers and compare the stress degree between mothers who were obliged to replace breastfeeding completely with those who replaced it partially. Mothers (n=50) were divided into two groups: n=25 with PKU and n=25 with HPHE infants. Mothers with PKU newborns were obliged to replace breastfeeding completely and feed their newborns with a common formula plus phe free medical food, whereas mothers with HPHE infants partially replaced breastfeeding with phe free medical food. Stress degrees were calculated using special questionnaire checklist by Bourne E. Psychological support was provided for both groups of mothers with stress. Conclusions Most mothers with PKU infants experienced high or severe stress, whereas mothers with HPHE newborns suffered from low and moderate symptoms and signs of stress. After psychological support most mothers with PKU newborns were ameliorated from stress symptoms; mothers with HPHE neonates experienced almost no stress symptoms. Mothers with PKU infants obliged to complete breastfeeding replacement experienced high and/or severe stress degrees as compared to mothers with HPHE newborns with partial breastfeeding replacement. Psychological support resulted in amelioration of both tested groups.
{"title":"Stress degree demonstrated in mothers with phenylketonuria or hyperphenylalaninemia infant when requested for total or partial breastfeeding replacement","authors":"K. Schulpis, K. Iakovou","doi":"10.1515/crpm-2019-0079","DOIUrl":"https://doi.org/10.1515/crpm-2019-0079","url":null,"abstract":"Abstract Obejctives Phenylketonuria (PKU) and hyperphenylalaninemia (HPHE) are metabolic disorders of phenylalanine (phe) metabolism due to the liver enzyme phe hydroxylase deficiency resulting in mental retardation. The only treatment of these disorders is the total or the partial breastfeeding replacement with special formula, respectively. Case presentation We aimed to evaluate the maternal stress degree in the two groups of mothers and compare the stress degree between mothers who were obliged to replace breastfeeding completely with those who replaced it partially. Mothers (n=50) were divided into two groups: n=25 with PKU and n=25 with HPHE infants. Mothers with PKU newborns were obliged to replace breastfeeding completely and feed their newborns with a common formula plus phe free medical food, whereas mothers with HPHE infants partially replaced breastfeeding with phe free medical food. Stress degrees were calculated using special questionnaire checklist by Bourne E. Psychological support was provided for both groups of mothers with stress. Conclusions Most mothers with PKU infants experienced high or severe stress, whereas mothers with HPHE newborns suffered from low and moderate symptoms and signs of stress. After psychological support most mothers with PKU newborns were ameliorated from stress symptoms; mothers with HPHE neonates experienced almost no stress symptoms. Mothers with PKU infants obliged to complete breastfeeding replacement experienced high and/or severe stress degrees as compared to mothers with HPHE newborns with partial breastfeeding replacement. Psychological support resulted in amelioration of both tested groups.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"1 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90389052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Kelly Ribeiro, S. Mahboobani, K. van Ree, K. Clifford, T. Teoh
Abstract Objectives Postpartum ovarian vein thrombosis (POVT) is a rare pathology that can lead to severe complications such as sepsis, extension of the thrombus leading to organ failure, and pulmonary embolism. It therefore requires early recognition and prompt treatment. Case presentation A patient with right POVT presented four days after delivery with acute right-sided abdominal pain and fever. Appendicitis was initially considered, before an abdominal-pelvic computed tomography raised the suspicion of POVT, subsequently confirmed through transabdominal ultrasound. Antibiotics and anticoagulation were initiated, with rapid clinical improvement and complete resolution of the thrombus three months later. Conclusions Diagnosing POVT is challenging as it clinically mimics other more frequent conditions. It is rare but life-threatening and should be considered in all females presenting with abdominal pain and fever in the postpartum period.
{"title":"Postpartum ovarian vein thrombosis","authors":"Kelly Ribeiro, S. Mahboobani, K. van Ree, K. Clifford, T. Teoh","doi":"10.1515/crpm-2021-0002","DOIUrl":"https://doi.org/10.1515/crpm-2021-0002","url":null,"abstract":"Abstract Objectives Postpartum ovarian vein thrombosis (POVT) is a rare pathology that can lead to severe complications such as sepsis, extension of the thrombus leading to organ failure, and pulmonary embolism. It therefore requires early recognition and prompt treatment. Case presentation A patient with right POVT presented four days after delivery with acute right-sided abdominal pain and fever. Appendicitis was initially considered, before an abdominal-pelvic computed tomography raised the suspicion of POVT, subsequently confirmed through transabdominal ultrasound. Antibiotics and anticoagulation were initiated, with rapid clinical improvement and complete resolution of the thrombus three months later. Conclusions Diagnosing POVT is challenging as it clinically mimics other more frequent conditions. It is rare but life-threatening and should be considered in all females presenting with abdominal pain and fever in the postpartum period.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"131 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74987596","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
G. Tran, A. Nguyen, Ha Xuan Nam, Tareq Mohammed Ali Al-Ahdal, Ranjit Tiwari, Hảo Nguyễn Thị, Jaffer Shah, N. Huy, T. N. Pham
Abstract Objectives This is the report of the first pregnant woman having COVID-19 in Vietnam. The patient was at 21 weeks of gestation and a high level of serum D-dimer and fibrinogen was observed from admission day to day 5. Case presentation The patient had lived in Russia before returning to Vietnam where she was diagnosed with COVID-19. Clinical characteristics of this patient were described and there was no major derangement of laboratory parameters. She was asymptomatic when being diagnosed and then developed mild symptoms of COVID-19 after three days of admission. The patient was treated with lopinavir/ritonavir, ampicillin/sulbactam, and Lovenox and continued being hospitalized until April 25th, 2020. Conclusions We presented the clinical picture of the first COVID-19 pregnant case in Vietnam. This case report highlighted the increased risk of developing coagulopathy even in mild and asymptomatic patients.
{"title":"Case report: The first COVID-19 case among pregnant women at 21-week in Vietnam","authors":"G. Tran, A. Nguyen, Ha Xuan Nam, Tareq Mohammed Ali Al-Ahdal, Ranjit Tiwari, Hảo Nguyễn Thị, Jaffer Shah, N. Huy, T. N. Pham","doi":"10.1515/crpm-2020-0067","DOIUrl":"https://doi.org/10.1515/crpm-2020-0067","url":null,"abstract":"Abstract Objectives This is the report of the first pregnant woman having COVID-19 in Vietnam. The patient was at 21 weeks of gestation and a high level of serum D-dimer and fibrinogen was observed from admission day to day 5. Case presentation The patient had lived in Russia before returning to Vietnam where she was diagnosed with COVID-19. Clinical characteristics of this patient were described and there was no major derangement of laboratory parameters. She was asymptomatic when being diagnosed and then developed mild symptoms of COVID-19 after three days of admission. The patient was treated with lopinavir/ritonavir, ampicillin/sulbactam, and Lovenox and continued being hospitalized until April 25th, 2020. Conclusions We presented the clinical picture of the first COVID-19 pregnant case in Vietnam. This case report highlighted the increased risk of developing coagulopathy even in mild and asymptomatic patients.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"80 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83945519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M. Cagan, Canan Unal, Gizem Urel Demir, E. Fadıloğlu, R. Ozgul, M. Beksaç
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.
{"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":"https://doi.org/10.1515/crpm-2020-0085","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":0.1,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86912276","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Objectives Total aortic occlusion is a severe complication of Takayasu arteritis (TAK). Pregnancy follow-up in the state of total aortic occlusion due to TAK has not been reported before. Case presentation A 35 year-old nulliparous woman with total aortic occlusion in the distal aorta due to TAK, admitted with pregnancy desire. She had developed a collateral vessel system which has maintained the lower body circulation. She was informed about the potential risks after an evaluation and she admitted to our clinic at the seventh week of pregnancy, and acetylsalicylic acid was prescribed. At 20th gestational week anomaly screening was in normal limits although the uterine artery Doppler had lower S/D, PI and RI values. She was followed-up regularly in every two weeks. Vascular examination was performed by using an ankle brachial index (ABI) by duplex ultrasound. At 20th gestational week ankle brachial index score was 0.8–0.9 which indicates mild disease. Around 28th gestational week her claudication got worse again and ABI was in moderate level (0.5–0.8) and low molecular weight heparin was started. Until 37th gestational week her disease was stable, ABI was above 0.5, her blood pressure was in normal limits, no vascular complication occurred and the baby’s growth percentile was at 25th centile. At 37th gestational week a 2,640 g baby was delivered. Patient was discharged without any complications at third post-operative day. Conclusions Complicated TAK patients may have good obstetric outcomes with a multidisciplinary approach in experienced tertiary centers.
{"title":"Management of a patient in the state of total occlusion of aorta due to Takayasu arteritis in preconceptional and pregnancy period","authors":"Emre Günakan, T. Akay, S. Esin","doi":"10.1515/crpm-2021-0015","DOIUrl":"https://doi.org/10.1515/crpm-2021-0015","url":null,"abstract":"Abstract Objectives Total aortic occlusion is a severe complication of Takayasu arteritis (TAK). Pregnancy follow-up in the state of total aortic occlusion due to TAK has not been reported before. Case presentation A 35 year-old nulliparous woman with total aortic occlusion in the distal aorta due to TAK, admitted with pregnancy desire. She had developed a collateral vessel system which has maintained the lower body circulation. She was informed about the potential risks after an evaluation and she admitted to our clinic at the seventh week of pregnancy, and acetylsalicylic acid was prescribed. At 20th gestational week anomaly screening was in normal limits although the uterine artery Doppler had lower S/D, PI and RI values. She was followed-up regularly in every two weeks. Vascular examination was performed by using an ankle brachial index (ABI) by duplex ultrasound. At 20th gestational week ankle brachial index score was 0.8–0.9 which indicates mild disease. Around 28th gestational week her claudication got worse again and ABI was in moderate level (0.5–0.8) and low molecular weight heparin was started. Until 37th gestational week her disease was stable, ABI was above 0.5, her blood pressure was in normal limits, no vascular complication occurred and the baby’s growth percentile was at 25th centile. At 37th gestational week a 2,640 g baby was delivered. Patient was discharged without any complications at third post-operative day. Conclusions Complicated TAK patients may have good obstetric outcomes with a multidisciplinary approach in experienced tertiary centers.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"23 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78690667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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