Fetal Diagnosis and Therapy最新文献

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.

Introduction: Surface rendering of diagnostic imaging data can reveal hidden conditions with an almost life-like realism. However, early gestation images alone are often insufficient to accurately predict postnatal anatomy. Yet, time-sensitive decisions may have to be made before detailed imaging becomes possible. In this case series, we evaluate how combining medical illustration with cross-sectional diagnostic imaging can enhance the accuracy and clinical value of early visualization of conjoined twins.

Methods: Early gestation magnetic resonance imaging scans underwent semiautomated computerized post hoc manipulation to allow the medical illustrator to create the most effective images of the twins.

Results: Four sets of conjoined twins were diagnosed before 17 weeks. Surface modeling allowed spatial manipulation of the twins to highlight their anatomic connections. Further volumetric enhancement and critical interpretation of the models assisted the illustrator in creating life-like, accurate images of the twins. These illustrations allowed parents to visualize the likely presentation at birth and helped the multidisciplinary team to plan postnatal management.

Conclusion: Surface rendering and surface modeling can be combined with medical illustration to create realistic, informative images of developing fetuses, using a level of detail that is tailored to the intended audience. This may be particularly useful in visualizing complex anomalies like conjoined twins.

Introduction: Twin pregnancies are associated with an increased risk of perinatal morbidity and mortality. Pregnancy complications related to twins, such as fetal growth restriction, and twin-to-twin transfusion syndrome (TTTS), are associated with hemodynamic changes in the fetal heart. Two-dimensional speckle tracking echocardiography (2D STE) is a tool to evaluate fetal cardiac function. This paper aims to review the literature regarding global longitudinal strain (rate) and peak systolic strain (rate) assessed with 2D STE in twin pregnancies. Feasibility, frame rate, and angle of the fetal heart at the time of measurement were selected as secondary outcomes.

Methods: The databases Medline, Embase, Scopus, and Web of Science were searched.

Results: Seven articles met the inclusion criteria and selected all monochorionic diamniotic (MCDA) twins with TTTS as the study population. The global longitudinal strain in the right and left ventricle and the peak systolic strain in the right ventricle of the recipient MCDA twin are significantly decreased compared to the donor MCDA twin. 2D STE assessment was shown feasible and reproducible in MCDA pregnancies. Large heterogeneity in technical characteristics between the articles induces inconsistent results.

Conclusion: Although feasible, the knowledge of 2D STE is very limited in twin pregnancy. Prospective studies are needed to evaluate the 2D STE assessment in uncomplicated twin pregnancies considering its possible additive value in the diagnostics of pregnancy-related pathologies.

Introduction: This study aimed to describe the prevalence and risk factors for respiratory complications in monochorionic twins with twin anaemia polycythaemia sequence (TAPS).

Methods: All neonates diagnosed with postnatal TAPS at our center between 2002 and 2023 were included in this retrospective study. The primary outcome was the prevalence of respiratory complications, including respiratory distress syndrome (RDS), bronchopulmonary dysplasia (BPD), and persistent pulmonary hypertension of the newborn (PPHN). Secondary outcomes included need of respiratory support during admission and a risk factor analysis for adverse respiratory outcome.

Results: In our study of 100 postnatally diagnosed TAPS pregnancies, 32% (62/199) experienced RDS and 13% (25/199) had BPD, with no difference between donors and recipients. PPHN occurred in 7% of cases, more frequently in donors (11%, 11/100) than in recipients (3%, 3/100) (OR = 1.3, 95% CI: 0.2-2.6). Lower gestational age at birth and severe foetal anaemia were found to be significant independent risk factors associated with PPHN in TAPS twins (OR = 0.3, 95% CI: 0.1-0.5), respectively (OR = 1.9, 95% CI: 0.8-3.1).

Conclusion: TAPS donor twins have a fourfold increased risk of PPHN due to anaemia compared to recipient twins. Given the life-threatening nature of PPHN, TAPS twins should be born in hospitals equipped to treat it.

Introduction: Twin reversed arterial perfusion (TRAP) sequence is a rare condition complicating monozygotic multiple gestations. Prenatal management via umbilical cord occlusion (UCO) of the anomalous twin has been shown to improve pump twin survival. We compared outcomes of gestations with high-risk TRAP sequence treated with mid-trimester UCO using laser photocoagulation versus radiofrequency ablation (RFA).

Methods: This is a retrospective, single-center, cohort study of all patients with high-risk TRAP sequence who underwent UCO from 2006-2023. High-risk criteria were defined as follows: larger abdominal circumference of the anomalous twin, polyhydramnios, critically abnormal Doppler waveforms in the pump twin, hydrops in the pump twin, and/or monoamniotic twins. The primary outcome was 30-day survival of the pump twin.

Results: The 74 patients were divided equally between the laser and RFA groups. For the 2 groups, mean gestational age (GA) at UCO (20.5 ± 2.3 vs. 20.7 ± 3.1 weeks, p = 0.987) and mean GA at delivery (35.2 ± 4.6 vs. 34.5 ± 5.7 weeks, p = 0.812) were similar. The 30-day neonatal survival rate did not differ (91.9% [34/37] vs. 89.2% [33/37], OR: 1.37 [0.29-6.61], p = 0.692).

Conclusion: No difference in 30-day neonatal survival was identified in patients with high-risk TRAP sequence who underwent mid-trimester UCO by laser versus RFA.

Introduction: The objective of this study was to assess the relationship between longitudinal changes in the uterine Doppler velocimetry and the maternal profile of angiogenic factors in the third trimester and to assess their ability to predict term preeclampsia (PE).

Methods: A cohort of low-risk pregnant women was scheduled for a uterine Doppler evaluation and measurement of the circulating levels of angiogenic factors at ∼30 and ∼36 weeks. The performance of both parameters and their change over time in predicting term PE was evaluated.

Results: A total of 1,191 women were analyzed, of which 28 (2.4%) women developed term PE. At ∼30 weeks, a model including the sFlt-1/PlGF (fms-like tyrosine kinase-1/placental growth factor) ratio and the uterine Doppler explained 16.2% of the uncertainty of developing term PE, while at ∼36 weeks, the same variables explained 25.2% [p < 0.001]. The longitudinal changes of both predictors had an R2 of 26.8%, which was not different from that of the ∼36 weeks evaluation [p = 0.45]. The area under the curve (AUC) of the ∼36 weeks ratio was significantly higher than at ∼30 weeks (0.86 [0.77-0.94] vs. 0.81 [0.73-0.9]; p = 0.043). The AUC of the longitudinal change of the ratio (0.85 [0.77-0.94]) did not differ from that of at ∼36 weeks (p = 0.82). At ∼36 weeks, for a 10% of false positives, the ratio had a detection rate of 71.4%.

Conclusion: A cross-sectional measurement of the sFlt-1/PlGF ratio outperforms uterine Doppler in predicting term PE. The combination of both markers does not improve such prediction, nor the evaluation of the longitudinal changes between weeks.

Introduction: 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.

Method: Retrospective study of medical abortions in singleton pregnancies carried out in our department over a 23-year period from 1998 to 2021.

Results: 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.

Conclusion: 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.

Introduction: Chromosomal microarray analysis (CMA) can identify clinically significant microdeletions and microduplications, providing valuable insights into the genetic basis of various disorders. Our study was to evaluate clinical management and prognosis of fetuses with prenatal variants of unknown significance (VOUS) and determine diagnostic approaches for subsequent pregnancies.

Methods: This study included 2,953 fetuses undergoing CMA at the Prenatal Diagnostic Center of Changzhou Maternal and Child Health Care Hospital from January 2018 to December 2022, identifying 162 cases with VOUS. Parent-of-origin testing determined the origin of copy number variations. Prenatal genetic counseling was provided, and outcomes were followed for 3-36 months post-birth.

Results: All 162 VOUS cases received prenatal genetic counseling. Among these, 123 continued the pregnancy; 22 chose termination, and 17 were lost to follow-up. Of the continuations, 116 delivered at term and 7 preterm. Post-birth follow-up showed 5/123 live-born fetuses developed relevant clinical phenotypes. Parent-of-origin testing in 21 cases identified 18 hereditary and 3 de novo variants. Additionally, five subsequent pregnancies were monitored, with two undergoing amniocentesis and three receiving low-risk noninvasive prenatal testing, all with positive outcomes.

Conclusion: VOUS, occurring in approximately 5% of cases, require comprehensive prenatal genetic counseling and show generally favorable outcomes. Despite low association with adverse clinical phenotypes, the importance of postnatal follow-up and regular report updates is emphasized to detect potential clinical associations early.

Introduction: 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.

Case presentation: 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.

Conclusion: Continuous obstruction of placed atrial septum stents until delivery is possible and requires close monitoring of successfully treated fetuses.

Introduction: Prenatally diagnosed large fetal neck mass requires multidisciplinary consultation and evaluation of perinatal treatment options. The decision to perform ex utero intrapartum treatment (EXIT) is based on risk-benefit assessment for both the infant and mother. Though fetal ultrasound and MRI assist with operative planning, a three-dimensional anatomic model offers improved anatomic visualization and prenatal patient counseling.

Case presentation: Multiple surveillance ultrasound exams between gestational weeks 16 and 32 plus fetal MRI at 29/3 weeks were performed for fetal evaluation. A 3-dimensional model was printed (Form 3 and 3L, clear resin, Formlabs) incorporating fetal MRI (Ax SSFSE TE 100 DL and Cor SSFSE Brain DL) and using Mimics Medical and 3-matic Medical software (Materialise). A left fetal multicystic neck mass measuring 2.1 × 1.8 × 1.5 cm was diagnosed at 16/6 weeks gestation in a G8P2416. Fetal MRI performed at 29/3 weeks showed a large exophytic mixed solid-cystic cervicofacial mass, 10.3 × 9.4 × 10.6 cm arising from the left mandible, concerning for a teratoma. Prior to delivery, the model was used to educate and counsel the family regarding the complex clinical situation and the reasoning for delivery via EXIT followed by mass resection. Additionally, the model demonstrated tracheal narrowing and oropharyngeal compression, supporting airway intervention planning. The fetus was delivered at 32/3 weeks via EXIT to intubation using rigid bronchoscopy. Duration of time on placental support was 12 min. On day of life 5, the patient underwent resection of the cervical mass. Pathology revealed an immature teratoma, histologic grade 3 without yolk sac elements, and negative regional lymph nodes.

Conclusion: Three-dimensional fetal modeling facilitates perinatal airway needs assessment, patient counseling, delivery, and postnatal management.