Prenatal Diagnosis最新文献

Objectives: To evaluate the neurological development of children with prenatally detected obliterated cavum septi pellucidi.

Methods: We analyzed the presence of associated cerebral or extracerebral anomalies at the referral neurosonography and, if available, at the magnetic resonance imaging (MRI). Those children were then evaluated postnatally by a standardized neurological and neuropsychological assessment.

Results: We enrolled 16 cases with obliterated CSP. In 2/16 (12.6%) cases, neurosonography identified additional findings. Among the 14 cases in which the obliteration of the CSP was apparently isolated, MRI was performed in 5/14 cases (35.7%) and confirmed the early obliteration of the CSP. In 3/14 cases (21.4%), fluid between the membranes of the septum pellucidum was eventually found in later gestation. We evaluated postnatally 9 children. Neuropsychological findings, adjusted for the patients' varying ages, were within normal limits and neurological development was age-appropriate in all subjects examined, except for one case, with a severe neurodevelopmental disorder of unknown etiology.

Conclusions: Obliterated CSP was a transient finding in 20% of cases. Most children demonstrated typical neural development at detailed follow-up studies, except for one case with severe neurological disability.

Objective: To systematically review perinatally accessible body fluid biomarkers of gastroschisis and those associated with disease severity or postnatal morbidities.

Methods: PubMed, Embase, Web of Science, Scopus, Cochrane CENTRAL, ClinicalTrials.gov, and the International Clinical Trials Registry Platform were searched for studies reporting body fluid biomarkers obtained from women carrying a fetus or neonates with gastroschisis. The primary aim was to identify biomarkers indicating gastroschisis; secondary aims included identifying biomarkers associated with disease severity (simple vs. complex) or postnatal morbidity.

Results: Twenty-two studies were included, showing substantial heterogeneity in sampling timing, fluid type, and biomarkers assessed. Among 13 studies reporting prenatal biomarkers, amniotic fluid total protein, IL-8, and ferritin differentiated fetuses with gastroschisis from normal fetuses. Total protein correlated with disease severity. Bile acid findings were inconsistent. Increased cord blood IL-8 at delivery was associated with the presence of gastroschisis and prolonged parenteral nutrition. Neonatal urinary intestinal fatty acid-binding protein indicated the presence and severity of gastroschisis. An individual patient data meta-analysis of three studies identified four inflammatory cord blood biomarkers (IL-8, CXCL10, IL-4, and CX3CL1) associated with prolonged parenteral nutrition.

Conclusions: Several perinatally accessible biomarkers are associated with gastroschisis, and some further correlate with severity or postnatal morbidity.

Objective: We aimed to evaluate the current clinical practice regarding selective termination of pregnancy in dichorionic (DC) twin pregnancies in Italy to establish a national protocol.

Methods: This was a retrospective, multicentre analysis of selective termination in DC twin pregnancies from 2010 to 2021 performed under ultrasonographic guidance using a transabdominal injection of potassium chloride via an 18- or 20-gauge needle at a gestational age (GA) before fetal viability. Maternal and fetal characteristics and perinatal outcomes were collected accordingly. The primary outcome was preterm delivery before 32 weeks of gestation.

Results: A total of 253 patients underwent selective termination at a mean GA of 17.6 weeks. Follow-up information was available for 199 patients. The rates of fetal (6%) and neonatal (0.5%) deaths were low. The mean GA at delivery was 36.5 weeks (24-42) with 23/199 (11.5%) preterm deliveries before 32 weeks. The only variable associated with primary outcome was GA at procedure, > 18 weeks (odds ratio, 2.95 [95% confidence interval 1.07-8.09]).

Conclusion: This is the first Italian multicentre evaluation of selective termination of pregnancy in DC pregnancies. Our data suggest that the risk of preterm delivery can be reduced if the procedure is performed before 18 weeks of GA.

Objective(s): This study aims to document the abdominal and pelvic anomalies that can be demonstrated using post mortem Micro-CT, independent of whether the anomaly contributed to the main diagnosis or cause of death.

Methods: We retrospectively analyzed 1200 whole body post-mortem fetal Micro-CT scans in an unselected, consecutive cohort between 2017 and 2024. Abdominal or pelvic anomalies were categorized into internal or external anomalies.

Results: Overall, 277 individual abdominal/pelvic anomalies were identified in 196/1200 (16.3%) fetuses with a mean gestational age of 17 weeks (range 10-24; median 17, interquartile range 4), and a mean fetal body weight 96.5 g (range 0.25-484.2; median 48.3, interquartile range 105.6). Of these, 100/277 (36.1%) were abdominal only, 61/277 (22.0%) pelvic only, 27/277 (9.7%) were both, and 96/277 (34.7%) were external anomalies. The most common anomalies were abdominal-pelvic wall defects 84/277 (30.3%), and renal anomalies 77/277 (27.8%), with horseshoe kidneys 16/77 (20.8%) and cystic kidneys 13/77 (16.9%) being the most common renal anomalies. Severe maceration was identified in 80 fetuses (grade 5 or 6), although imaging was still diagnostic in most cases, with only 17/1200 (1.4%) non-diagnostic scans.

Conclusion(s): Post-mortem Micro-CT imaging can identify a wide range of abdominal/pelvic anomalies following pregnancy loss in early gestation fetuses, even in the presence of severe maceration.

Genomic sequencing has become a key tool in the investigation of foetal anomalies, with a growing shift from targeted panels to exome and genome sequencing. These broader approaches generate significantly more data, underscoring the need for robust bioinformatics pipelines. However, practices vary widely between laboratories. This systematic review explores current differences in bioinformatics workflows, the transparency of reporting, and the clinical impact of these variations. Using a search strategy from a previous review of prenatal sequencing studies (2018-2022), we identified 89 new records. Combined with 65 from the earlier review, a total of 154 articles were included. Data extraction focused on bioinformatics pipeline details across all analytical stages, with attention to clinical relevance. We found that reporting of bioinformatics methods was frequently incomplete. Tool names and versions were often omitted, quality control steps were poorly described, and filtering strategies lacked reproducibility. These deficiencies in reporting hinder readers from fully interpreting the sequencing results and understanding the potential limitations. To address this, we propose a checklist of essential bioinformatics metrics to improve reporting standards and support reproducible, clinically meaningful analyses.

Congenital heart disease (CHD) is the most frequent congenital malformation at birth and is associated with neurodevelopmental impairments. Alterations in cardiovascular physiology can lead to reduced cerebral blood perfusion and oxygenation, which negatively affects brain growth and maturation. Advanced imaging studies indicate that these aberrations in brain development can manifest as early as in utero, resulting from the inability of the fetal circulatory system to meet the increased metabolic demands of the brain. Fetal brain dysmaturation increases the susceptibility to postnatal brain injury and is related to adverse long-term neurodevelopmental outcomes throughout childhood. This emphasizes the potential for effective prenatal neuroprotective strategies in fetuses with CHD, as optimization of their intrauterine environment may prevent irreversible neurological damage and minimize long-term neurodevelopmental comorbidities. This review provides a comprehensive overview of prenatal neuroprotective strategies in fetuses with critical CHD, including in utero therapeutic interventions, prenatal surgical cardiac interventions, and modifiable prenatal and perinatal risk factors.

Objective: To present and evaluate the dynamic tongue contraction technique as a novel prenatal sonographic method for detecting soft palate clefts in fetuses with a cleft lip and palate (CLP) sequence.

Methods: This prospective cross-sectional study was conducted at a tertiary care center between September 2023 and September 2024. Seven fetuses with prenatally diagnosed CLP (16-27 weeks' gestation) and 28 control fetuses (14-32 weeks' gestation) underwent 2D ultrasound scans. Three experienced sonographers assessed soft palate integrity using a novel axial-oblique view at the tongue base during fetal tongue contraction.

Results: In all seven CLP cases involving the soft palate, a central gap became visible during tongue contraction, enabling accurate diagnosis. All control fetuses were confirmed to have an intact palate during both rest and dynamic assessment. Postnatal or post-termination confirmation was available for all CLP cases.

Conclusion: The dynamic tongue contraction technique offers a reliable and feasible method for evaluating soft palate integrity in fetuses with cleft lip (CL). This functional assessment improves diagnostic accuracy for secondary palate involvement and may complement or enhance current prenatal imaging strategies.

Objective: Malformations of cortical development (MCD) impact fetal neurodevelopment. This study evaluates the use of 3D inversion and Crystalvue and Realisticvue (3D-ICRV) technologies in diagnosing MCD prenatally.

Method: A retrospective cohort study of 232 suspected MCD patients and 50 fetuses with normal brain development who underwent fetal brain ultrasound at the Women and Children's Hospital of Xiamen (2023.1-2024.12) was conducted. Ultrasound images were collected at 20-25, 26-28, and 29+ gestational weeks. Morphological analysis and receiver operating characteristic (ROC) curves assessed diagnostic performance. Postnatal follow-up focused on motor and languagel outcomes. Genetic results were also analyzed.

Results: Among the 232 suspected patients, 57 were ultimately diagnosed with MCD, while 175 participants experienced early developmental delay that resolved or remained only mildly delayed before delivery. 3D-ICRV technology provided superior visualization of cortical structures. Fetuses with delayed sylvian fissure or parietooccipital sulcus development but normal insula had higher chances of subsequent normalization. Diagnostic accuracy improved with gestational age, with 3D models demonstrating accuracy of 0.8136, 0.8750, and 0.9831 at 20-25, 26-28, and 29+ weeks, respectively. The insula was the most predictive structure at 20-25 weeks (AUC 0.8035). Postnatal follow-up indicated that most fetuses with prenatally delayed brain development showed normal development, though some had delays.

Conclusion: 3D-ICRV technology enhances MCD diagnosis compared with 2D ultrasound. The insula is a key early diagnostic marker, aiding in early detection and clinical decisions.