Fetal Diagnosis and Therapy最新文献

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Monochorionic monoamniotic multiple gestations with twin-twin transfusion syndrome: case series of 6 laser surgery patients and management considerations.
IF 1.6 3区 医学
Fetal Diagnosis and Therapy Pub Date : 2025-03-28 DOI: 10.1159/000545505
Jinnen Masri, Raphael C Sun, Sami R Chmait, Grace Hamadeh, Andrew H Chon
{"title":"Monochorionic monoamniotic multiple gestations with twin-twin transfusion syndrome: case series of 6 laser surgery patients and management considerations.","authors":"Jinnen Masri, Raphael C Sun, Sami R Chmait, Grace Hamadeh, Andrew H Chon","doi":"10.1159/000545505","DOIUrl":"https://doi.org/10.1159/000545505","url":null,"abstract":"<p><strong>Introduction: </strong>Twin-twin transfusion syndrome (TTTS) is a rare occurrence in monochorionic monoamniotic (MCMA) multiple gestations. Clinical management remains challenging due to increased technical difficulty of selective laser photocoagulation of communicating vessels and limited data regarding outcomes after laser surgery. Our objective is to present outcomes of monochorionic monoamniotic multiple gestations with TTTS who underwent laser surgery.</p><p><strong>Methods: </strong>Retrospective study of all MCMA multiple gestations between 2006 to 2024 across two institutions treated with laser surgery for TTTS. Results are presented as median (range).</p><p><strong>Results: </strong>Out of 1078 laser surgeries for TTTS, 6 (0.6%) were performed in MCMA gestations: 5 monochorionic monoamniotic twins and 1 dichorionic diamniotic triplet. The gestational age (GA) at diagnosis was 19.5 (16.9-22.3) weeks. Quintero Stage was II (n=3) and III (n=3). The placental cord insertion sites were proximal (< 4 cm apart) in 2 (33%) cases. Despite increased technical difficulty, laser surgery was successfully completed in all cases. One case required more than 1 trocar entry to adequately evaluate the complex vascular equator. The GA at delivery was 27.2 (23.6-31.7) weeks. Indications for delivery included placental abruption (n=2; 33%), fetal growth restriction (n=2; 33%), chorioamnionitis (n=1; 17%), and elective (n=1; 17%). Dual 30-day survivorship occurred in 5 (83%) patients and dual demise occurred in 1 (17%) patient.</p><p><strong>Conclusion: </strong>Laser surgery for TTTS in MCMA multiple gestations is technically feasible. However, outcomes are guarded compared to monochorionic diamniotic twins. Additional studies are needed to investigate the optimal management of TTTS in monoamniotic multiple gestations.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-14"},"PeriodicalIF":1.6,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Risk factors for spontaneous preterm delivery in monochorionic diamniotic pregnancies undergoing selective fetal reduction via radiofrequency ablation.
IF 1.6 3区 医学
Fetal Diagnosis and Therapy Pub Date : 2025-03-11 DOI: 10.1159/000545189
Shelly Soni, Juliana S Gebb, Christina Paidas Teefey, Julie S Moldenhauer, Nahla Khalek
{"title":"Risk factors for spontaneous preterm delivery in monochorionic diamniotic pregnancies undergoing selective fetal reduction via radiofrequency ablation.","authors":"Shelly Soni, Juliana S Gebb, Christina Paidas Teefey, Julie S Moldenhauer, Nahla Khalek","doi":"10.1159/000545189","DOIUrl":"https://doi.org/10.1159/000545189","url":null,"abstract":"<p><strong>Introduction: </strong>To identify risk factors for spontaneous preterm delivery (sPTD) before 32-, 34- and 37-weeks in a cohort of monochorionic diamniotic (MCDA) twin pregnancies undergoing selective fetal reduction (SFR) using radiofrequency ablation (RFA).</p><p><strong>Methods: </strong>A single center retrospective analysis of complex MCDA twin pregnancies managed with SFR via RFA between 2014-2023. Perioperative variables were compared between patients who had sPTD before and after 34 weeks and 37 weeks. We also compared variables for pregnancies that delivered before and after 32 weeks. Correlation analysis between gestational age at SFR and gestational age at delivery was performed. Kaplan-Meier survival analysis was created for time to 34 weeks grouped by different diagnostic indications and log-rank test was performed.</p><p><strong>Results: </strong>In the study cohort, the total rate of preterm delivery was 52.0% of these 46.9% pregnancies delivering spontaneously. The rate of sPTD before 34 weeks was 27.1% and before 32 weeks was 19.4%. There was a significantly higher proportion of pregnancies undergoing RFA for the indication of TTTS that delivered before 34 weeks (43.5% vs 22.6%, p=0.01). Also, a greater number of pregnancies undergoing RFA for the indication of TTTS delivered before 37 weeks spontaneously (35.7% vs 20.9%, p=0.04). A subgroup analysis of sPTD before 32 weeks was performed. Preoperative cervical length was the only independent predictor for delivery before 32 weeks on multiple regression after controlling for confounders. Gestational age at procedure did not correlate with gestational age at delivery (p=0.78). Kaplan-Meier curves showed that the proportion of pregnancies remaining undelivered from the time of RFA until 34 weeks' gestation was lower for the indication of TTTS.</p><p><strong>Conclusion: </strong>Preoperative indication of TTTS was associated with an increased risk of sPTD before 34 and 37 weeks in the MCDA twin population undergoing RFA. In contrast, preoperative cervical length was independently associated with sPTD before 32 weeks in the same population.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-17"},"PeriodicalIF":1.6,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143604440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Foetal Megacystis: A Practical Guide.
IF 1.6 3区 医学
Fetal Diagnosis and Therapy Pub Date : 2025-02-24 DOI: 10.1159/000543816
Vanessa El-Achi, Aniruddh Deshpande, Fergus Scott, Maria-Elisabeth Smet
{"title":"Foetal Megacystis: A Practical Guide.","authors":"Vanessa El-Achi, Aniruddh Deshpande, Fergus Scott, Maria-Elisabeth Smet","doi":"10.1159/000543816","DOIUrl":"10.1159/000543816","url":null,"abstract":"<p><strong>Background: </strong>Foetal megacystis is the enlargement of the foetal bladder seen on prenatal ultrasound. Diagnosing the underlying cause of foetal megacystis in the antenatal period is often challenging due to the many possible underlying aetiologies, including various obstructive and non-obstructive causes.</p><p><strong>Summary: </strong>The detection of foetal megacystis leads to an extensive diagnostic conundrum. Counselling, prognostication, and prenatal management may prove challenging. Prenatal intervention has been trialled with limited success.</p><p><strong>Key messages: </strong>This review article aims to be a practical guide to assist with the diagnosis, management and counselling for foetal megacystis in each trimester. It summarizes the evidence for each differential diagnosis and how to distinguish between them.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-15"},"PeriodicalIF":1.6,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143491441","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
First-Trimester Universal One-Time Serology Screening for Cytomegalovirus: A Pilot Study at Two Tertiary Referral Centers in Barcelona (Catalunya, Spain).
IF 1.6 3区 医学
Fetal Diagnosis and Therapy Pub Date : 2025-02-18 DOI: 10.1159/000544169
Karen P Castillo, Laura Guirado, Alex Cahuana, María Angeles Marcos, Imma Mercadé, Elena Casals Font, Qiqi Liu, Clara Medina, Marta López, María Dolores Gómez-Roig, Francesc Figueras, Anna Goncé
{"title":"First-Trimester Universal One-Time Serology Screening for Cytomegalovirus: A Pilot Study at Two Tertiary Referral Centers in Barcelona (Catalunya, Spain).","authors":"Karen P Castillo, Laura Guirado, Alex Cahuana, María Angeles Marcos, Imma Mercadé, Elena Casals Font, Qiqi Liu, Clara Medina, Marta López, María Dolores Gómez-Roig, Francesc Figueras, Anna Goncé","doi":"10.1159/000544169","DOIUrl":"10.1159/000544169","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital cytomegalovirus (cCMV) is the main infectious cause of sensorineural hearing loss and neurodevelopmental disability. First-trimester and periconceptional period are the most vulnerable times for fetal injury. Universal serological cytomegalovirus (CMV) screening in pregnant women is not currently recommended. After a recent randomized controlled clinical trial that demonstrated a 70% reduction of vertical transmission with high-dose valacyclovir (VCV), a pilot first-trimester screening program was launched at our setting.</p><p><strong>Methods: </strong>This epidemiological surveillance study was conducted at two tertiary hospitals in Barcelona. The primary outcome was to evaluate the results of the first 2 years of implementation of a universal first-trimester CMV screening program. The secondary outcome was to assess maternal seroprevalence, and the burden of primary infection during the fetal risk period in this population. IgG and IgM antibodies were determined in first-trimester pregnant women at the time of the combined test for aneuploidy. In those with positive IgG and IgM, IgG avidity was performed through a fast alert system. Low or intermediate avidity was considered as primary infection in the first-trimester or periconceptional period, and women were offered VCV up to the time of amniocentesis. Infected fetuses were followed-up according to our clinical protocol.</p><p><strong>Results: </strong>From February 2021 to August 2023, 2,777 first-trimester pregnant women between 8+0 and 13+6 gestational weeks were screened. Maternal IgG seroprevalence was 70.6%. Among these, 22 (0.8%) had IgM antibodies, four with low or intermediate avidity, suggesting a recent primary infection, and they received oral VCV 2 g/6 h. Vertical transmission occurred in one with a delayed start of VCV treatment and the family opted for termination of pregnancy.</p><p><strong>Conclusions: </strong>Universal first-trimester CMV screening is feasible. A high seroprevalence was observed in our population. Larger studies will confirm whether screening is cost-effective in our setting.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-9"},"PeriodicalIF":1.6,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143448707","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Analysis of Ultrasound Findings and Outcomes in Fetuses with Suspected Congenital Heart Disease at Less than 14 Weeks' Gestation Compared to Later Gestations.
IF 1.6 3区 医学
Fetal Diagnosis and Therapy Pub Date : 2025-02-14 DOI: 10.1159/000544033
Wenjia Lei, Jingjing Wang, Jijing Han, Yousheng Yan, Qingqing Wu
{"title":"Analysis of Ultrasound Findings and Outcomes in Fetuses with Suspected Congenital Heart Disease at Less than 14 Weeks' Gestation Compared to Later Gestations.","authors":"Wenjia Lei, Jingjing Wang, Jijing Han, Yousheng Yan, Qingqing Wu","doi":"10.1159/000544033","DOIUrl":"10.1159/000544033","url":null,"abstract":"<p><strong>Introduction: </strong>This study aimed to compare the spectrum of cardiac anomalies, associated comorbidities, and outcomes in fetuses suspected of congenital heart disease (CHD) at less than 14 weeks' gestation with those in the later gestations.</p><p><strong>Methods: </strong>We conducted a 3-year retrospective study involving 352 fetuses suspected of CHD at our institution. The fetuses were divided into two groups based on the gestational age at which the CHD was initially detected. Initial CHD suspicion was noted within 14 weeks, forming group I. The remaining fetuses, initially suspected of CHD after 14 weeks, constituted group II. The type of CHD, ultrasound soft markers (USMs), associated extracardiac structural abnormalities (ECSAs), genetic testing results, and pregnancy outcomes were retrieved.</p><p><strong>Results: </strong>The types of CHD in group I (n = 76) were less varied than those in group II (n = 276). Isolated CHD was significantly more prevalent in group II (odds ratio [OR] = 0.170, 95% confidence interval [CI]: 0.092-0.316, p < 0.001). The frequency of ECSA and USMs was significantly greater in Group I (OR = 1.816, 95% CI: 1.180-2.795, p < 0.01; OR = 4.400, 95% CI: 3.375-5.737, p < 0.001, respectively). Chromosomal abnormalities were more prevalent in group I than in group II (65.0% vs. 16.5%, p < 0.001). There were no significant differences in termination rates between the two groups (OR = 1.099, 95% CI: 1.023-1.179, p = 0.043).</p><p><strong>Conclusion: </strong>The spectrum of diagnosed cardiac abnormalities differs between early and mid stages. Non-isolated cardiac abnormalities and chromosomal anomalies are more readily detectable in the early stages of pregnancy before the formal establishment of early cardiac screening programs. Early suspicion of cardiac anomalies may not be the predominant factor driving the termination decision.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-10"},"PeriodicalIF":1.6,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Late Prenatal Development of Hindbrain Herniation in Open Spina Bifida.
IF 1.6 3区 医学
Fetal Diagnosis and Therapy Pub Date : 2025-02-13 DOI: 10.1159/000543850
Denise Araujo Lapa, Shivani Rangwala, Bassel Zebian, Matthew Brown, Jason Chu, Ramen H Chmait
{"title":"Late Prenatal Development of Hindbrain Herniation in Open Spina Bifida.","authors":"Denise Araujo Lapa, Shivani Rangwala, Bassel Zebian, Matthew Brown, Jason Chu, Ramen H Chmait","doi":"10.1159/000543850","DOIUrl":"10.1159/000543850","url":null,"abstract":"<p><strong>Introduction: </strong>We describe 4 cases of open spina bifida initially presumed to be \"closed\" defects in which serial prenatal ultrasound examinations documented the occurrence of sac rupture and development of Chiari II malformation later in the pregnancy.</p><p><strong>Case presentation: </strong>In each case, the ultrasound examinations starting from 19 to 24 weeks' gestation, showed spinal cystic lesions containing neural elements but no evidence of Chiari II malformation. The lack of hindbrain herniation rendered them ineligible for prenatal surgical repair, but follow-up imaging at 24-32 weeks' gestation demonstrated the cystic lesions to be no longer visible or visible but decompressed, with the additional development of de novo hindbrain herniation.</p><p><strong>Conclusion: </strong>We conclude by recommending serial ultrasound surveillance of presumed closed spina bifida as these may be in fact open defects, with confirmatory diagnosis only possible later in pregnancy. This detection is important because it may change counseling since prenatal repair or planned delivery may be warranted.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-9"},"PeriodicalIF":1.6,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Psychological Impact in Early Pregnancy Loss: The Effects of Disclosing the Causative Chromosomal Anomaly.
IF 1.6 3区 医学
Fetal Diagnosis and Therapy Pub Date : 2025-02-05 DOI: 10.1159/000543684
Maria Borrell, Montse Pauta, Aida Mallorquí, Victoria Ardiles-Ruesjas, Virginia Borobio, Carmen Illanes, Isabel Matas, Antoni Borrell
{"title":"Psychological Impact in Early Pregnancy Loss: The Effects of Disclosing the Causative Chromosomal Anomaly.","authors":"Maria Borrell, Montse Pauta, Aida Mallorquí, Victoria Ardiles-Ruesjas, Virginia Borobio, Carmen Illanes, Isabel Matas, Antoni Borrell","doi":"10.1159/000543684","DOIUrl":"10.1159/000543684","url":null,"abstract":"<p><strong>Introduction: </strong>The study investigated whether the disclosure of the chromosomal anomaly causing early pregnancy loss (EPL) favors the grief process and reduces psychological distress.</p><p><strong>Methods: </strong>Women experiencing EPL were invited to participate in the study at the time they were offered chorionic villi sampling (CVS) and karyotyping before uterine evacuation. They completed two online surveys: one a week after EPL and another a month later, after receiving cytogenetic results. The surveys measured anxiety (Hospital Anxiety and Depression Scale [HADS]), Beck Depression Inventory (BDI-II) cognitive depression factor items, post-traumatic stress disorder (Impact of the Event Scale-Revised [IES-R]), and rumination (Ruminative Responses Scale [RRS-10]). Participants were divided into groups based on the chromosomal anomaly found at CVS: A1 (autosomal trisomy), A2 (other anomalies), and B (no anomalies).</p><p><strong>Results: </strong>A significant score decline was observed in the four studied psychological scales assessing anxiety, depression, post-traumatic stress, and rumination, between the first and second survey. The proportion of women with a clinical score also demonstrated a significant decline, except for anxiety. When these changes were assessed after karyotypic group stratification, the group with other chromosomal anomalies (A2) showed the highest drop. This group also demonstrated a significantly higher depression score decline at multivariate regression analysis of the median.</p><p><strong>Conclusion: </strong>EPL significantly impacts women's mental health, with 19%-51% experiencing manifestations. Disclosing chromosomal anomalies may aid in psychological recovery, particularly in reducing clinical scores for depression.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-11"},"PeriodicalIF":1.6,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143188758","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
First Intrapartum Sonographic Diagnosis of Fetal Hypoxic-Ischemic Encephalopathy.
IF 1.6 3区 医学
Fetal Diagnosis and Therapy Pub Date : 2025-01-28 DOI: 10.1159/000543851
Andrea Dall'Asta, Chiara Melito, Chiara Petrolini, Serafina Perrone, Tullio Ghi
{"title":"First Intrapartum Sonographic Diagnosis of Fetal Hypoxic-Ischemic Encephalopathy.","authors":"Andrea Dall'Asta, Chiara Melito, Chiara Petrolini, Serafina Perrone, Tullio Ghi","doi":"10.1159/000543851","DOIUrl":"10.1159/000543851","url":null,"abstract":"<p><strong>Introduction: </strong>Hypoxic-ischemic encephalopathy (HIE) is a syndrome involving the fetal central nervous system as the result of a perinatal hypoxic-ischemic injury. To date, transfontanellar ultrasound represents the first-line exam in neonates with clinical suspicion of HIE as it allows the showing of features indicating acute hypoxic injury and excludes potential non-hypoxic determinants of HIE; however, there is no report concerning the sonographic assessment of the brain during labor. In this clinical case, we report the intrapartum sonographic evaluation of the fetal brain as a tool for the differential diagnosis of cardiotocographic abnormalities.</p><p><strong>Case presentation: </strong>A 42-year-old para 2 woman underwent labor induction at 37 + 3 weeks due to preeclampsia. On admission, cardiotocography was normal, as was umbilical artery Doppler. De novo changes of the CTG pattern prior to the onset of labor raised the suspicion of a supervening fetal cerebral insult, leading to the decision to expedite delivery by emergency cesarean. During the preparation for delivery, intrapartum ultrasound allowed the demonstration of fetal cerebral edema representing an early sign of superimposed intrapartum acute hypoxic insult in the context of chronic antepartum hypoxia and excluding non-hypoxic conditions of cardiotocographic abnormalities.</p><p><strong>Conclusion: </strong>This is the first intrapartum sonographic demonstration of imaging findings consistent with cerebral edema in a fetus at risk for in utero hypoxia, hence suspected for fetal hypoxic-ischemic encephalopathy. Intrapartum ultrasound can assist clinicians in the differential diagnosis of intrapartum fetal hypoxia as long as it does not delay any interventions required to prevent hypoxic injury.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-5"},"PeriodicalIF":1.6,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058201","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Transplacental Sirolimus for Reversal of Fetal Heart Failure due to Fetal Cardiac Rhabdomyoma: Fetal and Maternal Considerations.
IF 1.6 3区 医学
Fetal Diagnosis and Therapy Pub Date : 2025-01-22 DOI: 10.1159/000542664
Maria Beatriz Siggia Gonçalves, Mariana Azevedo Carvalho, Gustavo Antonio Guimarães Favaro, Juliana Salem Mihich, Juliana Pavan Leite, Aline Franciele Correia de Melo, Fabricio Marcondes Camargo, Diogo Cordeiro de Queiroz Soares, Louise Thomsen Schmidt Arenholt, Peter Christian Leutscher, Lisandra Stein Bernardes
{"title":"Transplacental Sirolimus for Reversal of Fetal Heart Failure due to Fetal Cardiac Rhabdomyoma: Fetal and Maternal Considerations.","authors":"Maria Beatriz Siggia Gonçalves, Mariana Azevedo Carvalho, Gustavo Antonio Guimarães Favaro, Juliana Salem Mihich, Juliana Pavan Leite, Aline Franciele Correia de Melo, Fabricio Marcondes Camargo, Diogo Cordeiro de Queiroz Soares, Louise Thomsen Schmidt Arenholt, Peter Christian Leutscher, Lisandra Stein Bernardes","doi":"10.1159/000542664","DOIUrl":"10.1159/000542664","url":null,"abstract":"<p><strong>Background: </strong>Rhabdomyoma is the most common cardiac tumor in fetal life. It has frequent association with tuberous sclerosis complex and may lead to heart failure, a potentially fatal condition. The use of transplacental sirolimus, a mammalian target of rapamycin inhibitor, has emerged as a novel treatment in symptomatic fetal rhabdomyomas; however, there are only few cases described.</p><p><strong>Case presentation: </strong>A 37-year-old woman at 29 weeks and 4 days of gestation had been diagnosed with fetal cardiac tumor, adhered adjacent to the left ventricle, associated with heart dysfunction and polyhydramnios. Therapy with oral sirolimus was started, and, once serum levels were achieved, cardiac tumor reduction was observed, with progressive resolution of cardiac dysfunction. However, maternal hypertriglyceridemia was developed as a side effect, a rarely discussed theme on previous articles, and was successfully controlled with dose reduction. The patient delivered a male infant at 38 weeks and 2 days of pregnancy with no need of any resuscitation maneuver.</p><p><strong>Conclusion: </strong>Transplacental treatment with sirolimus is a promising therapeutic option to treat symptomatic fetal rhabdomyomas, but more data are demanded to determine its efficacy and safety during pregnancy. A close maternal follow-up concerning triglyceride levels is mandatory.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-9"},"PeriodicalIF":1.6,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143022523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Rare Case of Dichorionic Twins Concordant for Arterial Tortuosity Syndrome: Case Report and Review of the Literature. 罕见的双绒毛膜双胞胎动脉扭曲综合征病例报告及文献复习。
IF 1.6 3区 医学
Fetal Diagnosis and Therapy Pub Date : 2025-01-17 DOI: 10.1159/000543596
Ilaria Ponziani, Carlotta Checcucci, Giulia Masini, Lucia Pasquini
{"title":"A Rare Case of Dichorionic Twins Concordant for Arterial Tortuosity Syndrome: Case Report and Review of the Literature.","authors":"Ilaria Ponziani, Carlotta Checcucci, Giulia Masini, Lucia Pasquini","doi":"10.1159/000543596","DOIUrl":"10.1159/000543596","url":null,"abstract":"<p><strong>Introduction: </strong>Arterial tortuosity syndrome (ATS) is a rare congenital disorder characterized by elongation and tortuosity of the aorta and mid-sized arteries. Additional features typical of connective tissue disorders are usually present, but the clinical presentation of the syndrome can extensively change. The cardiovascular implications are the major source of morbidity and mortality and can be present even during the neonatal period; therefore, a correct neonatal management is extremely important. However, only few cases of ATS have been suspected or diagnosed prenatally.</p><p><strong>Case presentation: </strong>In our study, we present a rare case of dichorionic twins both affected by ATS, in which the syndrome was suspected antenatally. Moreover, we performed a review of the literature and summarized the main findings identified at prenatal ultrasounds and postnatal examination, in order to help clinicians with the management of this rare diagnosis.</p><p><strong>Conclusion: </strong>The most suspicious ultrasound prenatal finding of ATS is the elongation and tortuosity of great arteries. When ATS is suspected prenatally, the newborn should be referred immediately after birth to a high specialized center for proper neonatal care. In case of confirmed ATS, parents should be counseled regarding the recurrence risk in other pregnancies.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-6"},"PeriodicalIF":1.6,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143002653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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