Fetal Diagnosis and Therapy最新文献

Introduction: Fetoscopy is a minimally invasive technique widely used for the treatment of twin-to-twin transfusion syndrome (TTTS), offering significant perinatal benefits. However, maternal complications of fetoscopy are underreported and incompletely characterized.

Case presentation: We present the case of a 19-year-old primigravida with a monochorionic diamniotic pregnancy, diagnosed with Quintero stage II TTTS at 18 weeks of gestation, managed with fetoscopy and laser ablation. The clinical course remained stable until 30+3 weeks, 12 weeks after the fetoscopic procedure, when fetal demise of the donor twin and preterm labor were documented, prompting cesarean delivery. During surgery, a 5-mm myometrial defect was identified in the anterior-left lateral uterine wall, with herniation of ovular membranes through the defect at the site of the previous trocar insertion. This long interval between fetoscopy and detection of the defect is notably unusual.

Conclusion: Herniation of ovular membranes through a myometrial defect is an uncommon and often asymptomatic complication following fetoscopy, which can be diagnosed incidentally during cesarean delivery, as in our case. The identification of this defect 12 weeks post-procedure highlights the importance of prolonged surveillance. Therefore, a thorough ultrasound assessment, including the fetus, amniotic fluid, and careful evaluation of the uterine wall for potential defects, should be considered a routine part of post-fetoscopy care.

Introduction: Prenatal ultrasound (US) and MRI guide the diagnosis and management of congenital diaphragmatic hernia (CDH). A challenge arises when one imaging modality suggests a moderate case and the other a severe case ("discordant severe CDH"). We aimed to analyze newborn outcomes for this group.

Methods: We reviewed all left-sided CDH cases at our fetal care center from 2012 to 2023. Discordant severe was defined as severe by either US (trace observed-to-expected lung-to-head ratio ≤25%) or MRI (percent predicted lung volume ≤15%) and moderate by the other. Concordant severe and concordant moderate groups were defined as both US and MRI predicting the same severity. Primary outcomes were rate of extracorporeal membrane oxygenation (ECMO) cannulation and survival to discharge.

Results: We identified 35 concordant moderate, 21 discordant severe, and 11 concordant severe CDH cases. Compared to the concordant moderate group, the discordant severe group had significantly higher ECMO cannulation rates and significantly lower survival to discharge. No significant differences were found between concordant severe and discordant severe groups.

Conclusion: Outcomes for discordant severe CDH are similar to concordant severe, suggesting teams should rely on the imaging modality that predicts the more severe categorization in the setting of discordant severe CDH.

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 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: 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: Hereditary pyropoikilocytosis (HPP) is a rare genetic disorder causing severe fetal anemia, often leading to hydrops fetalis. This study evaluates intrauterine blood transfusion (IUT) efficacy and associated genetic mutations in Northeastern Thai patients.

Methods: Eight fetuses with hydrops fetalis were identified between 17 and 30+6 weeks' gestation, with initial hematocrit levels of 8.7-16.7%.

Results: IUTs were performed at 20-36 weeks, guided by fetal hematocrit, middle cerebral artery peak systolic velocity, and fetal hemodynamic status. Five cases progressed uneventfully following IUTs, although three resulted in premature delivery. Four cases reached term, with two infants born at normal weight and two at low birth weight. Among premature cases, three had birth weights below the 10th percentile for gestational age, and one had normal weight. Five patients remain transfusion dependent. Genetic analysis revealed homozygous spectrin Providence in 4 patients, homozygous spectrin Buffalo in 1, compound heterozygous spectrin Providence/Buffalo in 2, and spectrin Providence with SPTB c.6171_6182delinsACCCCAGCT (novel) in 1. Three cases developed severe complications, including severe birth asphyxia, persistent pulmonary hypertension, and multiple organ failure, leading to death.

Conclusions: This study identified SPTB gene mutations associated with HPP. Early detection of hydrops fetalis caused by severe anemia, along with confirmation of the underlying genetic mutation, is essential for timely and effective clinical intervention. Intrauterine transfusion remains a viable therapeutic option to sustain pregnancy and enhance fetal survival. Further research is needed to refine the management strategies for HPP-associated hydrops fetalis and to improve perinatal outcomes.

Introduction: The aim of the study was to compare obstetrical, survival, and nephro-urological outcomes of fetuses diagnosed with lower urinary tract obstruction (LUTO) undergoing antenatal procedures by vesicoamniotic shunting (VAS) or fetal cystoscopy (FC).

Methods: This study was a literature search using MEDLINE, Scopus, Embase, and Cochrane reference lists. All studies reporting VAS and FC's effectiveness, complications, and technical issues in the prenatal treatment of LUTO were selected for a single-proportion meta-analysis. Two reviewers independently selected studies, extracted data, and assessed quality. We computed and declared effect sizes for estimating a single proportion using the Freeman-Turkey transformed proportion.

Results: Out of a total of 467 citations identified, 49 studies were included for a detailed evaluation of VAS and FC perinatal outcomes. Overall, VAS and FC were burdened by a similar incidence of intrauterine fetal demise (VAS: 0.51 [0.42-0.61] vs. FC: 0.47 [0.28-0.67]; p = 0.73), postnatal death (VAS: 0.87 [0.75-0.99] vs. FC: 0.86 [0.62-1.09]; p value: 0.87), and postnatal renal impairment (VAS: 1.22 [1.06-1.39] vs. FC: 0.96 [0.67-1.25]; p value: 0.12). Likewise, the two procedures were complicated by a similar rate of chorioamnionitis (VAS: 0.38 [0.28-0.47] vs. FC: 0.39 [0.12-0.66]; p value: 0.92), premature rupture of membranes/preterm premature rupture of membranes (VAS: 0.77 [0.60-0.94] vs. FC: 0.84 [0.60-1.07]; p value: 0.65), premature birth (VAS: 1.83 [1.55-2.10] vs. FC: 1.56 [0.92-2.21]: p value: 0.46), and fetal abdominal wall/intestinal problems (VAS: 0.43 [0.29-0.57] vs. FC: 0.50 [0.19-0.81]; p value: 0.69). Termination of pregnancy (TOP) was chosen significantly more often after FC than VAS (VAS: 0.65 [0.53-0.77] vs. FC: 1.18 [1.03-1.33]; p value: <0.001).

Conclusion: Our meta-analysis yields similar results in terms of obstetric, survival, and nephro-urological outcomes between VAS and FC. The higher incidence of TOP in FC over the VAS group may be associated with the fact that FC is also considered a diagnostic tool and can guide for TOP for those with more complex diseases.

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.

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: Twin-to-twin transfusion syndrome (TTTS) is associated with high perinatal morbidity and mortality. Krispin et al. [Ultrasound Obstet Gynecol. 2023;61(4):511-7] developed a prediction model to estimate the likelihood of dual twin survival after fetoscopic laser photocoagulation (FLPC). This study aimed to evaluate the predictive value of sonographic parameters at diagnosis of TTTS treated with FLPC for postnatal dual twin survival and to validate Krispin et al.'s calculator.

Methods: This is a retrospective cohort study of cases of TTTS treated by FLPC. The primary outcome was dual survival 30 days after delivery. The calculator used preoperative variables: donor's estimated fetal weight (EFW) <10th centile, intertwin growth discordance >25%, anterior placenta, pulsatility index (PI) in the umbilical artery (UA), ductus venosus (DV), and middle cerebral artery (MCA), with scores ranging 0-300.

Results: Among 157 patients, 84 (53.5%) had dual twin survival (Group A), compared to 73 (46.5%) with one or no survivors (Group B). No significant differences were seen in donor's EFW <10th centile (57.1% [A] vs. 57.5% [B], p = 0.96), intertwin growth discordance (26.2% [A] vs. 38.4% [B] p = 0.95), rates of PI >95th centile in the donor's UA and DV, and PI <5th centile in the MCA (p > 0.05). However, a significant difference was found for anterior placenta (38.1% [A] vs. 58.9% [B], p = 0.009). The observed dual survival was higher than predicted for scores ≥100.

Conclusion: We were not able to externally validate the calculator of dual survival after laser for TTTS, especially for elevated scores. Among the parameters analyzed, only anterior placenta was significantly associated with poorer outcomes.