Hiba J Mustafa, Ali Javinani, Makayla L Morning, Francesco D'Antonio, Giorgio Pagani, Poonam M Puranik, Asma Khalil, Alireza A Shamshirsaz
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The meta-analysis included 26 studies reporting on 354 fetuses. Prenatally, 14% (95% CI 4-36) had pericardial effusion, 13% (95% CI 6-27) had arrhythmia, 16% (95% CI 7-31) had outflow tract obstruction, and 10% (95% CI 4-21) had hydrops. Fetal demise occurred in 12% (95% CI 5-30). Before delivery, tumor size reduction was noted in 13%, and after birth in 58%. Following birth, 8% (95% CI 3-14) had neonatal death and 9% (95% 4-17) required cardiac surgery. 60% (95% CI 41-79) of cases were diagnosed with tuberous sclerosis. Seizures were reported only in cases with a tuberous sclerosis diagnosis (41/71 infants). For the 9 studies reporting all together on 11 fetuses with tuberous sclerosis receiving prenatal mTORi, they showed improvement in the size of cardiac rhabdomyoma as well as outflow obstruction and none had fetal demise or neonatal death, and none required postnatal cardiac surgery.</p><p><strong>Conclusions: </strong>We report on the natural history of prenatal cardiac rhabdomyoma, including characteristics, progression, and survival. We report 11 fetuses with tuberous sclerosis and cardiac rhabdomyoma receiving prenatal mTORi, showing promising results.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7000,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Characteristics and Outcomes of Fetal Cardiac Rhabdomyoma With or Without mTOR Inhibitors, a Systematic Review and Meta-Analysis.\",\"authors\":\"Hiba J Mustafa, Ali Javinani, Makayla L Morning, Francesco D'Antonio, Giorgio Pagani, Poonam M Puranik, Asma Khalil, Alireza A Shamshirsaz\",\"doi\":\"10.1002/pd.6640\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objectives: </strong>To investigate the characteristics and outcomes of fetal cardiac rhabdomyoma with or without prenatal use of mammalian target of rapamycin inhibitor (mTORi).</p><p><strong>Search strategy: </strong>We systematically searched PubMed, Scopus, and Web of Science until June 2023.</p><p><strong>Selection criteria: </strong>Studies reporting on pregnancies with fetal cardiac rhabdomyoma were included.</p><p><strong>Data collection and analysis: </strong>A meta-analysis of proportions was conducted only on studies that included three or more cases.</p><p><strong>Results: </strong>A systematic review included 61 studies reporting on 400 fetuses with cardiac rhabdomyoma, of which 52 studies (389 fetuses) had expectant management and 9 studies (11 fetuses) were managed with mTORi. The meta-analysis included 26 studies reporting on 354 fetuses. Prenatally, 14% (95% CI 4-36) had pericardial effusion, 13% (95% CI 6-27) had arrhythmia, 16% (95% CI 7-31) had outflow tract obstruction, and 10% (95% CI 4-21) had hydrops. Fetal demise occurred in 12% (95% CI 5-30). Before delivery, tumor size reduction was noted in 13%, and after birth in 58%. Following birth, 8% (95% CI 3-14) had neonatal death and 9% (95% 4-17) required cardiac surgery. 60% (95% CI 41-79) of cases were diagnosed with tuberous sclerosis. Seizures were reported only in cases with a tuberous sclerosis diagnosis (41/71 infants). 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引用次数: 0
摘要
目的:研究胎儿心脏横纹肌瘤的特征和预后:研究产前使用或不使用哺乳动物雷帕霉素靶抑制剂(mTORi)的胎儿心脏横纹肌瘤的特征和结局:我们系统地检索了PubMed、Scopus和Web of Science,直至2023年6月:数据收集与分析:数据收集和分析:仅对包含三个或三个以上病例的研究进行比例荟萃分析:结果:系统综述纳入了61项研究,报告了400名患有心脏横纹肌瘤的胎儿,其中52项研究(389名胎儿)采用了期待疗法,9项研究(11名胎儿)采用了mTORi疗法。荟萃分析包括 26 项研究,报告了 354 个胎儿的情况。产前,14%(95% CI 4-36)的胎儿出现心包积液,13%(95% CI 6-27)的胎儿出现心律失常,16%(95% CI 7-31)的胎儿出现流出道梗阻,10%(95% CI 4-21)的胎儿出现肾积水。12%(95% CI 5-30)的胎儿死亡。分娩前,13%的患者肿瘤缩小,分娩后,58%的患者肿瘤缩小。出生后,8%(95% CI 3-14)的新生儿死亡,9%(95% CI 4-17)的新生儿需要进行心脏手术。60%(95% CI 41-79)的病例被诊断为结节性硬化症。只有确诊为结节性硬化症的病例(41/71 例婴儿)才有癫痫发作的报告。9项研究共报告了11例接受产前mTORi治疗的结节性硬化症胎儿,结果显示,这些胎儿的心脏横纹肌瘤大小和流出道梗阻均有所改善,无一例胎儿死亡或新生儿死亡,也无一例需要进行产后心脏手术:我们报告了产前心脏横纹肌瘤的自然史,包括特征、进展和存活率。我们报告了11名患有结节性硬化症和心脏横纹肌瘤的胎儿接受产前mTORi治疗的情况,结果令人鼓舞。
Characteristics and Outcomes of Fetal Cardiac Rhabdomyoma With or Without mTOR Inhibitors, a Systematic Review and Meta-Analysis.
Objectives: To investigate the characteristics and outcomes of fetal cardiac rhabdomyoma with or without prenatal use of mammalian target of rapamycin inhibitor (mTORi).
Search strategy: We systematically searched PubMed, Scopus, and Web of Science until June 2023.
Selection criteria: Studies reporting on pregnancies with fetal cardiac rhabdomyoma were included.
Data collection and analysis: A meta-analysis of proportions was conducted only on studies that included three or more cases.
Results: A systematic review included 61 studies reporting on 400 fetuses with cardiac rhabdomyoma, of which 52 studies (389 fetuses) had expectant management and 9 studies (11 fetuses) were managed with mTORi. The meta-analysis included 26 studies reporting on 354 fetuses. Prenatally, 14% (95% CI 4-36) had pericardial effusion, 13% (95% CI 6-27) had arrhythmia, 16% (95% CI 7-31) had outflow tract obstruction, and 10% (95% CI 4-21) had hydrops. Fetal demise occurred in 12% (95% CI 5-30). Before delivery, tumor size reduction was noted in 13%, and after birth in 58%. Following birth, 8% (95% CI 3-14) had neonatal death and 9% (95% 4-17) required cardiac surgery. 60% (95% CI 41-79) of cases were diagnosed with tuberous sclerosis. Seizures were reported only in cases with a tuberous sclerosis diagnosis (41/71 infants). For the 9 studies reporting all together on 11 fetuses with tuberous sclerosis receiving prenatal mTORi, they showed improvement in the size of cardiac rhabdomyoma as well as outflow obstruction and none had fetal demise or neonatal death, and none required postnatal cardiac surgery.
Conclusions: We report on the natural history of prenatal cardiac rhabdomyoma, including characteristics, progression, and survival. We report 11 fetuses with tuberous sclerosis and cardiac rhabdomyoma receiving prenatal mTORi, showing promising results.
期刊介绍:
Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling