Fetal Diagnosis and Therapy最新文献

Objective: To evaluate the feasibility of slice-to-volume registration (SVR) of the fetal thorax in congenital diaphragmatic hernia (CDH), and to compare observed-to-expected total fetal lung volume (O/E TFLV) obtained from original and SVR MRI volumes for prediction of postnatal survival.

Methods: We retrospectively analyzed 35 fetuses with CDH undergoing MRI before and after fetoscopic endoluminal tracheal occlusion (FETO). High-resolution, motion-corrected SVR volumes were reconstructed using an automated pipeline. O/E TFLV was measured on both original and SVR volumes, and results were compared between survivors and non-survivors at 6 months of age. Agreement, correlation, and predictive accuracy were assessed using Pearson correlation and ROC analysis.

Results: Four cases (11.4%) were excluded due to uncorrectable artifacts or technical issues. SVR reconstruction required only three acquisitions versus a median of six for conventional imaging. Post-processing took a median of 14 minutes, and lung delineation was longer for SVR than for original volumes. O/E TFLV measurements showed good to very good agreement between original and SVR volumes (r=0.75 before and r=0.96 after FETO), with comparable predictive accuracy for survival (AUCoriginal=0.81-0.83 vs AUCSVR=0.83, p>0.7).

Conclusion: SVR of the fetal thorax is feasible in CDH and provides reliable O/E TFLV measurements with prognostic accuracy comparable to conventional MRI, while reducing the need for repeated acquisitions.

Intrapartum point-of-care ultrasound (POCUS) is increasingly employed to assess fetal head position and labor progression. We describe a case in which intrapartum POCUS enabled the early detection of a compound cord presentation, preventing umbilical cord prolapse. A 33-year-old primigravida at 39+4 weeks in active labor showed a persistent right occiput posterior position with slow progress despite adequate contractions. After a failed manual rotation attempt transperineal ultrasound revealed a hypoechoic tubular structure lying between the fetal head and pubic symphysis, consistent with the umbilical cord. These sonographic findings suggested a compound cord presentation. An urgent Caesarean Section was performed, and a healthy male neonate weighing 3,700 g was delivered with Apgar scores of 9 and 10 and normal cord gases. Maternal recovery was uneventful. This case highlights the potential of intrapartum POCUS to identify rare, life-threatening conditions such as compound cord presentation, improving decision-making and preventing fetal hypoxia.

Background: The mediastinal shift angle (MSA) estimates the lateral displacement of the heart in the fetal thorax.

Objective: To evaluate the MSA's performance in predicting neonatal mortality in fetuses with left isolated congenital diaphragmatic hernia (CDH) as an isolated marker, and in combination with other ultrasound and MRI predictors.

Study design: MSA was obtained by ultrasound in a cross-sectional four-chamber view of the thorax in 96 fetuses with left isolated CDH. MSA was calculated by drawing two lines from a common point from the skin edge posterior to the spinous process of the thoracic vertebrae, the first line dividing the thorax into two halves, and the second line directed to the lateral border of the right atrium. Additionally, the observed/expected (O/E) lung-to-head ratio LHR, O/E total fetal lung volume (TFLV), and percentage of liver herniation (%LH) were obtained. ROC analysis, prediction, and associations with neonatal mortality were evaluated.

Results: Neonatal mortality was 28.1% (27/96). The areas under (AU) the ROC curve for neonatal mortality for MSA and O/E LHR were 0.69 and 0.75, respectively. The best MSA cut-off value was 35° with 85.2% sensitivity and 67.1% specificity; aOR 11.75 (95% CI 3.63-37.97; p<0.0001). Among fetuses with O/E LHR >25% (n=75), mortality was 16% (12/75), MSA ≥35° showed an AU-ROC of 0.72 with 83.3% sensitivity and 71.4% specificity, aOR 12.5 (95% CI 2.49-62.76; p=0.002). Logistic regression showed a significant correlation between MSA and O/E LHR (-0.48, p<0.001), between MSA and O/E TFLV (-0.36, p=0.005), and between MSA and %LH (0.43, p=0.001). When MSA and O/E LHR were combined, the AU-ROC for neonatal mortality was 0.832; when MSA, O/E LHR, and O/E TFLV were combined, the AU-ROC was 0.901. Conclusion MSA is a good predictor of neonatal mortality in fetuses with left isolated CDH. The prediction improves when MSA, O/E LHR and O/E TFLV are combined.

Introduction: Maternal seroma has been noted following open maternal fetal surgery (OMFS) for fetal neural tube defect (fNTD) closure but the risk factors, timing of diagnosis, natural course and clinical significance have not been reported.

Methods: Retrospective review of 340 patients who underwent OMFS for fNTD. Postoperative ultrasound images were reviewed and seroma details were recorded. Perioperative characteristics and delivery outcomes were then compared in patients that did or did not develop a seroma after OMFS. Multivariable logistic regression was performed to identify risk factors for seroma.

Results: Of 330 patients with ongoing pregnancies at least 10 days after OMFS,122 patients (37%) had sonographic evidence of seroma on postoperative imaging. Median postoperative day at diagnosis was 11 with median time to resolution of 21 days. Median longest diameter at diagnosis was 5.23 cm with an initial volume of 9.66 mL. Seromas minimally increased in size prior to resolution. Multivariable logistic regression identified increasing maternal age and BMI as significant risk factors for seroma (OR 1.08 and 1.17). There was no difference in the incidence of post-OMFS complications in those who did and did not develop seroma, including no difference in the rate of membrane separation, oligohydramnios, preterm premature rupture of membranes, placental abruption, preterm labor, gestational age at delivery, fetal demise, or hysterotomy dehiscence. Following cesarean delivery, there was no difference in wound infection, but there was a higher incidence of wound separation in the group that had a seroma (7.4% vs 1.9%, p=0.019).

Conclusion: In this cohort, one-third of patients undergoing OMFS developed seroma with no associated change in wound healing or prenatal course. Risk factors included older maternal age and increased BMI. Most were small and resolved, without intervention, prior to delivery. Following cesarean, there was an increased rate of wound separation in patients who previously developed seroma.

Introduction: The last 40 years have seen an increase in fetal diagnosis and therapy centers and the emergence of professional societies such as IFMSS, NAFTNet, iFetus, Eurofetus, and ISPD. Despite the progress and cross-collaboration, it is still unclear what resources are needed for the creation of new fetal diagnosis and treatment centers (FDTCs). Our study aimed to ascertain the key resources essential for effective FDTC implementation.

Methods: A cross-sectional study using a questionnaire was distributed to providers at North American FDTCs. The questionnaire ranked the importance of providers, facilities, interventions, and resources. Data analysis used descriptive statistics and series cross-tabulations for significance.

Results: Overall, 40.2% completed the questionnaire. Maternal-fetal medicine (MFM) specialists and pediatric surgeons (92%) predominated. Most centers were >10 years old. Critical resources included MFM providers, a dedicated nurse coordinator, high-resolution US capabilities, needle-based interventions, and patient access to an FDTC close to their home. Although specialty-based differences were not significant between newer and long-established centers, centers older than 10 years ranked additional surgical specialties and a mandatory reporting system as more important.

Conclusion: Our findings offer valuable insights into the perspectives of fetal therapy providers, informing the strategic allocation of resources for establishing new FDTCs.

Objective: Pseudoamniotic band sequence (PABS) is a rare but serious complication following fetoscopic laser photocoagulation (FLP) for twin-twin transfusion syndrome (TTTS). We aim to explore associations between perioperative factors and PABS in monochorionic, diamniotic twins undergoing FLP for TTTS.

Methods: A secondary analysis was conducted using a prospective cohort of 816 FLP procedures performed between 2011 and 2024 at a single fetal therapy center. All cases had confirmed absence of PABS prior to FLP via ultrasound and fetoscopic evaluation. PABS was diagnosed postnatally or suspected after FLP and confirmed after birth. Clinical and perioperative variables were compared between cases with and without PABS using appropriate two-sample tests, with statistical significance set at p<0.01 to minimize type I error in a smaller cohort.

Results: PABS occurred in 11 cases (1.3%), with only 3 (27.3%) identified prenatally and treated with in utero band lysis. Digital amputation occurred in 3 undiagnosed cases. There were no differences in maternal characteristics between groups. Estimated fetal weight discordance (p=0.003), GA at FLP (p=0.0004), and chorion-amnion separation (CAS, p<0.0001) differed significantly between cases with and without PABS.

Conclusions: Observed associations with perioperative factors, particularly with CAS, may inform detailed post-FLP evaluation for PABS. Early detection of PABS may facilitate prenatal intervention and reduce adverse neonatal outcomes.

Objective: To analyze the evolution, indications and outcomes of cephalocentesis over a 38-year period at two tertiary fetal medicine centers.

Methods: Retrospective review of 70 cephalocentesis procedures (1985-2023) at Mount Sinai Hospital, Toronto and the National Maternity Hospital, Dublin. Cases were divided into pre-2002 (n=37) and 2002-onwards (n=33) cohorts in order to evaluate practice evolution.

Results: Mean gestational age at diagnosis was 32.7 ± 5.4 weeks with severe hydrocephalus in 95.7% (67/70) and hydranencephaly in 4.3% (3/70) of cases. Pre-2002, 94.6% (35/37) of procedures were performed intrapartum; 2002-onwards, this shifted to 66.7% (22/33) pre-labor planned procedures with 84.8% (28/33) using a transabdominal approach. Concurrent fetal analgesia and potassium chloride to achieve fetal asystole was introduced in 2002. Vaginal delivery was achieved in 95.7% (67/70) of cases. Perinatal mortality (excluding KCl cases) was 91.8% (45/49). All four survivors (5.8%) demonstrated neurodevelopmental impairment.

Conclusion: Cephalocentesis has evolved from an intrapartum intervention to a planned procedure with standardized protocols. Our findings support reserving this procedure for cases where there is no expectation of postnatal survival, with the primary purpose of facilitating vaginal delivery when caesarean section could unnecessarily increase maternal morbidity.

Introduction: To evaluate the diagnostic yield of prenatal imaging for fetal liver lesions and to characterize associated postnatal outcomes.

Methods: We conducted a single-center retrospective review of prenatally diagnosed liver lesions between 2013 and 2023. Data collected included prenatal imaging findings, postnatal diagnoses, neonatal outcomes, and management strategies.

Results: Thirty women were referred at a median gestational age of 31.1 weeks [IQR: 27.5-33.4]. Lesions were classified as cystic (53%), solid (20%), mixed (17%), or vascular (10%). Postnatal diagnoses included hemangioma (33%), hepatic cyst (27%), choledochal cyst (10%), arteriovenous malformation or portosystemic shunt (13%), mesenchymal hamartoma (7%), biliary atresia (3%), focal nodular hyperplasia (3%), and unknown (6%). Overall diagnostic concordance between prenatal and postnatal findings was 69%. Fetal complications occurred in 40% of cases, most commonly cardiac overload (n=8), intrauterine growth restriction (n=3), and mass effect (n=2). Hypervascularized lesions were significantly associated with fetal compromise (p<0.001). No cases of intrauterine fetal demise were observed. Fetal MRI was performed in 70% of cases and improved diagnostic accuracy in two cases. Median gestational age at delivery was 38.0 weeks [IQR: 36.6-39.1]. Postnatal management included expectant observation (67%), surgery (20%), beta-blockers (7%), and embolization (3%). After a median follow-up of 32.5 months [IQR: 14.8-60.9], 38% of lesions had regressed spontaneously. One infant died from complications following embolization.

Conclusion: Most fetal liver lesions are associated with favorable outcomes. However, hypervascularized lesions are predictive of in utero complications and warrant close monitoring. Fetal MRI may improve diagnostic accuracy and guide post-natal management.

Introduction: Fetal growth restriction (FGR) affects cardiac function and increases the risk of cardiac pathologies. We describe the relationship between cardiac contractility and cardiac size and shape in FGR and small-for-gestational age (SGA) fetuses to determine if ultrasound measurements can indicate functional cardiac sequelae.

Methods: This prospective cohort study included fetuses with gestational ages of 23.0-39.0 weeks (FGR: n=55, SGA: n=40, appropriate for gestational age/AGA: n= 22). FGR was defined as fetuses with EFW <10th centile and abnormal arterial doppler studies; SGA was defined as fetuses with EFW <10th centile with normal doppler studies. Two-dimensional cardiac video clips of the 4-chamber view (4CV) were obtained for all fetuses and measurements of its size and shape were made. Speckle tracing measures of contractility were obtained as previously described. Individual size, shape, and speckle tracing measurements were compared by ANOVA between FGR, SGA, and appropriate for gestational age (AGA) groups. Comparisons by Mann Whitney U were used to compare a combined FGR+SGA group with the AGA group for all measurements. Abnormality was determined by simple count of values >95th centile or <5th centile based on predicted effect of FGR/SGA on each measurement. Frequency was binary, with a fetus assigned a 1 if they had any abnormal measurement, and 0 if not. Severity was determined by summing the abnormal measurements. Frequency and severity were determined independently for contractility versus size and shape and compared across groups using chi-squared and ANOVA respectively.

Introduction Spontaneous twin anemia-polycythemia sequence complicates about 3-5% of monochorionic pregnancies. This complication is associated with severe neurological morbidity and mortality in some cases. Prenatal diagnosis relies on Doppler assessment of the middle cerebral artery peak systolic velocity. However, there is ongoing debate regarding the appropriate gestational age to initiate surveillance. Case report We present a case of stage III twin anemia-polycythemia sequence, first identified at 16 weeks of gestation, given discordant middle cerebral artery peak systolic velocity (1.8 and 0.7 MoM in the anemic and polycythemic twin, respectively. Delta MCA PSV MoM 1.1), starry sky liver appearance, discordance in echogenicity and thickness of placental territories and intermittently absent end-diastolic flow in the umbilical artery of the polycythemic twin, successfully managed with fetoscopic laser photocoagulation at 17 weeks of gestation. A cesarean delivery was performed at 31 weeks of gestation by the referring team due to concomitant fetal growth restriction with lack of interval growth, abnormal umbilical artery Dopplers, and non-reassuring fetal status. Pathology confirmed ablation of all anastomotic vessels. The hemoglobin count was within normal limits for both babies (15.9 and 14.9 g/dL), and they were deemed stable for discharge at corrected gestational ages of 37 and 38 weeks, respectively. Conclusion Middle cerebral artery peak systolic velocity Doppler surveillance starting at 16 weeks of gestation is important for early detection and timely intervention of monochorionic pregnancies complicated by early severe spontaneous twin anemia-polycythemia sequence.