Fetal Diagnosis and Therapy最新文献

Introduction: Hypoxic-ischemic encephalopathy (HIE) 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 the showing of features indicating acute hypoxic injury and excludes 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 the demonstration of fetal cerebral edema representing an early sign of superimposed intrapartum acute hypoxic insult in the context of chronic antepartum hypoxia and excluding 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. 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.

Introduction: Twin-twin transfusion syndrome (TTTS) is a rare occurrence in monochorionic monoamniotic (MCMA) multiple gestations. Clinical management remains challenging due to increased technical difficulty of selective laser photocoagulation of communicating vessels and limited data regarding outcomes after laser surgery. Our objective was to present the outcomes of MCMA multiple gestations with TTTS who underwent laser surgery.

Methods: Retrospective study of all MCMA multiple gestations between 2006 and 2024 across two institutions treated with laser surgery for TTTS. Results are presented as median (range).

Results: Out of 1,078 laser surgeries for TTTS, 6 (0.6%) were performed in MCMA gestations: 5 MCMA twins and 1 dichorionic diamniotic triplet. The gestational age (GA) at diagnosis was 19.5 (16.9-22.3) weeks. Quintero stage was II (n = 3) and III (n = 3). The placental cord insertion sites were proximal (<4 cm apart) in 2 (33%) cases. Despite increased technical difficulty, laser surgery was successfully completed in all cases. One case required more than 1 trocar entry to adequately evaluate the complex vascular equator. The GA at delivery was 27.2 (23.6-31.7) weeks. Indications for delivery included placental abruption (n = 2; 33%), fetal growth restriction (n = 2; 33%), chorioamnionitis (n = 1; 17%), and elective (n = 1; 17%). Dual 30-day survivorship occurred in 5 (83%) patients and dual demise occurred in 1 (17%) patient.

Conclusion: Laser surgery for TTTS in MCMA multiple gestations is technically feasible. However, outcomes are guarded compared to monochorionic diamniotic twins. Additional studies are needed to investigate the optimal management of TTTS in monoamniotic multiple gestations.

Introduction: Limited data exist regarding the effect of pre-operative risk factors on fetal survival for patients undergoing fetoscopic laser photocoagulation (FLP) for twin-twin transfusion syndrome (TTTS). The primary objective of this study was to determine the pre-operative variables predictive of single and dual fetal survival at birth for subjects treated with laser for TTTS. The secondary objective was to determine the combined effect of multiple risk factors on single and dual fetal survival at birth.

Methods: This was a prospective cohort study of TTTS pregnancies treated with FLP between 2001 and 2023. Cases were identified through the Monochorionic Twin Pregnancy Registry of the North American Fetal Therapy Network. Several pre-operative risk factors were evaluated, including maternal body mass index, gestational age at laser, fetal growth restriction (FGR), cervical length, placental location, and TTTS stage. Higher order multiples, fetal anomalies, karyotypic abnormalities, and cases with missing data were excluded. Risk factors influencing survival were assessed with uni- and multi-variate regression analyses. The predicted probability of single/dual survival based on these risk factors was assessed with multiple logistic regression analysis.

Results: Of 2,728 FLP cases, 1,066 met inclusion criteria. Dual survival is reduced in stage 3 and 4 disease compared to stage 1 and 2 (OR 0.75: 0.58, 0.98; p = 0.032) with the lowest survival in all stages occurring with FGR. An anterior placenta (aOR 0.58: 0.37, 0.91; p = 0.017) and FGR <10th percentile (aOR 0.57: 0.35, 0.92; p = 0.02) were independent predictors of reduced survival. With regression modeling, sequential addition of any pre-operative risk factor progressively reduces survival of at least one or both twins.

Conclusions: In this large registry, anterior placental location and FGR were most predictive of reduced survival for both twins. As the number of pre-operative risk factors increases for a given TTTS case, there is a progressive reduction in survival probability and these reported probability rates may be useful in counseling patients.

Introduction: 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.

Methods: 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 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.

Conclusion: 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: The optimal protocol for serial amnioinfusions to maintain amniotic fluid in pregnancies with early-onset fetal renal anhydramnios before 22 weeks is not known. We compared the performance of two different approaches.

Methods: A secondary analysis was conducted of serial amnioinfusions performed by a single center during the external pilot and feasibility phases of the Renal Anhydramnios Fetal Therapy (RAFT) trial. During the external pilot, higher amnioinfusion volumes were given less frequently; in the feasibility study, smaller volume amnioinfusions were administered more frequently. Procedural details, complications, and obstetric outcomes were compared between the two groups using Pearson's χ2 or Fisher's exact tests for categorical variables and Student's t tests or Wilcoxon rank-sum tests for continuous variables. The adjusted association between procedural details and chorioamniotic separation was obtained through a multivariate repeated measure logistic regression model.

Results: Eleven participants underwent 159 amnioinfusions (external pilot: 3 patients, 21 amnioinfusions; feasibility: 8 patients, 138 amnioinfusions). External pilot participants had fewer amnioinfusions (7 vs. 19.5 in the feasibility group, p = 0.04), larger amnioinfusion volume (750 vs. 500 mL, p < 0.01), and longer interval between amnioinfusions (6 [4-7] vs. 4 [3-5] days, p < 0.01). In the external pilot, chorioamniotic separation was more common (28.6% vs. 5.8%, p < 0.01), preterm prelabor rupture of membranes (PPROM) occurred sooner after amnioinfusion initiation (28 ± 21.5 vs. 75.6 ± 24.1 days, p = 0.03), and duration of maintained amniotic fluid between first and last amnioinfusion was shorter (38 ± 17.3 vs. 71 ± 19 days, p = 0.03), compared to the feasibility group. While delivery gestational age was similar (35.1 ± 1.7 vs. 33.8 ± 1.5 weeks, p = 0.21), feasibility participants maintained amniotic fluid longer.

Conclusion: Small volume serial amnioinfusions performed more frequently maintain normal amniotic fluid volume longer because of delayed occurrence of PPROM.

Introduction: Assessment of myocardial function in fetuses with supraventricular tachyarrhythmia is challenging. Speckle-tracking echocardiography (STE) is a newer sensitive method to assess ventricular systolic function. We sought to assess left (LV) and right (RV) ventricular myocardial strain mechanics in fetuses with tachyarrhythmia and hypothesized that strain mechanics are impaired in this patient population even after conversion to sinus rhythm.

Methods: This was a single-center retrospective review. LV and RV strain parameters were assessed using STE in tachyarrhythmia and after conversion to sinus rhythm and, compared to gestational age (GA), matched control fetuses in sinus rhythm.

Results: Eighteen fetuses with tachyarrhythmia and 18 controls were analyzed at median GA of 31 weeks (range 28-34 weeks). LV Global Longitudinal Strain (GLS) (-4.5% [-5.2, -1.9] vs. -11.2% [-14.6, -9.9]; p value 0.0001), Strain Rate (-0.8% [-1.5, -0.6] vs. -1.7% [-2.5, -1.2]; p value 0.007), and Global Longitudinal Velocity (GLV) (0.7 cm/s [0.5, 1.3] vs. 1.8 cm/s [0.9, 2.1]; p value 0.003) were reduced in tachyarrhythmia and improved with sinus rhythm but remained abnormal compared to controls. RV GLS (-6.3% [-8.5, -5.1] vs. -13.6% [-15.3, -10.6]; p value <0.0001), Strain rate (-1.3% [-1.7, -0.9] vs. -2.1% [-2.5, -1.4]; p value 0.0103), and GLV (1.2 cm/s [0.8, 1.7] vs. 1.9 cm/s [1.2, 2.7]; p value 0.026) were low in tachyarrhythmia and improved with sinus rhythm but remained lower than in controls. Regional strain was decreased in all LV and RV segments in tachyarrhythmia.

Conclusion: Fetuses in tachyarrhythmia had reduced measures of myocardial deformation that improved with sinus rhythm but remained low compared to matched controls. Future studies are needed to explore the utility of STE for serial monitoring of fetuses in tachyarrhythmia and to assess response to therapy.

Introduction: The TOTAL trial showed survival benefit in patients with severe congenital diaphragmatic hernia (CDH) who underwent fetoscopic endoluminal tracheal occlusion (FETO). We aim to add to the current literature by describing implementation, feasibility, and outcomes of patients treated with FETO compared to a contemporary cohort of expectantly managed maternal-child dyads.

Methods: A single-center, retrospective cohort study evaluated patients with a prenatal diagnosis of isolated left-CDH with an observed/expected lung-to-head ratio (O/E LHR) <30% referred to our center from September 2016 to January 2023.

Results: Twelve patients who underwent FETO were compared to 35 expectantly managed patients. At initial evaluation, FETO patients had a lower O/E LHR value (21.7% versus 24.9%) compared to the expectant management patients. Chorioamniotic membrane separation occurred in half of the FETO patients (6/12) compared with 1 patient in the expectant management group and most FETO patients (75.0%) experienced preterm prelabor rupture of membranes compared to only 4 (11.4%) expectant management patients. FETO patients had a lower median gestational age at delivery compared to expectant management patients (35.0 vs. 38.9 weeks). Fewer FETO patients were treated with extracorporeal-membrane oxygenation (ECMO; 25.0% vs. 60.0% expectant management). FETO patients also had higher survival (91.7% vs. 71.4%) and longer duration of hospitalization (135 vs. 94.8 days). At time of discharge, no FETO patients required pulmonary hypertension (PH) medications while 28.0% of expectant management patients were on PH medications.

Conclusion: FETO for severe CDH was feasible in our single center setting. FETO may increase risk of obstetric complications and prematurity, but improved ECMO use, PH, and survival of infants with severe CDH.

Introduction: Some of the central nervous system malformations (CNSs) can be detected or suspected during the first trimester.

Methods: Prospective observational study including singleton pregnancies, CRL between 60 and 82 mm and normal basic ultrasound examination. In the axial plane, we examined: lateral ventricles (LV), choroid plexus of LV (PCVL), PCVL/VL ratio, insula, cerebellum, distance from Sylvian aqueduct to occipital bone, IV ventricle (IVV), and cisterna magna (CM) and in the sagittal plane, we assessed: 4 lines-3 spaces, brain stem (BS), fourth ventricle, IVV choroid plexus (PC), CM, distance from BS to occipital bone (BSOB) and BS/BSOB ratio.

Results: Ninety-two fetuses were included. The extended examination was successfully performed in 86 (93.5%) cases. The insula, LV and CPLV (axial planes) as well as all structures in the sagittal planes were assessed at 100%. The IVV, PC and CM (axial planes) were visualized at 90 (97.8%) fetuses. In 89 (96.7%) fetuses, the cerebellum was successfully evaluated, while in 88 (95.7%) cases, the tectum, aqueduct of Sylvius, and Ac-Oc distance were measured. Good intra- and interobserver concordance was observed for all parameters, as confirmed by Bland-Altman analyses. Advanced ultrasound increased the total examination time by 3 min compared to basic examination.

Conclusions: Advanced first-trimester CNS assessment, including the incorporation of early markers to predict CNS abnormalities, is feasible with good intra- and interobserver agreement and minimal additional ultrasound scanning time.

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 aimed 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: A total of 2,340 abstracts were screened, of which 218 articles progressed to full review and 120 qualified for data extraction. Overall, 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 among 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 (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 are 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.