Fetal Diagnosis and Therapy最新文献

Introduction: While machine learning models successfully predict preeclampsia in singleton pregnancies and aspirin prophylaxis prevents preterm preeclampsia, no parallel models exist for twin pregnancies. This study developed machine learning algorithms to predict preeclampsia in twins using maternal factors and biomarkers from all three trimesters.

Methods: We prospectively enrolled 596 pregnant women with twin pregnancies at 11+0 to 13+6 weeks' gestation. Machine learning models assessed the efficacy of maternal factors and biomarkers for preeclampsia prediction across all trimesters. Screening performance was evaluated using area under the receiver operating characteristic (ROC) curves. Women with first-trimester risk >1/100 received aspirin treatment (150-160 mg/day) based on Fetal Medicine Foundation (FMF) twin-specific algorithms, while others received 80-100 mg/day or no treatment according to local guidelines.

Results: Sixty-seven women (11.2%) developed preeclampsia, including 40 (6.7%) with preterm preeclampsia. Key first-trimester markers included maternal factors, mean arterial pressure, cell-free fetal DNA, placental growth factor, and blood group B. Second- and third-trimester predictors comprised placental growth factor, soluble fms-like tyrosine kinase-1, and mean arterial pressure. The optimal machine learning model incorporating all three trimesters achieved an area under the ROC curve of 0.97 with 91% detection rate at 10% false-positive rate.

Conclusion: Despite aspirin treatment in 257 (43.1%) women, logistic regression showed no significant reduction in preeclampsia rates. These findings suggest that while multi-trimester biomarkers effectively predict preeclampsia in twins, the effect of aspirin prophylaxis in twin pregnancies has yet to be proven. An app to predict this score is available at: twin-pe.math.biu.ac.il or by contact with the corresponding author.

Introduction: Prevention of preeclampsia has short- and long-term benefits for maternal health. Recent data suggest that combined screening at 35-37 weeks of gestation with anamnestic risk factors, mean arterial pressure (MAP), uterine artery pulsatility index (UtA-PI), and angiogenic profile (sFlt-1/PlGF) detects up to 80% of all tPE. The aim of this retrospective analysis was to test the performance of third-trimester screening for tPE in a single center in Switzerland.

Methods: Singleton pregnancies with complete background risk assessments, MAP, and, if available, UtA-PI and sFlt-1/PlGF from 2018 to 2023 were included and risks were calculated on the FMF London website.

Results: 1,121 pregnancies, including 22 (2.0%) with tPE, were analyzed. Median MAP-MoM [IQR] in tPE was 1.08 [1.00-1.14], compared to 0.98 [0.92-1.04] in controls (p < 0.0001). Median UtA-PI-MoM [IQR] in tPE was 1.04 [0.85-1.27] versus 0.99 [0.82-1.15] (p = 0.56). No sFlt-1/PlGF recordings in tPE were available for analysis. The detection rate in combined screening was 15/22 (68.2%) compared to screening by anamnestic risk factors only of 9/22 (40.9%).

Conclusion: This analysis shows that combined screening at 35-37 weeks of gestation including anamnestic risk factors and MAP performs better than screening by anamnestic risk factors alone. These results should further be verified in a prospective trial including all markers.

Introduction: Intertwin membrane cord insertion (IMCI) is a rare variation of velamentous cord insertion (VCI) that can be seen in dichorionic twin pregnancies. This condition exposes fetal vessels to risks such as compression and rupture, which can lead to complications including fetal growth restriction (FGR) and preterm delivery.

Case presentation: A 30-year-old woman, gravida 1 para 0, was referred at 19+5 weeks for evaluation of a dichorionic diamniotic twin pregnancy due to an abdominal cyst in twin A, transposition of the great arteries in twin B, and suspected abnormal cord insertions. Ultrasound evaluation confirmed IMCI, with both umbilical cords inserting into the intertwin membrane before reaching the placenta. MRI corroborated the findings. Doppler studies remained normal until 34+2 weeks, when signs of severe FGR and abnormal umbilical artery Dopplers prompted delivery by cesarean section. The twins were delivered preterm, and postnatal evaluation confirmed VCI.

Conclusion: This case highlights the importance of early identification of IMCI as it necessitates close monitoring and timely intervention to optimize perinatal outcomes.

Introduction: The aim of this study was to investigate clinical significance, rate of genetic anomalies, and fetal malformations in fetuses with dilated jugular lymphatic sacs (JLS) in the first trimester, overall and according to nuchal translucency (NT) thickness.

Methods: This is a retrospective multicenter cohort study of fetuses with dilated JLS at the first-trimester scan. NT thickness, genetic evaluation, and fetal malformation data were collected. Logistic regression analysis was performed to evaluate impact of NT measurement on adverse outcomes.

Results: Eighty-four fetuses were included. Dilated JLS was associated with an increased NT in 75 (89.3%) fetuses; fetal structural malformations in 38 (45.2%); and genetic anomalies in 49 (64.5%). NT measurement remains the strongest predictor of genetic or structural abnormalities (OR 1.567, 95% confidence interval: 1.226-2.124; p = 0.001). Significantly fewer live births observed in the group with NT >99th percentile (p < 0.001). Among cases with isolated JLS, a normal postnatal outcome was reported in 6 (66.7%).

Conclusion: The first-trimester dilated JLS are highly associated with genetic disorders and/or fetal malformations, but an increased NT remains the most important predictive factor. In cases with normal NT, dilated JLS is mostly a transient finding but approximately one-third of cases are at increased risk of adverse outcomes.

Introduction: The aim of this study was to evaluate the outcomes with lung changes of fetoscopic endoluminal tracheal occlusion (FETO) for congenital diaphragmatic hernia (CDH).

Methods: Between 2014 and 2023, we performed FETO for severe or moderate left-sided CDH with the Kitano grade 3 stomach position. We analyzed the pre- and postoperative ultrasound findings, pregnancy outcomes, and survival rates at 6 months.

Results: Twenty-five patients were analyzed. The median gestational age at balloon insertion was 29.1 (range: 27.1-31.8) weeks. The median gestational age at delivery was 35.7 (range: 30.7-38.7) weeks. Pulmonary hypertension was observed in 71% (15/21) of the cases. The 6-month survival rate was 40% (10/25). The post-FETO observed-to-expected lung area-to-head circumference ratio (o/e LHR) and differences between pre- and post-FETO values were significantly higher in survivors than in infants who died (p < 0.01 and p < 0.01, respectively), but pre-FETO values were not. The post-FETO cutoff value associated with the 6-month survival was 33.8%, and that of the difference between pre- and post-FETO o/e LHR was 7.8% (area under the curve = 0.91 and 0.86, respectively).

Conclusions: FETO can lead to an increased o/e LHR in some but not all CDH fetuses, reflecting fetal lung growth, and be associated with a survival when it exceeds the threshold.

Introduction: The presence of an abnormal vertebral pattern and (rudimentary) cervical ribs in particular has been associated with adverse fetal and neonatal outcomes, such as intrauterine fetal death and structural or chromosomal abnormalities. The feasibility and potential added value of prenatal assessment of the vertebral pattern and the presence of cervical ribs are currently unclear. Aims of this study were to evaluate the feasibility of prenatal assessment of the fetal vertebral pattern and cervical ribs using three-dimensional ultrasound and determine whether an abnormal vertebral pattern is associated with adverse fetal and neonatal outcome.

Methods: A total of 1,138 women referred for an advanced ultrasound examination were included, and volume data sets of the spine were acquired. The vertebral pattern was reassessed on postnatal radiographic examinations, when available. Associations between adverse outcomes and abnormalities of the vertebral pattern that had at least a good agreement between prenatal and postnatal assessments were studied.

Results: Agreement between prenatal and postnatal assessment of the presence of cervical ribs was poor, which also applied to assessment of the complete vertebral pattern. Moderate to fair agreement existed between prenatal and postnatal assessments of thoracic rib number. Prenatal and postnatal assessments of lumbar ribs had a very good agreement. Lumbar ribs were rare (10/768, 1.3%) and associated with female gender, but not with any other variable.

Conclusion: Lumbar ribs could be assessed very well on prenatal three-dimensional ultrasound and were not associated with adverse outcomes. Prenatal and postnatal agreement between the presence of cervical ribs, number of thoracic ribs, and the vertebral pattern was insufficient.

Introduction: This study aimed to identify a cutoff value for the soluble fms-like tyrosine kinase-1 (sFlt-1)/placental growth factor (PlGF) ratio to predict adverse outcomes in early-onset fetal growth restriction (FGR).

Methods: In this single-center, non-blinded, retrospective cohort study, maternal serum sFlt-1/PlGF ratios were measured at the time of early-onset FGR diagnosis (<34 weeks) using Roche Elecsys® assays. The optimal cutoff for predicting severe adverse outcomes within 2 weeks was determined using receiver operating characteristic analysis. The Kaplan-Meier analysis assessed delivery probability, and Cox proportional hazards models evaluated factors associated with pregnancy continuation.

Results: Among 332 patients, 61 (18.4%) delivered within 2 weeks due to worsening FGR. An sFlt-1/PlGF ratio ≥99.0 predicted adverse outcomes leading to an inability to continue the pregnancy, with 85.3% sensitivity and 91.5% specificity (area under the curve: 0.92). Women with ratios ≥99.0 had a significantly shorter time to delivery (p < 0.001). The ratio remained a significant predictor of adverse outcomes in both asymptomatic and preeclampsia-complicated FGR.

Conclusion: The sFlt-1/PlGF ratio is a strong predictor of short-term adverse outcomes in early-onset FGR, aiding in risk stratification and clinical decision-making.

Introduction: This study quantified the concordance of pre- and postnatal imaging and pathology diagnoses of fetal lung lesions.

Methods: This is a retrospective review of patients seen at a single fetal center from 2014 to 2024.

Results: A total of 138 patients with prenatally diagnosed lung lesions were identified. Patients with an associated congenital diaphragmatic hernia (n = 7) and patients with neither postnatal imaging nor surgical pathology (n = 11) were excluded. Overall, 86.7% had postnatal imaging; of these, 79.8% had postnatal CT findings consistent with prenatal imaging. Overall, 68.3% had surgical resection at our institution. The remaining patients had surgery elsewhere or did not pursue resection of the lesion. Of those 82 patients, 90.2% had a pathologic diagnosis concordant with their prenatal MRI and 97.1% had a pathologic diagnosis concordant with postnatal CT. The most common case of discordance between pre- and postnatal imaging was bronchial atresia (71.4%, 15/21), which was originally called a CPAM/BPS/hybrid lesion on prenatal imaging. The most striking case of discordance between imaging and pathology was a pleuropulmonary blastoma initially called a CPAM on prenatal MRI.

Conclusion: Congenital lung lesions may evolve during pregnancy, highlighting the value of postnatal imaging to further characterize the lesions and assess the appropriateness of patients for surgical resection.

Introduction: Pericardial teratomas are rare tumors located in the pericardial space compressing the heart from the outside and usually associated with pericardial effusions. When these tumors are diagnosed in utero, there are some management challenges, including the best approach of prenatal follow-up, the ideal timing of delivery, and the perinatal therapeutic strategies. The tumors, although benign, tend to grow considerably prenatally, imposing increased risk of worsening pericardial effusion, compression of the heart, and potentially compromising cardiac output, leading to intrauterine death.

Case presentation: We are presenting an extremely large pericardial teratoma diagnosed at 20 weeks' gestation that was followed serially and closely by fetal echocardiogram and ultrasound throughout the gestation. The baby was successfully delivered by ex utero intrapartum treatment (EXIT)-to-resection procedure because of sudden progression to fetal hydrops associated with maternal mirror syndrome. On placental-fetal circulation, the pericardial teratoma was completely resected, allowing for successful maternal-fetal outcome.

Conclusion: Serial fetal echocardiogram is a key prenatal tool to evaluate fetal cardiac function in intrapericardial teratomas. EXIT procedure with intrapartum resection of large pericardial teratoma is a safe perinatal strategic option to improve the outcomes of those babies.

Introduction: Since preconceptional folic acid (FA) supplementation is known to reduce the risk of fetal spina bifida (fSB), the aim of this study was to systematically analyze the FA supplementation in a cohort of women with fSB repair in affected and subsequent pregnancies.

Methods: A total of 198 women, that underwent open fSB repair between 2010 and 2023, were compared in two groups (group 1 = correct FA and group 2 = incorrect FA preconceptionally) regarding maternal and fetal characteristics. Additionally, compliance to high dose FA supplementation in subsequent pregnancies was analyzed.

Results: Sixty-five women (32.8%) had correct preconceptional FA supplementation (group 1), and 63 women (31.8%) had incorrect FA supplementation (group 2). The two groups did not significantly differ regarding maternal and fetal characteristics. Thirty-nine women had 48 subsequent pregnancies. FA was initiated prior to conception in 35 (72.9%) of these pregnancies, in 9 (18.7%) cases, FA supplementation was incorrect.

Conclusion: This study focuses on better awareness of FA supplementation as correct FA supplementation was low in women with fSB and suboptimal in high-risk situations after fSB pregnancies. However, these results also show that 1/2 of fSB occurs despite correct FA intake; thus, further research is needed to better understand the complex, multifactorial causes of this debilitating condition.