Aoi Shiraga, Takuma Ohsuga, K. Kawasaki, Haruta Mogami, S. Minamiguchi, Masaki Mandai
Abstract Objectives Although placental chorangiomas are often asymptomatic, larger tumors (>4–5 cm) can cause various perinatal complications, including polyhydramnios, preterm birth, fetal anemia, fetal hydrops, and intrauterine fetal death. Symptomatic placental chorangiomas are often diagnosed prenatally on ultrasonography as a mass on the fetal side of the placenta. Case presentation A 37-year-old pregnant woman underwent emergency cesarean delivery at 34 weeks’ gestation due to rapidly progressive fetal hydrops leading to fetal dysfunction, resulting in neonatal death. Placental pathology indicated multiple placental giant chorangiomas that occupied 40% of the placenta. Because of the disk shape of the placenta, prenatal diagnosis by ultrasonography was difficult. Conclusions Some placental chorangiomas are difficult to diagnose and lead to fetal hydrops and poor prognosis, even if ultrasonography does not show an obvious mass in the placenta.
{"title":"A case of placental multiple giant chorangioma leading to neonatal death from fetal hydrops","authors":"Aoi Shiraga, Takuma Ohsuga, K. Kawasaki, Haruta Mogami, S. Minamiguchi, Masaki Mandai","doi":"10.1515/crpm-2022-0008","DOIUrl":"https://doi.org/10.1515/crpm-2022-0008","url":null,"abstract":"Abstract Objectives Although placental chorangiomas are often asymptomatic, larger tumors (>4–5 cm) can cause various perinatal complications, including polyhydramnios, preterm birth, fetal anemia, fetal hydrops, and intrauterine fetal death. Symptomatic placental chorangiomas are often diagnosed prenatally on ultrasonography as a mass on the fetal side of the placenta. Case presentation A 37-year-old pregnant woman underwent emergency cesarean delivery at 34 weeks’ gestation due to rapidly progressive fetal hydrops leading to fetal dysfunction, resulting in neonatal death. Placental pathology indicated multiple placental giant chorangiomas that occupied 40% of the placenta. Because of the disk shape of the placenta, prenatal diagnosis by ultrasonography was difficult. Conclusions Some placental chorangiomas are difficult to diagnose and lead to fetal hydrops and poor prognosis, even if ultrasonography does not show an obvious mass in the placenta.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"22 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77687891","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 Uterine artery pseudoaneurysm (UAP) is a rare but sinister complication during pregnancy. Diagnosis can be made by color Doppler ultrasound. Previous abdominal- and obstetric surgery increase the risk for UAP formation. Case presentation We present a case of a 36 year young healthy women, presenting at 27 weeks of gestation with acute lower abdominal pain. UAP was detected by color Doppler ultrasound. An endovascular coil embolization was performed, with good maternal and fetal outcome. Furthermore, a review of the literature looking at UAP embolization in pregnancy was performed. Conclusions UAP is reported to appear as a complication of endometriosis. UAP should be treated by endovascular coil embolization, which is a safe and with almost 100% success rate an effective treatment during pregnancy.
{"title":"Embolization of uterine artery pseudoaneurysm during pregnancy: case report and review of the literature","authors":"C. Metz, L. Hinkson, B. Gebauer, W. Henrich","doi":"10.1515/crpm-2022-0010","DOIUrl":"https://doi.org/10.1515/crpm-2022-0010","url":null,"abstract":"Abstract Objectives Uterine artery pseudoaneurysm (UAP) is a rare but sinister complication during pregnancy. Diagnosis can be made by color Doppler ultrasound. Previous abdominal- and obstetric surgery increase the risk for UAP formation. Case presentation We present a case of a 36 year young healthy women, presenting at 27 weeks of gestation with acute lower abdominal pain. UAP was detected by color Doppler ultrasound. An endovascular coil embolization was performed, with good maternal and fetal outcome. Furthermore, a review of the literature looking at UAP embolization in pregnancy was performed. Conclusions UAP is reported to appear as a complication of endometriosis. UAP should be treated by endovascular coil embolization, which is a safe and with almost 100% success rate an effective treatment during pregnancy.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"19 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2022-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82776025","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}
F. Gunawan, M. Mangler, C. Sanders, Trisha Ardine Leonardo, Y. Cindy
Abstract Objectives Pregnancy associated atypical hemolytic uremic syndrome (p-aHUS) is a rare condition of thrombotic microangiopathy (TMA) which causes an increase of fetal and maternal morbidity and mortality. It presents typically with a triad of microangiopathic hemolytic anemia (MAHA), thrombocytopenia and acute progressive renal failure. Differential diagnoses of HELLP (Hemolysis, Elevated Liver enzymes, and Low Platelets) syndrome, preeclampsia, thrombotic thrombocytopenic purpura (TTP), and disseminated intravascular coagulation (DIC) syndrome must be considered. In the following case report, presented is a 32-year-old, 38 weeks pregnant Caucasian woman admitted to Eberswalde Hospital with signs of preeclampsia and HELLP Syndrome. Caesarean Section was performed due to HELLP syndrome and fetal distress. Acute renal failure occurs shortly after a successful delivery. After a diagnosis of p-aHUS is established, the patient was given Eculizumab, which yielded significant improvements. Case presentation A 32-year-old, 38 week pregnant Caucasian woman was admitted to Eberswalde Hospital with upper right abdominal pain. After a laboratory examination, a diagnosis of HELLP syndrome was established and a Caesarean Section was performed. The follow-up examination revealed deterioration of clinical signs with the patient experiencing dyspnea, oliguria, and oedema, as well as aggravation of laboratory values, ranging from severe thrombocytopenia, hemolytic anemia, liver injury, and acute kidney injury. After excluding other possible causes of TMA, a diagnosis of p-aHUS was established and a treatment with Eculizumab was administered. Clinical and laboratory signs of hemolysis and kidney functions were found to improve gradually after two administrations of Eculizumab. The patient was discharged after 20 days of hospitalization with significantly improved condition and hematological values. Conclusions A successful treatment of p-aHUS requires a comprehensive assessment and a prompt diagnosis, which can be confounded by multiple similar differential diagnoses. Treatment with Eculizumab was found to significantly improve the outcome of the patient, but more studies are required to decide on a standardized regiment for p-aHUS.
{"title":"Pregnancy associated atypical hemolytic uremic syndrome presenting with preeclampsia with HELLP syndrome and following treatment with Eculizumab","authors":"F. Gunawan, M. Mangler, C. Sanders, Trisha Ardine Leonardo, Y. Cindy","doi":"10.1515/crpm-2022-0016","DOIUrl":"https://doi.org/10.1515/crpm-2022-0016","url":null,"abstract":"Abstract Objectives Pregnancy associated atypical hemolytic uremic syndrome (p-aHUS) is a rare condition of thrombotic microangiopathy (TMA) which causes an increase of fetal and maternal morbidity and mortality. It presents typically with a triad of microangiopathic hemolytic anemia (MAHA), thrombocytopenia and acute progressive renal failure. Differential diagnoses of HELLP (Hemolysis, Elevated Liver enzymes, and Low Platelets) syndrome, preeclampsia, thrombotic thrombocytopenic purpura (TTP), and disseminated intravascular coagulation (DIC) syndrome must be considered. In the following case report, presented is a 32-year-old, 38 weeks pregnant Caucasian woman admitted to Eberswalde Hospital with signs of preeclampsia and HELLP Syndrome. Caesarean Section was performed due to HELLP syndrome and fetal distress. Acute renal failure occurs shortly after a successful delivery. After a diagnosis of p-aHUS is established, the patient was given Eculizumab, which yielded significant improvements. Case presentation A 32-year-old, 38 week pregnant Caucasian woman was admitted to Eberswalde Hospital with upper right abdominal pain. After a laboratory examination, a diagnosis of HELLP syndrome was established and a Caesarean Section was performed. The follow-up examination revealed deterioration of clinical signs with the patient experiencing dyspnea, oliguria, and oedema, as well as aggravation of laboratory values, ranging from severe thrombocytopenia, hemolytic anemia, liver injury, and acute kidney injury. After excluding other possible causes of TMA, a diagnosis of p-aHUS was established and a treatment with Eculizumab was administered. Clinical and laboratory signs of hemolysis and kidney functions were found to improve gradually after two administrations of Eculizumab. The patient was discharged after 20 days of hospitalization with significantly improved condition and hematological values. Conclusions A successful treatment of p-aHUS requires a comprehensive assessment and a prompt diagnosis, which can be confounded by multiple similar differential diagnoses. Treatment with Eculizumab was found to significantly improve the outcome of the patient, but more studies are required to decide on a standardized regiment for p-aHUS.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"58 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2022-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84997618","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}
S. Puvabanditsin, Melissa Guillermo, Yi-Chou Cheng, Olga Sudol, R. Mehta
Abstract Objectives Neuroblastoma (NB) is one of the most common tumor during perinatal period. The clinical features of NB occurring in fetuses and neonates differ from that in the older age groups. Frequently, Congenital neuroblastomas are incidentally detected prenatally. Clinical presentations of NBs in neonates are highy variable. Case presentation A 24-day old preterm 32 weeks’ gestation male neonate developed cholestasis that lead to the diagnosis of stage MS neuroblastoma. There was no NB primary site identified. Conclusions To the best of our knowledge, this is the first case report of metastatic NB (Stage MS) in a preterm neonate presenting with cholestsis but without any identifiable adrenal or extra-adrenal primary.
{"title":"Cholestasis and congenital neuroblastoma in a preterm neonate: a case report","authors":"S. Puvabanditsin, Melissa Guillermo, Yi-Chou Cheng, Olga Sudol, R. Mehta","doi":"10.1515/crpm-2021-0089","DOIUrl":"https://doi.org/10.1515/crpm-2021-0089","url":null,"abstract":"Abstract Objectives Neuroblastoma (NB) is one of the most common tumor during perinatal period. The clinical features of NB occurring in fetuses and neonates differ from that in the older age groups. Frequently, Congenital neuroblastomas are incidentally detected prenatally. Clinical presentations of NBs in neonates are highy variable. Case presentation A 24-day old preterm 32 weeks’ gestation male neonate developed cholestasis that lead to the diagnosis of stage MS neuroblastoma. There was no NB primary site identified. Conclusions To the best of our knowledge, this is the first case report of metastatic NB (Stage MS) in a preterm neonate presenting with cholestsis but without any identifiable adrenal or extra-adrenal primary.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"10 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2022-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78453215","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}
Yang Cao, Dandan Hu, Peng Yun, Xinwei Huang, Yan Chen, Fangping Li
Abstract Objectives Gitelman syndrome is a rare salt-losing tubulopathy caused by inactivating mutations in the SLC12A3 gene, which is expressed in the distal convoluted tubule and accounts for 5–10% of renal sodium reabsorption. Atypical symptoms and insidious conditions generally delay diagnosis until childhood or even adulthood. Here, we report the case of a 22-year-old Chinese woman who was admitted to our endocrinology department for severe hypokalemia during pregnancy. Case presentation The patient had no specific symptoms but exhibited hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, hyperreninemia, hyperaldosteronism, and normal blood pressure. Together, these symptoms indicated the clinical diagnosis of Gitelman syndrome, which was confirmed by genetic analysis. Many drugs have limited safety data during early pregnancy, and optimum potassium and magnesium levels are necessary for a successful pregnancy. Conclusions Diagnosis and management of Gitelman syndrome are crucial during pregnancy to ensure the safety of the mother and fetus, especially during the first trimester.
{"title":"Gitelman syndrome diagnosed in the first trimester of pregnancy: a case report and literature review","authors":"Yang Cao, Dandan Hu, Peng Yun, Xinwei Huang, Yan Chen, Fangping Li","doi":"10.1515/crpm-2021-0075","DOIUrl":"https://doi.org/10.1515/crpm-2021-0075","url":null,"abstract":"Abstract Objectives Gitelman syndrome is a rare salt-losing tubulopathy caused by inactivating mutations in the SLC12A3 gene, which is expressed in the distal convoluted tubule and accounts for 5–10% of renal sodium reabsorption. Atypical symptoms and insidious conditions generally delay diagnosis until childhood or even adulthood. Here, we report the case of a 22-year-old Chinese woman who was admitted to our endocrinology department for severe hypokalemia during pregnancy. Case presentation The patient had no specific symptoms but exhibited hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, hyperreninemia, hyperaldosteronism, and normal blood pressure. Together, these symptoms indicated the clinical diagnosis of Gitelman syndrome, which was confirmed by genetic analysis. Many drugs have limited safety data during early pregnancy, and optimum potassium and magnesium levels are necessary for a successful pregnancy. Conclusions Diagnosis and management of Gitelman syndrome are crucial during pregnancy to ensure the safety of the mother and fetus, especially during the first trimester.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"8 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2022-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83521144","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}
Pub Date : 2022-06-07eCollection Date: 2022-01-01DOI: 10.1515/crpm-2021-0013
Josef Jackson, Verghese George, Jennifer McKinney, Karin A Fox
Objectives: Placental abruption occurs when a normally implanted placenta prematurely separates, causing rupture of decidual spiral arteries and retroplacental hemorrhage. Estimates place the incidence of placental abruption somewhere between 0.22% and 1% of all deliveries. Clinical abruption represents a spectrum from mild to the most severe form, in which blood can extravasate into or through the myometrium, the broad ligament, or the peritoneum, causing the uterus and surrounding structures to take on a blue discoloration. This phenomenon is a clinical entity known as Couvelaire uterus, so named because it was first described by French physician Alexandre Couvelaire in the early 20th century as "uteroplacental apoplexy." Its incidence is difficult to estimate because it has classically been diagnosed only by direct intraoperative visualization. Imaging is not usually indicated in this clinical setting, so radiologic correlation with operative findings has not been previously described.
Case presentation: In this report, we discuss the case of a multipara who presented with abdominal pain and vaginal discharge several days after a classical cesarean delivery. Her prolonged and complex clinical course led to evaluation via several radiologic modalities. At first, a focal placenta accreta or retained products of conception were suspected, however these diagnoses did not correlate with the patient's reported intraoperative findings of a clean endometrial cavity or with histopathology that was consistent with massive abruption.
Conclusions: The clinical presentation and features identified on multimodal imaging were ultimately most consistent with the patient's intraoperative diagnosis of Couvelaire uterus.
{"title":"Multimodal postpartum imaging of a severe case of Couvelaire uterus.","authors":"Josef Jackson, Verghese George, Jennifer McKinney, Karin A Fox","doi":"10.1515/crpm-2021-0013","DOIUrl":"10.1515/crpm-2021-0013","url":null,"abstract":"<p><strong>Objectives: </strong>Placental abruption occurs when a normally implanted placenta prematurely separates, causing rupture of decidual spiral arteries and retroplacental hemorrhage. Estimates place the incidence of placental abruption somewhere between 0.22% and 1% of all deliveries. Clinical abruption represents a spectrum from mild to the most severe form, in which blood can extravasate into or through the myometrium, the broad ligament, or the peritoneum, causing the uterus and surrounding structures to take on a blue discoloration. This phenomenon is a clinical entity known as Couvelaire uterus, so named because it was first described by French physician Alexandre Couvelaire in the early 20th century as \"uteroplacental apoplexy.\" Its incidence is difficult to estimate because it has classically been diagnosed only by direct intraoperative visualization. Imaging is not usually indicated in this clinical setting, so radiologic correlation with operative findings has not been previously described.</p><p><strong>Case presentation: </strong>In this report, we discuss the case of a multipara who presented with abdominal pain and vaginal discharge several days after a classical cesarean delivery. Her prolonged and complex clinical course led to evaluation via several radiologic modalities. At first, a focal placenta accreta or retained products of conception were suspected, however these diagnoses did not correlate with the patient's reported intraoperative findings of a clean endometrial cavity or with histopathology that was consistent with massive abruption.</p><p><strong>Conclusions: </strong>The clinical presentation and features identified on multimodal imaging were ultimately most consistent with the patient's intraoperative diagnosis of Couvelaire uterus.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"11 1","pages":"20210013"},"PeriodicalIF":0.1,"publicationDate":"2022-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9188327/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40624048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Margarita Álvarez-de-la-Rosa Rodríguez, Mercedes Hernández-Suárez, A. Padilla-Pérez, Ylenia Dévora-Cabrera, Walter Plasencia Acevedo
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.
{"title":"Fetal intracranial hemorrhage in a case of 16p microdeletion","authors":"Margarita Álvarez-de-la-Rosa Rodríguez, Mercedes Hernández-Suárez, A. Padilla-Pérez, Ylenia Dévora-Cabrera, Walter Plasencia Acevedo","doi":"10.1515/crpm-2021-0064","DOIUrl":"https://doi.org/10.1515/crpm-2021-0064","url":null,"abstract":"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.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"39 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83851483","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}
L. F. Capera, Rafael L. Aragón Mendoza, Roberto Gallo Roa, Viviana Dávila Romero
Abstract Objectives The true incidence of anaplastic ganglioglioma during pregnancy is extremely rare, very few cases have been reported in the literature. Case presentation This is a report of a case of anaplastic ganglioglioma diagnosed in pregnancy. The patient is a 23-year-old primigravida who presented at 19 weeks of gestation headache and a convulsive episode. Her workup revealed a rare cerebral tumor that progressed to a neurological decline and died during the postpartum period. Conclusions Anaplastic ganglioglioma is an aggressive counterpart of Glial tumors; in pregnancy they are rare and symptoms are nonspecific. The outcome for the mother in this case fatal and a protocol for these cases has not yet been reported.
{"title":"Anaplastic ganglioglioma in pregnancy a cause of cerebral edema and maternal death","authors":"L. F. Capera, Rafael L. Aragón Mendoza, Roberto Gallo Roa, Viviana Dávila Romero","doi":"10.1515/crpm-2022-0002","DOIUrl":"https://doi.org/10.1515/crpm-2022-0002","url":null,"abstract":"Abstract Objectives The true incidence of anaplastic ganglioglioma during pregnancy is extremely rare, very few cases have been reported in the literature. Case presentation This is a report of a case of anaplastic ganglioglioma diagnosed in pregnancy. The patient is a 23-year-old primigravida who presented at 19 weeks of gestation headache and a convulsive episode. Her workup revealed a rare cerebral tumor that progressed to a neurological decline and died during the postpartum period. Conclusions Anaplastic ganglioglioma is an aggressive counterpart of Glial tumors; in pregnancy they are rare and symptoms are nonspecific. The outcome for the mother in this case fatal and a protocol for these cases has not yet been reported.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"7 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88863251","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}
V. Foreste, C. Riccardi, B. Zizolfi, A. Gallo, A. Di Spiezio Sardo
Abstract Objectives To detect common congenital disorders in Holt-Oram syndrome. Case presentation We present a case of a 32 years old primigravida pregnant woman affected by Holt-Oram syndrome referred to our institution for second trimester routine anatomy scan. The ultrasound reported a bilateral aplasia radii, slightly curved ulna and bilateral twisted hand with four digital rays. A significant enlargement of the right atrium without tricuspid regurgitation was also detected. The patient refused the amniocentesis and the postnatal evaluation confirmed the diagnosis of Holt-Oram syndrome. Conclusions Holt-Oram syndrome is an autosomal dominant genetic condition. It is characterized by abnormalities in the bones of the upper limb and congenital heart malformation. The mutation can be inherited, but most cases result from a new mutation in patients without family history of the disorder.
{"title":"Prenatal diagnosis of Holt-Oram syndrome","authors":"V. Foreste, C. Riccardi, B. Zizolfi, A. Gallo, A. Di Spiezio Sardo","doi":"10.1515/crpm-2021-0058","DOIUrl":"https://doi.org/10.1515/crpm-2021-0058","url":null,"abstract":"Abstract Objectives To detect common congenital disorders in Holt-Oram syndrome. Case presentation We present a case of a 32 years old primigravida pregnant woman affected by Holt-Oram syndrome referred to our institution for second trimester routine anatomy scan. The ultrasound reported a bilateral aplasia radii, slightly curved ulna and bilateral twisted hand with four digital rays. A significant enlargement of the right atrium without tricuspid regurgitation was also detected. The patient refused the amniocentesis and the postnatal evaluation confirmed the diagnosis of Holt-Oram syndrome. Conclusions Holt-Oram syndrome is an autosomal dominant genetic condition. It is characterized by abnormalities in the bones of the upper limb and congenital heart malformation. The mutation can be inherited, but most cases result from a new mutation in patients without family history of the disorder.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"8 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82602366","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 Umbilical artery aneurysm, a rare structural anomaly of the umbilical cord, is frequently associated with fetal aneuploidy, fetal growth restriction and fetal demise. At present there are no definitive protocols or guidelines for the surveillance and management of this condition. Case presentation The index case is an 18-year-old primigravida who had an ultrasound at 35 weeks and 5 days gestation due to lagging symphysio-fundal height measurement. The ultrasound scan revealed a normal fetus with estimated fetal weight that was appropriate for gestational age. There was a cystic structure with internal echoes originating from the placenta at the point of the umbilical cord insertion, which was determined to be a 1.9 × 1.8 cm umbilical artery aneurysm on 3D and Doppler imaging. On follow up imaging the aneurysm had increased in size and measured 3.06 × 1.79 cm. The patient subsequently had a cesarean section delivery of a live female. Karyotyping subsequently revealed 46 XX. Conclusions A total of 15 cases of umbilical artery aneurysm have been reported in the literature to date, of which there were 5 live born infants with normal karyotype. The remaining 10 cases were intra-uterine fetal demise or trisomy 18 with subsequent neonatal deaths. When monitoring the aneurysms with ultrasound, change in size and Doppler indices play a pivotal role in helping to determine time and mode of delivery and thus allow for a favorable perinatal outcome.
{"title":"Umbilical artery aneurysm without aneuploidy and delivery of a live neonate","authors":"G. Lewis, J. Dawkins, Xiangna Tang","doi":"10.1515/crpm-2021-0091","DOIUrl":"https://doi.org/10.1515/crpm-2021-0091","url":null,"abstract":"Abstract Objectives Umbilical artery aneurysm, a rare structural anomaly of the umbilical cord, is frequently associated with fetal aneuploidy, fetal growth restriction and fetal demise. At present there are no definitive protocols or guidelines for the surveillance and management of this condition. Case presentation The index case is an 18-year-old primigravida who had an ultrasound at 35 weeks and 5 days gestation due to lagging symphysio-fundal height measurement. The ultrasound scan revealed a normal fetus with estimated fetal weight that was appropriate for gestational age. There was a cystic structure with internal echoes originating from the placenta at the point of the umbilical cord insertion, which was determined to be a 1.9 × 1.8 cm umbilical artery aneurysm on 3D and Doppler imaging. On follow up imaging the aneurysm had increased in size and measured 3.06 × 1.79 cm. The patient subsequently had a cesarean section delivery of a live female. Karyotyping subsequently revealed 46 XX. Conclusions A total of 15 cases of umbilical artery aneurysm have been reported in the literature to date, of which there were 5 live born infants with normal karyotype. The remaining 10 cases were intra-uterine fetal demise or trisomy 18 with subsequent neonatal deaths. When monitoring the aneurysms with ultrasound, change in size and Doppler indices play a pivotal role in helping to determine time and mode of delivery and thus allow for a favorable perinatal outcome.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"44 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75284510","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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