Fetal Diagnosis and Therapy最新文献

{"title":"Fetal Extrahepatic Portosystemic Venous Shunts: Prenatal Diagnosis Management and Therapy - 21 Years of Evolving Insights.","authors":"Reuven Achiron, Zvi Kivilevitch, Eran Kassif, Riccardo A Superina","doi":"10.1159/000543529","DOIUrl":"10.1159/000543529","url":null,"abstract":"<p><strong>Introduction: </strong>Fetal extrahepatic portosystemic venous shunt (FEPSVS) is vascular malformations that divert placental and bowel blood from the liver into the systemic circulation. When uncorrected, it can lead to severe pathologic consequences after birth. In this study, we aim to report our method of prenatal diagnosis, the developing insight regarding prenatal counseling, and postnatal treatment.</p><p><strong>Methods: </strong>Retrospective review of fetuses diagnosed with FEPSVS, classified into Abernethy type I or II based on the absence or existence of intrahepatic portal venous system (IHPVS) flow. Two different counseling periods were compared regarding pregnancy management and postnatal outcome.</p><p><strong>Results: </strong>In the first period (2000-2010), 5 cases were diagnosed; 4 were type I with an 80% termination rate. In the second period (2011-2021), 6 cases were diagnosed; with only a 16% termination rate in type I cases. Two type II cases were reclassified to type I postnatally and corrected successfully. Of the 6 born alive, 5 had early surgical/endovascular corrections, and 1 experienced spontaneous closure. All the cases resulted in a successful rescue of the IHPVS with good outcomes.</p><p><strong>Conclusion: </strong>During our developing insights we realized that: (1) the adult classification according to the IHPSVS is not relevant for prenatal prognostic counseling; (2) prenatal diagnosis of FEPSVS is essential in promoting early postnatal investigation and corrective intervention, which might prevent the appearance of postnatal complications.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-9"},"PeriodicalIF":1.6,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143002747","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}

{"title":"Reflections on the 40th International Fetal Medicine and Surgery Society Meeting Visby-Stockholm 2023.","authors":"Carmen Mesas Burgos, Peter Lindgren","doi":"10.1159/000543300","DOIUrl":"10.1159/000543300","url":null,"abstract":"","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1"},"PeriodicalIF":1.6,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143002688","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}

{"title":"Medical and Early Developmental Outcomes for Patients with Congenital Ventriculomegaly.","authors":"Anna Coronel, Karin S Bierbrauer, Hua He, Leandra Kay Tolusso, Jose L Peiro","doi":"10.1159/000542269","DOIUrl":"10.1159/000542269","url":null,"abstract":"<p><strong>Introduction: </strong>This study evaluated whether comorbidities such as genetic conditions, other congenital anomalies, infection, and other exposures impact the mortality rate and/or neurologic outcomes of patients with congenital ventriculomegaly.</p><p><strong>Methods: </strong>This was a retrospective cohort study that assessed the mortality rate and developmental delay of 91 patients diagnosed with congenital ventriculomegaly followed at Cincinnati Children's Hospital Medical Center between January 1, 2010, and December 31, 2020.</p><p><strong>Results: </strong>Of the 91 patients included in the study, 20 (22.0%) had a genetic diagnosis. The mortality rate was higher for patients with a genetic diagnosis compared to those without a genetic diagnosis (p = 0.022), as was the rate of developmental delay (p = 0.026). The presence of comorbidities (confirmed genetic condition, confirmed maternal exposures or infections, and/or additional anomalies) was not associated with an increased risk of mortality nor developmental delay.</p><p><strong>Conclusions: </strong>Patients diagnosed with congenital ventriculomegaly and a genetic condition have a significantly higher risk of early mortality and developmental delay compared to those without a genetic diagnosis. Therefore, diagnostic genetic testing should be considered after identification of congenital ventriculomegaly to facilitate counseling about prognosis and care management.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-9"},"PeriodicalIF":1.6,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143002685","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}

{"title":"Systematic Ultrasound Evaluation of Olfactory Sulci in Fetuses with Congenital Heart Defects: A Clue for CHARGE Syndrome Diagnosis.","authors":"Ron Charach, Míriam Pérez-Cruz, Narcis Masoller, Míriam Illa, Elena Monterde, Josep Maria Martínez-Crespo, Antoni Borrell, Marta Gómez-Chiari, Mónica Rebollo-Polo, Mar Borregan, Olga Gómez, Elisenda Eixarch","doi":"10.1159/000543190","DOIUrl":"10.1159/000543190","url":null,"abstract":"<p><strong>Introduction: </strong>Arhinencephaly have been identified as a significant feature in CHARGE syndrome. This study aimed to evaluate the diagnostic role of olfactory sulci (OS) in identifying CHARGE syndrome among fetuses with major congenital heart defects (CHDs).</p><p><strong>Methods: </strong>We prospectively evaluated OS development in fetuses diagnosed with CHDs from 2017 to 2021. Neurosonography was performed using transabdominal and transvaginal approaches after 30 weeks of gestation. OS assessment was conducted in the trans-frontal coronal plane, classifying their appearance as fully developed, hypoplastic, or absent. Abnormal OS cases underwent MRI and trio-based clinical exome sequencing (CES).</p><p><strong>Results: </strong>The study included 147 fetuses with CHD. Abnormal OS were found in 4 fetuses (2.7%) which also exhibited other additional anomalies. OS were absent in cases 1-3 and hypoplastic in case 4. MRI confirmed OS abnormalities in all cases, and trio-based CES identified a CHD7 gene mutation in cases 1, 2, and 4, supporting the diagnosis of CHARGE syndrome. Case 3 had normal trio-based CES results. No other CHARGE syndrome cases were diagnosed postnatally among the cases with normal OS.</p><p><strong>Conclusions: </strong>Systematic evaluation of OS in fetuses with major CHD might contribute to the diagnosis of CHARGE syndrome. Our findings support the inclusion of OS assessment in the prenatal evaluation of fetuses with major CHDs.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-11"},"PeriodicalIF":1.6,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142983227","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}

{"title":"Fetal Hypoplastic Left Heart Syndrome with Intact Atrial Septum: From Successful in utero Stenting to Subtotal Stent Occlusion - A Case Report.","authors":"Andreas Tulzer, Iris Scharnreitner, Eva Sames-Dolzer, Michaela Kreuzer, Rudolf Mair, Gerald Tulzer","doi":"10.1159/000542069","DOIUrl":"10.1159/000542069","url":null,"abstract":"<p><strong>Introduction: </strong>Fetuses with hypoplastic left heart syndrome (HLHS) and intact atrial septum (IAS) have an overall poor prognosis and a high risk of neonatal death due to severe secondary lung damage. Intrauterine stenting of the atrial septum was introduced in these patients to enable survival.</p><p><strong>Case presentation: </strong>We present a case of a HLHS fetus with IAS and signs of incipient nutmeg lung, in whom at 30 weeks gestation an atrial stent was successfully placed but continuously developed subtotal stent-obstruction over the next weeks.</p><p><strong>Conclusion: </strong>Continuous obstruction of placed atrial septum stents until delivery is possible and requires close monitoring of successfully treated fetuses.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"97-104"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142461401","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}

{"title":"Prenatal Neurosurgical Counseling for Myelomeningocele and Treatment-Determining Factors for Fetal Repair.","authors":"Belinda Shao, Christian Schroeder, Emilija Sagaityte, Olivia A Kozel, Morgan Pedus, Debra Watson-Smith, Julie Monteagudo, Francois I Luks, Stephen R Carr, Petra M Klinge, Konstantina A Svokos","doi":"10.1159/000540237","DOIUrl":"10.1159/000540237","url":null,"abstract":"<p><strong>Introduction: </strong>Spina bifida guidelines recommend neurosurgical involvement in prenatal counseling to inform decision-making between prenatal and postnatal myelomeningocele (MMC) repair. This study examines whether families with MMC presenting to one fetal center had timely neurosurgical prenatal counseling (nPNC) encounters and assesses modifiable and non-modifiable treatment-determining factors.</p><p><strong>Methods: </strong>History and timing of nPNC were quantified among infants undergoing postnatal and prenatal MMC repair, pregnant patients referred, and MMC studies in a fetal MRI database (2015-2023). Fetal repair exclusions, presentation timing, social determinants, and reported rationale for not selecting offered fetal therapy were assessed.</p><p><strong>Results: </strong>Nearly all patients (34/35; 97%) engaged in nPNC, 82% prior to 24 weeks GA. Fourteen patients were excluded from fetal repair for lack of hindbrain herniation (43%), obstetric exclusions (21%), fetal exclusions (21%), suspected closed defect (7%), and delayed presentation (7%). These patients ultimately underwent postnatal repair (71%), and pregnancy termination (14%). The 20 fetal-repair-eligible patients selected fetal repair (50%), postnatal repair (45%), and pregnancy termination (5%). Reasons for declining fetal repair included risk (55%) and cost (22%).</p><p><strong>Conclusions: </strong>Among MMC families presenting to a regional fetal therapy center, nPNC was widely extended, in a mostly timely fashion. Very few were deterred from fetal repair by potentially modifiable barriers.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"37-45"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141874556","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}

{"title":"The Role of Chorionicity in Placenta-Related Disorders.","authors":"Yana Brudner, Arwa Issa, Hila Sharabi, Livna Shafat, Boaz Weisz, Alon Shrim","doi":"10.1159/000541457","DOIUrl":"10.1159/000541457","url":null,"abstract":"<p><strong>Introduction: </strong>Twin pregnancy is associated with higher rates of maternal morbidities including gestational diabetes and hypertension. Dichorionic twins are believed to have greater placental mass. Our objective was to study the incidence of two placenta-related disorders: gestational diabetes and hypertension, in dichorionic versus monochorionic twin pregnancies.</p><p><strong>Methods: </strong>Patients' data of all consecutive twin pregnancies over a period of 12 years were collected from medical records. Data on chorionicity were retrieved from 1st trimester ultrasound reports. Maternal complications including gestational hypertension and diabetes were collected, and incidence was compared between dichorionic and monochorionic twin pregnancies. Records lacking chorionicity data and cases with pregestational diabetes were excluded.</p><p><strong>Results: </strong>A total of 960 twin pregnancies, 121 monochorionic and 839 dichorionic, were included. Average maternal age did not differ significantly between the groups. The median gestational age at delivery was 36.0 weeks in monochorionic and 36.7 in dichorionic twins. Primiparity (40.4% vs. 23.1%, p < 0.001) and the rate of infertility treatments (51.5% vs. 7.4%, p < 0.001) were both more common in the dichorionic group. The incidence of gestational hypertension disorders was 14% in monochorionic versus 11% in dichorionic twins (p = 0.36). Gestational diabetes was more common in dichorionic compared to monochorionic twins (9.4% and 2.5%, respectively); however, logistic multivariate analysis showed that gestational diabetes was highly correlated with maternal age (p < 0.001) and infertility treatments (p < 0.001) but not with chorionicity (p = 0.136).</p><p><strong>Conclusion: </strong>Our results may imply that greater placental mass does not increase the risk for gestational hypertension and diabetes. This might support the role of additional multiple maternal factors associated with these complications.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"24-29"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307416","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}

{"title":"Perinatal Outcomes of Pregnancies with Borderline Oligohydramnios at Term.","authors":"Inshirah Sgayer, Mohamed Elafawi, Olga Braude, Sarah Abramov, Lior Lowenstein, Marwan Odeh","doi":"10.1159/000541008","DOIUrl":"10.1159/000541008","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;Limited evidence exists on borderline oligohydramnios. Our objective was to determine perinatal outcomes in uncomplicated term pregnancies with borderline oligohydramnios.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;This retrospective analysis compared adverse perinatal outcomes among pregnancies during 2018-2022, between those with borderline oligohydramnios defined as amniotic fluid index (AFI) of 5.1-8.0 cm, those with oligohydramnios (AFI ≤5 cm), and those with normal AFI (8.1-25 cm). The latter matched one-to-one to the borderline oligohydramnios group and served as the control group. The outcomes compared included birthweight, cesarean delivery due to fetal distress, the presence of meconium-stained amniotic fluid, Apgar scores, neonatal intensive care unit admission, and the occurrence of small-for-gestational-age (SGA) neonates.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;During the study period, 140 women had borderline oligohydramnios and 345 had oligohydramnios; the control group included 140 women. Borderline oligohydramnios was associated with increased rates of delivering SGA neonates (adjusted odds ratio [aOR] = 3.6, 95% confidence interval [CI] 1.1-11.6, p = 0.034) and cesarean delivery due to fetal distress (aOR = 3.0, 95% CI 1.1-8.3, p = 0.032). Rates of composite neonatal outcome (including at least one of the following: cesarean delivery due to fetal distress, meconium-stained amniotic fluid, 5-min Apgar score &lt;7, umbilical artery pH &lt;7.15, or neonatal intensive care unit admission) were higher in both the borderline oligohydramnios (20.7%) and oligohydramnios (18.6%) groups compared to the control group (9.3%) (p = 0.019).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;Pregnancies with borderline oligohydramnios were associated with increased risks of delivering SGA neonates and requiring cesarean delivery due to fetal distress. These findings support considering closer antepartum surveillance for these pregnancies, especially for identifying abnormal fetal growth.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;Limited evidence exists on borderline oligohydramnios. Our objective was to determine perinatal outcomes in uncomplicated term pregnancies with borderline oligohydramnios.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;This retrospective analysis compared adverse perinatal outcomes among pregnancies during 2018-2022, between those with borderline oligohydramnios defined as amniotic fluid index (AFI) of 5.1-8.0 cm, those with oligohydramnios (AFI ≤5 cm), and those with normal AFI (8.1-25 cm). The latter matched one-to-one to the borderline oligohydramnios group and served as the control group. The outcomes compared included birthweight, cesarean delivery due to fetal distress, the presence of meconium-stained amniotic fluid, Apgar scores, neonatal intensive care unit admission, and the occurrence of small-for-gestational-age (SGA) neonates.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;During the study period, 140 women had borderline oligohydramnios and 345 ","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"59-64"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11793092/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142035564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increased Intrauterine Transfusion Blood Volume Needed to Correct Fetal Anemia due to Placental Chorioangioma.","authors":"Catherine Hamzeh, Jessica Green, Grace Hamadeh, Lisa M Korst, Ramen H Chmait","doi":"10.1159/000541560","DOIUrl":"10.1159/000541560","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;To compare the blood volume transfused for fetal anemia in cases of placental chorioangioma versus red blood cell (RBC) alloimmunization in patients matched for gestational age (GA) and hydrops.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;Study patients had intrauterine transfusions and were obtained from 3 sources: group (1) placental chorioangioma patients treated at our center (2016-2023); group (2) placental chorioangioma patients reported in the medical literature; and group (3) RBC alloimmunization patients treated for fetal anemia at our center (2016-2023) matched (2:1) to patients in groups 1 and 2 by GA at procedure and presence of hydrops. The expected volume (cc) of transfusion was calculated for all patients based on a formula commonly used for fetal anemia in cases of RBC alloimmunization that includes the GA at procedure, pre-transfusion hemoglobin, donor hemoglobin, and target hemoglobin. The ratio of the volume actually transfused to the expected volume was calculated for each group and for groups 1 and 2 combined; comparisons were made using nonparametric testing.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;By group, the patients studied included: (1) 7 treated chorioangioma patients, (2) 8 chorioangioma patients described in the literature, and (3) 30 matched RBC alloimmunization patients. The median (range) GA at procedure for groups 1, 2, and 3 was 29.6 (22.7-32.7), 27.0 (24.0-30.0), 28.4 (22.7-34.3) weeks. The median pre-procedure hemoglobin for each group was 8.5 (5.8-12.5), 6.7 (5.6-12.0), and 5.3 (2.2-10.7) g/dL, and the median post-procedure hemoglobin for each group was 12.9 (11.5-14.0), 12.7 (9.6-14.7), and 13.6 (8.0-15.7) g/dL. The median (range) ratio of the actual to the expected volume transfused for each group was 2.50 (1.79-8.33), 1.64 (1.11-3.85), and 1.10 (0.69-1.86) (p &lt; 0.001). When groups 1 and 2 were combined, the median ratio was 1.89 (1.11-8.33), which remained statistically significant when compared to group 3 (p &lt; 0.001).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;Intrauterine transfusion for fetal anemia in cases of large placental chorioangiomas appeared to require nearly twice the blood volume that was normally anticipated for cases of RBC alloimmunization, although the actual amount transfused varied widely.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;To compare the blood volume transfused for fetal anemia in cases of placental chorioangioma versus red blood cell (RBC) alloimmunization in patients matched for gestational age (GA) and hydrops.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;Study patients had intrauterine transfusions and were obtained from 3 sources: group (1) placental chorioangioma patients treated at our center (2016-2023); group (2) placental chorioangioma patients reported in the medical literature; and group (3) RBC alloimmunization patients treated for fetal anemia at our center (2016-2023) matched (2:1) to patients in groups 1 and 2 by GA at procedure and presence of hydrops. The expected volume ","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"90-96"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11793085/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142282695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Double Outlet Left Ventricle with Intact Ventricular Septum: A Rare Prenatally Diagnosed Case Report.","authors":"Jyoti Gur, Michael P Collins, Frank Smith, Lauren Tague","doi":"10.1159/000541164","DOIUrl":"10.1159/000541164","url":null,"abstract":"<p><strong>Introduction: </strong>Double outlet left ventricle (DOLV) is a rare congenital heart anomaly, and cases of DOLV with an intact ventricular septum are uncommon. To date, only four such cases have been reported in the medical literature.</p><p><strong>Case presentation: </strong>This report presents a case of prenatally diagnosed DOLV. A fetal echocardiogram at 21 weeks of gestation demonstrated both great arteries, aorta and pulmonary artery, arising from the left ventricle with severely dysplastic tricuspid valve and severe hypoplasia of the right ventricle. Subsequent echocardiograms demonstrated no ventricular septal defect. The patient required balloon atrial septostomy in the first week of life, underwent pulmonary artery banding at 5 weeks of life, and is currently status post-bidirectional Glenn, and is awaiting final Fontan palliation.</p><p><strong>Conclusion: </strong>Prenatal diagnosis aided in predicting and guiding postnatal management.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"19-23"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142344302","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}