Fetal Diagnosis and Therapy最新文献

{"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":"https://doi.org/10.1159/000543684","url":null,"abstract":"<p><strong>Introduction: </strong>The study investigates 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 (HAD), BDI-II cognitive depression factor items, post-traumatic stress disorder (IES-R), and rumination (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":"1-22"},"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}

{"title":"First intrapartum sonographic diagnosis of fetal hypoxic ischemic encephalopathy (FHIE).","authors":"Andrea Dall'Asta, Chiara Melito, Chiara Petrolini, Serafina Perrone, Tullio Ghi","doi":"10.1159/000543851","DOIUrl":"https://doi.org/10.1159/000543851","url":null,"abstract":"<p><p>Novel Insights In presence of cardiotocographic features suspected for hypoxic insult, intrapartum ultrasound in the hands of experienced operators can demonstrate cerebral edema as an indirect sign of fetal hypoxia affecting the fetal CNS and exclude non-hypoxic conditions potentially leading to abnormalities of the fetal heart rate. Introduction Hypoxic-ischemic encephalopathy 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 to show features indicating acute hypoxic injury and exclude 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. Case Presentation 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 to demonstrate fetal cerebral edema representing an early sign of superimposed intrapartum acute hypoxic insult in the context of chronic antepartum hypoxia and exclude non-hypoxic conditions of cardiotocographic abnormalities. Conclusion 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 (FHIE). 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":"1-11"},"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}

{"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":"https://doi.org/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 mTOR inhibitor, has emerged as a novel treatment in symptomatic fetal rhabdomyomas, there are, though, only few cases described.</p><p><strong>Case presentation: </strong>A 37-years old at 29 weeks and 4 days had diagnosis of 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 is demanded to determine its efficacy and safety during pregnancy. A close maternal follow up concerning triglycerides levels is mandatory.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-18"},"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}

{"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":"https://doi.org/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 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 affect 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":"1-9"},"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}

{"title":"Fetal Extrahepatic Porto systemic 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":"https://doi.org/10.1159/000543529","url":null,"abstract":"<p><p>Introduction Fetal extrahepatic portosystemic Venous Shunt (FEPSVS) are 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. Objective To report our method of prenatal diagnosis, the developing insight regarding prenatal counseling, and postnatal treatment. Method 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. Results 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 six born alive, five had early surgical/endovascular corrections, and one experienced spontaneous closure. All the cases resulted in a successful rescue of the IHPVS with good outcomes. Conclusions 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":"1-16"},"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 IFMSS meeting Visby-Stockholm 2023.","authors":"Carmen Mesas Burgos, Peter Lindgren","doi":"10.1159/000543300","DOIUrl":"https://doi.org/10.1159/000543300","url":null,"abstract":"","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-4"},"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}