Fetal Diagnosis and Therapy最新文献

Background: 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.

Case presentation: 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.

Conclusion: 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.

Introduction: 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.

Case presentation: 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.

Conclusion: 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.

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.

Introduction: 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.

Methods: 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 Jan 1, 2010-Dec 31, 2020.

Results: 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) were not associated with an increased risk of mortality nor developmental delay.

Conclusions: 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.

Objectives: This study aimed to assess the role of olfactory sulci (OS) in diagnosing CHARGE syndrome among fetuses with major congenital heart defects (CHDs).

Methods: We prospectively evaluated OS development in fetuses diagnosed with CHDs from 2017 to 2021. Neurosonography (NSG) 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).

Results: 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.

Conclusions: 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.

Introduction: The management of selective intrauterine demise in monochorionic pregnancies has high rates of adverse outcomes in the surviving co-twin. One of the complications might be severe anemia. The aim of this systematic review was to evaluate the role of intrauterine transfusion in case of selective intrauterine fetal death in monochorionic pregnancies with the surviving co-twin diagnosed with severe anemia.

Methods: We carried out literature search from PubMed, Google Scholar, and Scopus. Cases with ultrasound signs of severe fetal anemia in the surviving co-twin and treated through fetal intrauterine rescue transfusion alone were included.

Results: We selected 7 articles and 45 cases for our review. After an intrauterine transfusion procedure, the percentage of alive and apparently healthy newborns resulted to be 55.5% (25/45), with 15 premature and 10 full-term newborns. Long-term outcomes were not available for the majority of cases.

Conclusion: We provide available evidence on the outcome after the rescue intrauterine transfusion for severe anemia in surviving co-twin in selective intrauterine fetal death in monochorionic pregnancy performed within 24 h from the diagnosis. Our results suggest a better outcome compared to expectant management, where delivery is not indicated due to prematurity. This is a useful information for physicians managing these cases and for parents' counseling.

Introduction: Twin reversed arterial perfusion (TRAP) sequence is a rare complication of monochorionic twin pregnancies characterized by placental anastomoses between a normally developed twin and an acardiac mass. Though several treatment modalities exist, the optimal management strategy is unclear. This study aims to compare the various treatment strategies for TRAP sequence.

Methods: A systematic review of the literature was performed using PRISMA guidelines including PubMed, Scopus, Web of Science and the Cochrane Library. Studies were imported into Covidence, where they were independently screened by two authors. Studies included described interventions for TRAP sequence. Those excluded were unavailable in English and lacked differentiation between intervention strategies for TRAP and other monochorionic twin pregnancies. Fisher's exact test and random effects modeling were used for statistical analysis.

Results: 2340 abstracts were screened, of which 218 articles progressed to full review and 120 qualified for data extraction. 757 twin pregnancies were described. Most were treated with radiofrequency ablation (RFA) (n=363, 47.95%) and laser ablation (n=220, 29.06%). Statistically significant differences amongst the modalities were seen in technical success (p = 0.005), gestational age at presentation (p < 0.01), intervention (p = 0.01), and delivery (p = 0.01), respectively, and time between treatment and delivery (p < 0.01). Notably, pump twin survival did not differ based on treatment modality used (p = 0.196). Overall, complication rates were low with no differences in preterm premature rupture of membranes (PPROM) (p = 0.66), preterm labor (p = 0.58) or maternal hemorrhage between modalities (p = 0.28). Suture cord ligation, however, had a greater hemorrhage rate than RFA (p = 0.03).

Conclusions: This embodies the first meta-analysis comparing treatment modalities for TRAP sequence with outcomes and complications. RFA is the most technically successful strategy. Prospective data is required to further understand the optimal modality and gestational age at treatment to ensure best overall outcomes. .

Introduction: Fetal scalp electrode (FSE) is considered the gold standard for the intrapartum monitoring of the fetal heart rate (FHR) being associated with the lowest rate of signal loss and artifacts including the recording of the maternal heart rate. FSE acquires a fetal electrocardiogram and evaluates the time intervals between successive R waves. As such, it allows the recording of the beat-to-beat fluctuation of the FHR. However, due to the precise estimation of the inter-beat interval, FSE may also demonstrate recurrent atrial ectopic beats and register a highly oscillatory FHR pattern mimicking a saltatory or ZigZag appearance.

Case presentation: We herein describe a case of intrapartum supraventricular ectopic beats leading to the recording of a saltatory appearance of the FHR that could be demonstrated using FSE only and precluded a reliable assessment of intrapartum fetal oxygenation. Transabdominal gray-scale and M-mode ultrasound assessment of the fetal heart documented supraventricular ectopic beats recurring in 1 out of 10-12 beats, thus supporting the hypothesis that the abnormal FHR pattern on the CTG trace was secondary to fetal arrhythmia and not to rapidly evolving fetal hypoxia.

Conclusion: In supraventricular fetal arrhythmia, the use of FSE for continuous intrapartum FHR monitoring differently from external ultrasound transducer may capture a highly variable CTG pattern which is caused by the registration of the ectopic atrial beats and not by a rapidly evolving hypoxia.

Introduction: Neonates with congenital diaphragmatic hernia (CDH) who undergo repair while on extracorporeal membrane oxygenation (ECMO) are at risk of developing post-operative bleeding complications. Balanced anticoagulation is critical to maintain ECMO flow and avoid bleeding. Heparin has historically been our first-line anticoagulant; however, recently, we transitioned to bivalirudin, a direct thrombin inhibitor. The objective of this pilot study was to compare post-operative surgical bleeding complications between the two groups.

Methods: We performed a single center retrospective cohort study of patients who underwent CDH repair while on ECMO between 2008 and 2023. Neonates were stratified based on the type of anticoagulant initiated after CDH repair. Outcomes included bleeding requiring surgical re-operation, intracranial hemorrhage, volume of blood products transfused, number of circuit changes, days on ECMO, and overall survival.

Results: Among 62 neonates with CDH who underwent repair on ECMO, 44 (71%) were managed post-CDH repair with heparin and 18 (29%) with bivalirudin. One (5.6%) neonate managed with bivalirudin underwent re-operation following CDH repair for a bleeding complication compared to 17 (38.6%) managed with heparin (p = 0.022). In addition, the bivalirudin cohort utilized half of the total blood product volume compared to the heparin cohort (p = 0.020). Despite these benefits, there were no significant differences between groups for incidence of intracranial hemorrhage, number of circuit changes, days on ECMO, and overall survival.

Conclusion: Anticoagulation with bivalirudin in neonates who underwent CDH repair while on ECMO was associated with decreased surgical bleeding complications and less total blood product transfused. This pilot analysis is the first to compare heparin to bivalirudin and stresses the importance of a multicenter study.