Pub Date : 2024-10-22eCollection Date: 2024-07-01DOI: 10.1055/a-2434-5650
Nicholas Racchi, Lisa Bird, Samantha Mullan, William Schnettler, Nanci Billock
Background The incidence of uterine leiomyomas, or fibroids, affecting pregnant individuals is estimated to be 10%, but there are no guidelines or recommendations for fetal or maternal surveillance in pregnancies affected by them. Risks associated with fibroids during pregnancy include potential for pain, preterm birth, fetal growth restriction, higher cesarean delivery rate, fetal malpresentation, placenta abruption, and postpartum hemorrhage. Case Presentation This case describes a 26-year-old gravida 1 para 0 who presented at early term for severe abdominal pain and was found to have acute abdomen accompanied by a nonreassuring fetal heart rate tracing. With emergent cesarean delivery, it was found that the patient was hemorrhaging from a ruptured vessel of a pedunculated fibroid and myomectomy was subsequently performed. Conclusion While rare, hemorrhage from a uterine fibroid should be considered a part of the differential diagnosis of abdominal pain in pregnant patients with fibroids, particularly when accompanied by concurrent indicators such as free fluid, hypotension/tachycardia, or concerning changes in fetal heart rate, especially in a patient without risk factors for uterine rupture.
{"title":"Hemorrhaging Uterine Fibroid Leading to Emergent Early Term Cesarean Delivery: A Case Report.","authors":"Nicholas Racchi, Lisa Bird, Samantha Mullan, William Schnettler, Nanci Billock","doi":"10.1055/a-2434-5650","DOIUrl":"https://doi.org/10.1055/a-2434-5650","url":null,"abstract":"<p><p><b>Background</b> The incidence of uterine leiomyomas, or fibroids, affecting pregnant individuals is estimated to be 10%, but there are no guidelines or recommendations for fetal or maternal surveillance in pregnancies affected by them. Risks associated with fibroids during pregnancy include potential for pain, preterm birth, fetal growth restriction, higher cesarean delivery rate, fetal malpresentation, placenta abruption, and postpartum hemorrhage. <b>Case Presentation</b> This case describes a 26-year-old gravida 1 para 0 who presented at early term for severe abdominal pain and was found to have acute abdomen accompanied by a nonreassuring fetal heart rate tracing. With emergent cesarean delivery, it was found that the patient was hemorrhaging from a ruptured vessel of a pedunculated fibroid and myomectomy was subsequently performed. <b>Conclusion</b> While rare, hemorrhage from a uterine fibroid should be considered a part of the differential diagnosis of abdominal pain in pregnant patients with fibroids, particularly when accompanied by concurrent indicators such as free fluid, hypotension/tachycardia, or concerning changes in fetal heart rate, especially in a patient without risk factors for uterine rupture.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495965/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142492999","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}
Pub Date : 2024-10-11eCollection Date: 2024-07-01DOI: 10.1055/a-2413-2465
Nigel Madden, Nevin Kamal, Jared Friedman, Priya Freaney, Susan E Gerber, Emily D Szmuilowicz
Background Pregnant people with baseline hypertriglyceridemia are at increased risk of severe hypertriglyceridemia and the associated complications, yet there are no formal recommendations to guide management of these patients during pregnancy. Case We report a case of a patient with presumed familial hypertriglyceridemia who was taken off triglyceride-lowering medications preconception and developed acute pancreatitis at 23 weeks of gestation. She was managed with a very-low-fat diet, exercise, fenofibrate, omega-3-fatty acids, pravastatin, insulin infusion, and plasmapheresis. She delivered at 33 weeks of gestation after presenting with a placental abruption and subcapsular liver hematoma associated with HELLP (hemolysis, elevated liver enzyme levels, and low platelet) syndrome. Conclusion While rare in pregnancy, severe hypertriglyceridemia is associated with serious maternal risks. Preconception and antepartum obstetric management should incorporate shared decision-making considering both the potential fetal risks of treatment and the objective maternal risks of untreated disease.
{"title":"Obstetrical Management of Severe Hypertriglyceridemia in Pregnancy: A Case Report.","authors":"Nigel Madden, Nevin Kamal, Jared Friedman, Priya Freaney, Susan E Gerber, Emily D Szmuilowicz","doi":"10.1055/a-2413-2465","DOIUrl":"https://doi.org/10.1055/a-2413-2465","url":null,"abstract":"<p><p><b>Background</b> Pregnant people with baseline hypertriglyceridemia are at increased risk of severe hypertriglyceridemia and the associated complications, yet there are no formal recommendations to guide management of these patients during pregnancy. <b>Case</b> We report a case of a patient with presumed familial hypertriglyceridemia who was taken off triglyceride-lowering medications preconception and developed acute pancreatitis at 23 weeks of gestation. She was managed with a very-low-fat diet, exercise, fenofibrate, omega-3-fatty acids, pravastatin, insulin infusion, and plasmapheresis. She delivered at 33 weeks of gestation after presenting with a placental abruption and subcapsular liver hematoma associated with HELLP (hemolysis, elevated liver enzyme levels, and low platelet) syndrome. <b>Conclusion</b> While rare in pregnancy, severe hypertriglyceridemia is associated with serious maternal risks. Preconception and antepartum obstetric management should incorporate shared decision-making considering both the potential fetal risks of treatment and the objective maternal risks of untreated disease.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11469918/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142455958","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}
Pub Date : 2024-10-08eCollection Date: 2024-07-01DOI: 10.1055/a-2415-5318
Anna E Sagaser, Ashley Reeves, Tamara Arnautovic, Juan Sanchez-Esteban
The rapid identification and management of air leak syndrome in the neonatal intensive care unit is critical to prevent and/or minimize short- and long-term complications. Traditionally, chest X-ray is used to diagnose pneumothorax or pneumomediastinum. However, point-of-care ultrasound is increasingly being used for procedural and diagnostic purposes. Current ultrasound guidelines recommend specific criteria to diagnose pneumothorax in newborns including sharp A-lines, absence of B-lines, lack of shimmering of the pleural line, and the presence of a lung point. Pneumomediastinum may have similar ultrasound characteristics. In this case report, we present two cases of pneumomediastinum in newborns, describe the associated ultrasound findings, and review some of the criteria to differentiate from pneumothorax, including the presence of a still lung point. A high index of suspicion for pneumomediastinum should be maintained when using ultrasound to diagnose air leak given the overlapping sonographic features with pneumothorax. This distinction is of particular importance if evacuation of air by needle thoracentesis or the placement of a chest tube is under consideration.
在新生儿重症监护病房快速识别和处理漏气综合征对于预防和/或减少短期和长期并发症至关重要。传统上,胸部 X 射线用于诊断气胸或气胸膜。然而,护理点超声波越来越多地被用于程序和诊断目的。目前的超声波指南推荐了诊断新生儿气胸的具体标准,包括 A 线清晰、无 B 线、胸膜线无闪烁以及肺点的存在。气胸也可能具有类似的超声特征。在本病例报告中,我们介绍了两例新生儿气腹病例,描述了相关的超声检查结果,并回顾了与气胸鉴别的一些标准,包括是否存在静止的肺点。鉴于超声波与气胸的声像图特征重叠,在使用超声波诊断气胸时应高度怀疑气胸。如果考虑通过针刺胸腔穿刺术排空空气或放置胸管,这种区分尤为重要。
{"title":"Distinction between Pneumothorax and Pneumomediastinum Using Point of Care Ultrasound (POCUS): Role of Still Lung Point.","authors":"Anna E Sagaser, Ashley Reeves, Tamara Arnautovic, Juan Sanchez-Esteban","doi":"10.1055/a-2415-5318","DOIUrl":"10.1055/a-2415-5318","url":null,"abstract":"<p><p>The rapid identification and management of air leak syndrome in the neonatal intensive care unit is critical to prevent and/or minimize short- and long-term complications. Traditionally, chest X-ray is used to diagnose pneumothorax or pneumomediastinum. However, point-of-care ultrasound is increasingly being used for procedural and diagnostic purposes. Current ultrasound guidelines recommend specific criteria to diagnose pneumothorax in newborns including sharp A-lines, absence of B-lines, lack of shimmering of the pleural line, and the presence of a lung point. Pneumomediastinum may have similar ultrasound characteristics. In this case report, we present two cases of pneumomediastinum in newborns, describe the associated ultrasound findings, and review some of the criteria to differentiate from pneumothorax, including the presence of a still lung point. A high index of suspicion for pneumomediastinum should be maintained when using ultrasound to diagnose air leak given the overlapping sonographic features with pneumothorax. This distinction is of particular importance if evacuation of air by needle thoracentesis or the placement of a chest tube is under consideration.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11461096/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142396916","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}
Pub Date : 2024-09-30eCollection Date: 2024-07-01DOI: 10.1055/a-2414-7696
Alvina Liang, Mary Boluwatife Idowu, Steven Joseph Eskind, Soha S Patel
Necrotizing fasciitis (NF) is a rare but life-threatening disease characterized by rapidly spreading inflammation and subsequent necrosis of the fascial planes and surrounding tissues. Limited literature has described NF as involving an adjacent solid organ beyond fascial planes that has required its removal. We present a case of a 25-year-old white female who underwent a cesarean section and subsequently developed NF involving her uterus and abdominal wall that necessitated a total abdominal hysterectomy, serial surgical debridement of necrotic tissue, and wound vacuum assisted closure (VAC) placement. Her pathology report described her uterus infiltrated by polybacteria, confirming a diagnosis of NF. Despite NF's progressive nature and potential lethality, NF can be challenging to diagnose clinically due to a lack of pathognomonic signs and symptoms. However, early detection of NF with the aid of Laboratory Risk Indicator for Necrotizing Fasciitis score calculation using laboratory values such as white blood cell count, hemoglobin, sodium, glucose, serum creatinine, and C-reactive protein is critical for optimal patient outcomes. A multidisciplinary team approach is vital in treating these patients to debride necrotizing tissue and control the potential sequelae from the infection, particularly for postpartum patients.
{"title":"Necrotizing Fasciitis Post-Cesarean Section Leading to Transabdominal Hysterectomy.","authors":"Alvina Liang, Mary Boluwatife Idowu, Steven Joseph Eskind, Soha S Patel","doi":"10.1055/a-2414-7696","DOIUrl":"10.1055/a-2414-7696","url":null,"abstract":"<p><p>Necrotizing fasciitis (NF) is a rare but life-threatening disease characterized by rapidly spreading inflammation and subsequent necrosis of the fascial planes and surrounding tissues. Limited literature has described NF as involving an adjacent solid organ beyond fascial planes that has required its removal. We present a case of a 25-year-old white female who underwent a cesarean section and subsequently developed NF involving her uterus and abdominal wall that necessitated a total abdominal hysterectomy, serial surgical debridement of necrotic tissue, and wound vacuum assisted closure (VAC) placement. Her pathology report described her uterus infiltrated by polybacteria, confirming a diagnosis of NF. Despite NF's progressive nature and potential lethality, NF can be challenging to diagnose clinically due to a lack of pathognomonic signs and symptoms. However, early detection of NF with the aid of Laboratory Risk Indicator for Necrotizing Fasciitis score calculation using laboratory values such as white blood cell count, hemoglobin, sodium, glucose, serum creatinine, and C-reactive protein is critical for optimal patient outcomes. A multidisciplinary team approach is vital in treating these patients to debride necrotizing tissue and control the potential sequelae from the infection, particularly for postpartum patients.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11442013/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142339405","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}
Pub Date : 2024-09-30eCollection Date: 2024-07-01DOI: 10.1055/s-0044-1791525
Stephanie Rodriguez, Phillip J DeChristopher, Kristen Krum, Ann Lal
Background The rhesus factor D (RhD)-negative patients who give birth to an RhD-positive newborn or who are otherwise exposed to RhD-positive red blood cells are at risk of developing anti-D antibodies. These antibodies may cause hemolytic disease of the fetus and newborn (HDFN). During pregnancy, prevention of alloimmunization is completed with a Rho(D) immune globulin (RhIg). Cases We report two cases, where obese patients developed alloimmunization, with high neonatal titers, after appropriate RhIG prophylaxis during the index pregnancy. Conclusion Our cases demonstrate cases of anti D-alloimmunization in an index pregnancy, with high neonatal titers. Both patients are obese, with BMI > 35 mg/m 2 . Key Points RhIG can be administered via intramuscular or intravenous formulations. Overall, it appears that both formulations are equally effective. The optimal administration, especially with obese women, is not clearly established.Our cases demonstrate that obesity is a risk factor for failure of RhIG, and could lead to an increase in HDFN.
{"title":"Anti-D Alloimmunization in Index Pregnancy after Appropriate Rho(D) Immune Globulin Injection in Two Obese Rh-Negative Patients.","authors":"Stephanie Rodriguez, Phillip J DeChristopher, Kristen Krum, Ann Lal","doi":"10.1055/s-0044-1791525","DOIUrl":"10.1055/s-0044-1791525","url":null,"abstract":"<p><p><b>Background</b> The rhesus factor D (RhD)-negative patients who give birth to an RhD-positive newborn or who are otherwise exposed to RhD-positive red blood cells are at risk of developing anti-D antibodies. These antibodies may cause hemolytic disease of the fetus and newborn (HDFN). During pregnancy, prevention of alloimmunization is completed with a Rho(D) immune globulin (RhIg). <b>Cases</b> We report two cases, where obese patients developed alloimmunization, with high neonatal titers, after appropriate RhIG prophylaxis during the index pregnancy. <b>Conclusion</b> Our cases demonstrate cases of anti D-alloimmunization in an index pregnancy, with high neonatal titers. Both patients are obese, with BMI > 35 mg/m <sup>2</sup> . <b>Key Points</b> RhIG can be administered via intramuscular or intravenous formulations. Overall, it appears that both formulations are equally effective. The optimal administration, especially with obese women, is not clearly established.Our cases demonstrate that obesity is a risk factor for failure of RhIG, and could lead to an increase in HDFN.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11442014/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142339403","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}
Pub Date : 2024-09-30eCollection Date: 2024-07-01DOI: 10.1055/a-2413-2722
Bilel Jerbi, Hajer Chourou, Rim Ben Aziza, Wafa Belhadj Ammar, Samia Kacem, Radhouane Achour
Introduction Uterine rupture represents one of the most severe obstetric affections. It is defined as a complete or a partial tearing of the uterine wall. Women with a prior cesarean section are reported to have a higher risk of having this situation. Moreover, maternal death and most of all middle- and long-term adverse consequences remain a great preoccupation. On another scale, neonatal death and ulterior deterioration remain very high, especially in low-income countries. Case Description A 24-year-old woman with a history of previous cesarean section presented at 35 weeks of gestation with pelvic pain without bleeding. Emergency cesarean section revealed a complete uterine rupture at the scar site from the previous cesarean section. Remarkably, the fetus managed to seal the rupture using the right temporal region, forearm, and right leg, avoiding significant complications. The mother had an uncomplicated postoperative course and was discharged after 48 hours of surveillance. Conclusion We present with this case an extraordinary case of a uterine rupture where both mother and child had a good outcome. This rare evolution was reported only one time in literature. For this reason, a history of caesarean delivery might present a huge challenge for obstetricians and neonates.
{"title":"Early Challenges: A Case Report of a Premature Baby with Down Syndrome and Uterine Rupture.","authors":"Bilel Jerbi, Hajer Chourou, Rim Ben Aziza, Wafa Belhadj Ammar, Samia Kacem, Radhouane Achour","doi":"10.1055/a-2413-2722","DOIUrl":"10.1055/a-2413-2722","url":null,"abstract":"<p><p><b>Introduction</b> Uterine rupture represents one of the most severe obstetric affections. It is defined as a complete or a partial tearing of the uterine wall. Women with a prior cesarean section are reported to have a higher risk of having this situation. Moreover, maternal death and most of all middle- and long-term adverse consequences remain a great preoccupation. On another scale, neonatal death and ulterior deterioration remain very high, especially in low-income countries. <b>Case Description</b> A 24-year-old woman with a history of previous cesarean section presented at 35 weeks of gestation with pelvic pain without bleeding. Emergency cesarean section revealed a complete uterine rupture at the scar site from the previous cesarean section. Remarkably, the fetus managed to seal the rupture using the right temporal region, forearm, and right leg, avoiding significant complications. The mother had an uncomplicated postoperative course and was discharged after 48 hours of surveillance. <b>Conclusion</b> We present with this case an extraordinary case of a uterine rupture where both mother and child had a good outcome. This rare evolution was reported only one time in literature. For this reason, a history of caesarean delivery might present a huge challenge for obstetricians and neonates.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11442015/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142339404","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}
Pub Date : 2024-09-12eCollection Date: 2024-07-01DOI: 10.1055/a-2388-3190
Yurong Lu, Yijia Tian, Jinxiu Liu, Yifan Wang, Xietong Wang
Introduction Osteogenesis imperfecta (OI) is the most common monogenic inherited skeletal dysplasia disorder. Mutations in the COL1A1/COL1A2 gene cause ∼85 to 90% of OI. Studies of cases have demonstrated that missense mutations are the primary cause of OI, with poor prognosis. Case Description We report the case of a fetus with skeletal abnormalities and subcutaneous edema. Ultrasound imaging revealed suspected skeletal malformations, including hypoplastic long bones of all four limbs, poorly ossified calvarium, unrevealing nasal bones, and generalized subcutaneous edema. Whole-exome sequencing revealed a heterozygous mutation in COL1A1 (c.2174G > T/p.(G725V), NM_000088.3). According to the American College of Medical Genetics and Genomics guidelines, it was determined to be a pathogenic variant and identified as a de novo variant (PS2 + PP3_strong + PM2_supporting), which has not been reported in the HGMD, gnomAD, ClinVar, or other databases. This variation causes a glycine-to-valine substitution at position 725, located within the Gly-Xaa-Yaa repeat in the helical domain of the collagen molecule. Conclusion The COL1A1 mutation (c.2174G > T/p.(G725V), NM_000088.3) is a novel pathogenic variant of severe OI. Our study expanded the OI COL1A1 gene variation profiles in the Chinese population and provided a theoretical foundation for prenatal diagnosis, genetic counseling, and obstetric management.
导言 成骨不全症(OI)是最常见的单基因遗传性骨骼发育不良疾病。COL1A1/COL1A2基因突变导致85%至90%的OI。对病例的研究表明,错义突变是导致 OI 的主要原因,且预后不良。病例描述 我们报告了一例骨骼畸形和皮下水肿的胎儿。超声成像发现疑似骨骼畸形,包括四肢长骨发育不良、骨化不良的颅骨、不显露的鼻骨和全身皮下水肿。全外显子组测序发现,COL1A1存在杂合突变(c.2174G > T/p.(G725V),NM_000088.3)。根据美国医学遗传学和基因组学学院(American College of Medical Genetics and Genomics)指南,该变异被确定为致病变异,并被鉴定为从头变异(PS2 + PP3_strong + PM2_supporting),该变异在 HGMD、gnomAD、ClinVar 或其他数据库中均未见报道。该变异导致位于胶原分子螺旋结构域 Gly-Xaa-Yaa 重复序列中的 725 位甘氨酸到缬氨酸的置换。结论 COL1A1 突变(c.2174G > T/p.(G725V),NM_000088.3)是重症 OI 的一种新型致病变异。我们的研究扩大了中国人群中 OI COL1A1 基因变异的范围,为产前诊断、遗传咨询和产科管理提供了理论基础。
{"title":"A <i>De novo</i> Mutation in the <i>COL1A1</i> Gene Leading to Severe Osteogenesis Imperfecta: Case Report and Review of the Literature.","authors":"Yurong Lu, Yijia Tian, Jinxiu Liu, Yifan Wang, Xietong Wang","doi":"10.1055/a-2388-3190","DOIUrl":"https://doi.org/10.1055/a-2388-3190","url":null,"abstract":"<p><p><b>Introduction</b> Osteogenesis imperfecta (OI) is the most common monogenic inherited skeletal dysplasia disorder. Mutations in the <i>COL1A1/COL1A2</i> gene cause ∼85 to 90% of OI. Studies of cases have demonstrated that missense mutations are the primary cause of OI, with poor prognosis. <b>Case Description</b> We report the case of a fetus with skeletal abnormalities and subcutaneous edema. Ultrasound imaging revealed suspected skeletal malformations, including hypoplastic long bones of all four limbs, poorly ossified calvarium, unrevealing nasal bones, and generalized subcutaneous edema. Whole-exome sequencing revealed a heterozygous mutation in <i>COL1A1</i> (c.2174G > T/p.(G725V), NM_000088.3). According to the American College of Medical Genetics and Genomics guidelines, it was determined to be a pathogenic variant and identified as a de novo variant (PS2 + PP3_strong + PM2_supporting), which has not been reported in the HGMD, gnomAD, ClinVar, or other databases. This variation causes a glycine-to-valine substitution at position 725, located within the Gly-Xaa-Yaa repeat in the helical domain of the collagen molecule. <b>Conclusion</b> The <i>COL1A1</i> mutation (c.2174G > T/p.(G725V), NM_000088.3) is a novel pathogenic variant of severe OI. Our study expanded the OI <i>COL1A1</i> gene variation profiles in the Chinese population and provided a theoretical foundation for prenatal diagnosis, genetic counseling, and obstetric management.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11392588/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142279016","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}
Pub Date : 2024-09-10eCollection Date: 2024-07-01DOI: 10.1055/a-2384-8058
Laura Reguero Cadilla, Carlos Villafuerte Santana, Nicolle Centazzo, Daniel Faustin
Background TRAP sequence occurs in monochorionic pregnancies consisting of one normal fetus and a non-viable fetus. The pump twin has an increased risk of developing high-output cardiac failure. Case 32-year-old G4P2012 with TRAP syndrome in current pregnancy presented to triage at 26 weeks with contractions and spotting. She had undergone RFA for selective reduction at another facility. Placental abruption was suspected and patient underwent a cesarean section. Twin A was delivered alive although she subsequently succumbed due to complications of prematurity. Conclusion This case highlights the importance of early detection and consistent prenatal care in the management of TRAP sequence. Further research of interventions associated with improved outcomes should be encouraged.
{"title":"Rare Case of Twin Reversed Arterial Perfusion <i>Acardius Acephalus</i> Subtype Seen in a Community-Based Hospital.","authors":"Laura Reguero Cadilla, Carlos Villafuerte Santana, Nicolle Centazzo, Daniel Faustin","doi":"10.1055/a-2384-8058","DOIUrl":"https://doi.org/10.1055/a-2384-8058","url":null,"abstract":"<p><p><b>Background</b> TRAP sequence occurs in monochorionic pregnancies consisting of one normal fetus and a non-viable fetus. The pump twin has an increased risk of developing high-output cardiac failure. <b>Case</b> 32-year-old G4P2012 with TRAP syndrome in current pregnancy presented to triage at 26 weeks with contractions and spotting. She had undergone RFA for selective reduction at another facility. Placental abruption was suspected and patient underwent a cesarean section. Twin A was delivered alive although she subsequently succumbed due to complications of prematurity. <b>Conclusion</b> This case highlights the importance of early detection and consistent prenatal care in the management of TRAP sequence. Further research of interventions associated with improved outcomes should be encouraged.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11387039/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142279017","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}
Pub Date : 2024-08-30eCollection Date: 2024-07-01DOI: 10.1055/a-2388-3298
Juan Xie, Yu Ling, Xiaoyu Zhou
Objective The primary purpose of this study was to assess the practicability of predeposit autologous blood donation (PABD) in the practice of Rh(D)-negative pregnant women. Materials and Methods A cohort of 405 Rh(D)-negative pregnant women who had a delivery in the comprehensive tertiary hospital in Nanjing was analyzed retrospectively, over 10 years. Results After PABD, 203 women experienced a slight drop in mean hemoglobin of 5.32 ± 0.5 g/L (PABD-associated anemia was not featured in our study). Thirteen women who received allogeneic blood might benefit from PABD practically. Conclusion PABD is applicable for Rh(D)-negative pregnant women, as it ensures the availability of the patient's blood in the event of perinatal hemorrhage, thus minimizing the need for transfusion from external sources. Despite the autologous blood reinfusion of low proportion, PABD could still serve as an alternative when allogeneic blood resources are scarce. However, one challenge in the future is to identify candidates who may benefit most from PABD. Also, more attention is needed to raise awareness of patient blood management. Recommended strategies include early screening and treatment of anemia, hemostasis promotion, and blood loss reduction. Replacement of allogeneic transfusion with autotransfusion could be referred to where feasible. We believe that PABD still has a promising potential for application in Rh(D)-negative pregnant women.
{"title":"Predeposit Autologous Blood Donation in Rh(D)-Negative Pregnant Women: A Single-Center Study.","authors":"Juan Xie, Yu Ling, Xiaoyu Zhou","doi":"10.1055/a-2388-3298","DOIUrl":"10.1055/a-2388-3298","url":null,"abstract":"<p><p><b>Objective</b> The primary purpose of this study was to assess the practicability of predeposit autologous blood donation (PABD) in the practice of Rh(D)-negative pregnant women. <b>Materials and Methods</b> A cohort of 405 Rh(D)-negative pregnant women who had a delivery in the comprehensive tertiary hospital in Nanjing was analyzed retrospectively, over 10 years. <b>Results</b> After PABD, 203 women experienced a slight drop in mean hemoglobin of 5.32 ± 0.5 g/L (PABD-associated anemia was not featured in our study). Thirteen women who received allogeneic blood might benefit from PABD practically. <b>Conclusion</b> PABD is applicable for Rh(D)-negative pregnant women, as it ensures the availability of the patient's blood in the event of perinatal hemorrhage, thus minimizing the need for transfusion from external sources. Despite the autologous blood reinfusion of low proportion, PABD could still serve as an alternative when allogeneic blood resources are scarce. However, one challenge in the future is to identify candidates who may benefit most from PABD. Also, more attention is needed to raise awareness of patient blood management. Recommended strategies include early screening and treatment of anemia, hemostasis promotion, and blood loss reduction. Replacement of allogeneic transfusion with autotransfusion could be referred to where feasible. We believe that PABD still has a promising potential for application in Rh(D)-negative pregnant women.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11364468/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142103548","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}
Pub Date : 2024-08-29eCollection Date: 2024-07-01DOI: 10.1055/a-2385-1263
Dana Senderoff Berger, Andre Robinson, Judith Chervenak, Kristen Thomas, Ranjini Srinivasan, Geeta Sharma, Ashley S Roman, Christina A Penfield, Meghana Limaye
We present a case of a vein of Galen aneurysmal malformation (VGAM), a rare congenital arteriovenous malformation, in one fetus of a monochorionic-diamniotic twin pregnancy. The diagnosis was made with color Doppler ultrasonography at 28 weeks and the affected fetus was found to have worsening cardiomegaly on subsequent fetal echocardiograms. She was emergently delivered at 32 weeks for abnormal fetal heart rate tracing of the affected twin. Magnetic resonance imaging of the brain findings after delivery demonstrated severe neurological injury; therefore, postnatal embolization was not performed. The neonate died on day of life 9. The cotwin survived without neurological complications. This is the first case in the literature of a VGAM diagnosed prenatally in a monochorionic-diamniotic twin pregnancy and demonstrates the challenge of delivery timing with prenatal diagnosis in a twin pregnancy.
{"title":"A Case of Vein of Galen Aneurysmal Malformation Diagnosed Prenatally in a Monochorionic-Diamniotic Twin Pregnancy.","authors":"Dana Senderoff Berger, Andre Robinson, Judith Chervenak, Kristen Thomas, Ranjini Srinivasan, Geeta Sharma, Ashley S Roman, Christina A Penfield, Meghana Limaye","doi":"10.1055/a-2385-1263","DOIUrl":"10.1055/a-2385-1263","url":null,"abstract":"<p><p>We present a case of a vein of Galen aneurysmal malformation (VGAM), a rare congenital arteriovenous malformation, in one fetus of a monochorionic-diamniotic twin pregnancy. The diagnosis was made with color Doppler ultrasonography at 28 weeks and the affected fetus was found to have worsening cardiomegaly on subsequent fetal echocardiograms. She was emergently delivered at 32 weeks for abnormal fetal heart rate tracing of the affected twin. Magnetic resonance imaging of the brain findings after delivery demonstrated severe neurological injury; therefore, postnatal embolization was not performed. The neonate died on day of life 9. The cotwin survived without neurological complications. This is the first case in the literature of a VGAM diagnosed prenatally in a monochorionic-diamniotic twin pregnancy and demonstrates the challenge of delivery timing with prenatal diagnosis in a twin pregnancy.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11361778/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142103546","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}