Fetal Diagnosis and Therapy最新文献

{"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":"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":"346-355"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","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}

{"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":"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":"388-396"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12324760/pdf/","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":"OA","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":"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":"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":"Sequence of Events Leading to Medical Abortion for Fetal Indications after 34 Weeks' Gestation: 23 Years of Experience in a Single Medical Center.","authors":"Marina Pekar Zlotin, Yael Nehama Berman, Yaacovone Melcer, Howard Cuckle, Ron Maymon","doi":"10.1159/000540674","DOIUrl":"10.1159/000540674","url":null,"abstract":"<p><strong>Introduction: </strong>Technical advances are rapidly improving the ability to detect anatomical malformations and genetic abnormalities during pregnancy. We aimed to identify the sequence of events leading to medical abortion ≥34 weeks' gestation, to determine whether the procedure could have been carried out earlier.</p><p><strong>Method: </strong>Retrospective study of medical abortions in singleton pregnancies carried out in our department over a 23-year period from 1998 to 2021.</p><p><strong>Results: </strong>36/4,055 (0.88%) abortions were carried out ≥34 weeks' gestation. The indications were anatomical in 20 (55%), chromosomal or genetic in 14 (39%) and CMV infection in two. Evaluation of the sequence of events suggests that an earlier diagnosis would have been unfeasible before the third trimester in 18 cases (50%) because the disorder was developmental and ultrasound findings would not have presented earlier. By contrast, certain other cases might have been diagnosed earlier if the patient had not delayed routine screening or if screening had been administered on schedule.</p><p><strong>Conclusion: </strong>In this series, full adherence to local screening tests and protocols, and timely decision-making could have substantially reduced the late abortion rate by as much as half.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"262-270"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142575598","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":"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":"371-376"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","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}

{"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}