Prenatal Diagnosis最新文献

{"title":"Lung Growth and Intrapulmonary Circulation in Fetuses With Anhydramnios Due to Severe Renal Anomalies Treated With Serial Amnioinfusions.","authors":"Edgar Hernandez-Andrade, Donatella Gerulewicz, Jerrie Refuerzo, KuoJen Tsao, Suzanne M Lopez, Rita Swinford, Percy Pacora, Eric Bergh, Amir Khan, Ramesha Papanna, Jimmy Espinoza, Anthony Johnson","doi":"10.1002/pd.6839","DOIUrl":"10.1002/pd.6839","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate changes in fetal lung size/volume and intrapulmonary circulation after serial amnioinfusions (AMI) in fetuses with early anhydramnios.</p><p><strong>Methods: </strong>Ten fetuses with anhydramnios due to renal agenesis (n = 4) or renal dysplasia (n = 6) were treated with serial AMIs. Before AMI, the following ultrasound parameters were obtained: fetal lung area, total lung volume (TLV), O/E LHR, thorax circumference (TC), cardiothoracic ratio (CTR), and pulsatility index of the main intrapulmonary artery (IPA). Differences in lung biometrics between the first and last AMIs are reported.</p><p><strong>Results: </strong>One hundred thirty-nine (median n = 14, [7-22] per patient) AMIs were performed. All deliveries were at ≥ 29 + 6 weeks/days of gestation. There were increases in lung areas (Left (z-scores (z-sc)) -1.86/-0.35; p < 0.001, Right -2.09/-0.81; p = 0.002), and in O/E LHRs (Left 0.56/0.73; p = 0.04, Right 0.57/0.73; p = 0.009). TLV increased (z-sc 0.24/0.53; p = 0.7) and IPA decreased (z-sc 0.87/0.43; p = 0.051), but differences were not significant. No differences in TC (z-sc 0.57/0.56; p = 0.97) or CTR (0.58/0.58; p = 0.1) were documented. The distribution of all lung biometric parameters across pregnancy showed values below the expected mean for gestational age.</p><p><strong>Conclusions: </strong>Fetuses with early anhydramnios treated with serial amnioinfusions showed an increase in lung size; however, this increment was below the expected mean for gestational age.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1167-1175"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144476427","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence of Critical Congenital Heart Defects Among Neonates Born With Abdominal Wall Defects.","authors":"Zane J Hellmann, Linh Buu, Shahyan Rehman, Carly Thaxton, Daniel G Solomon, Robert A Cowles","doi":"10.1002/pd.6861","DOIUrl":"10.1002/pd.6861","url":null,"abstract":"<p><strong>Introduction: </strong>We hypothesized that there is a higher prevalence of critical congenital heart defects (CCHD) among infants born with gastroschisis, which leads to worse outcomes during index neonatal intensive care unit (NICU) admission.</p><p><strong>Methods: </strong>Rates of gastroschisis, omphalocele, and CCHD were calculated from Department of Health and Human Services (HHS) annual data on all live births in the US. Separately, NICU admissions to the Pediatric Health Information System (PHIS) between 2017 and 2023 were analyzed for diagnosis of gastroschisis, omphalocele, or CCHD, as identified by ICD-10 codes.</p><p><strong>Results: </strong>Neonates diagnosed with gastroschisis carried a concomitant diagnosis of CCHD more frequently than the general population (OR = 8.18, 95% CI 5.56-12.02). Among NICU admissions to PHIS hospitals, neonates diagnosed with both gastroschisis and CCHD had higher rates of open cardiac surgery (OR = 12.20, 95% CI 2.36-63.08, p < 0.001) and mortality (OR = 9.56, 95% CI 1.72-53.07, p = 0.004) during index admission compared to the general NICU population.</p><p><strong>Discussion: </strong>The current study demonstrates that infants born with gastroschisis are more likely to be diagnosed with CCHD than the general population. A diagnosis of both gastroschisis and CCHD resulted in higher rates of open cardiac surgery and mortality during index hospital admission.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1115-1121"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144650240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fetal Anogenital Distance Correlates With Hypospadias and Curvature Severity.","authors":"Michael Frumer, David Ben-Meir, Rotem Malichi, Ron Bardin, Yinon Gilboa, Sharon Perlman","doi":"10.1002/pd.6844","DOIUrl":"10.1002/pd.6844","url":null,"abstract":"<p><strong>Objective: </strong>This study investigates the association between fetal anogenital distance (AGD) and the severity of hypospadias and penile curvature.</p><p><strong>Methods: </strong>A retrospective study of all cases referred for suspected external genital malformations, where fetal AGD measurements and postnatal clinical evaluations regarding the severity of hypospadias (none, anterior, middle, posterior) and penile curvature (none, ≤ 30°, > 30°) were available. The relationship between fetal AGD percentiles and postnatal findings was analyzed.</p><p><strong>Results: </strong>The study group comprised 54 cases. Of these, hypospadias was diagnosed in 27 cases. For the subgroups without hypospadias, anterior hypospadias, middle hypospadias, and posterior hypospadias, the mean AGD percentiles were 46% ± SD 27, 32% ± 28, 4% ± 5, and 3% ± 3, respectively. The mean AGD significantly correlated with the severity of hypospadias (Rs = -0.672). For the subgroups with no curvature, curvature ≤ 30°, and curvature > 30°, the mean AGD percentiles were 43% ± SD 28, 22% ± 29, and 2% ± 1, respectively. The mean AGD significantly correlated with the severity of curvature (Rs = -0.673). The AGD percentile was the sole significant predictor of curvature severity. Maternal age, ethnicity, conception method, medication use, and birth weight exhibited no predictive value.</p><p><strong>Conclusion: </strong>Fetal AGD is significantly associated with the severity of hypospadias and penile curvature, suggesting its potential as a valuable tool for the prenatal evaluation of male genital abnormalities.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1100-1105"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144567715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Outcome and Risk Factors for Progression of Prenatally Diagnosed Fetal Ventriculomegaly: A Retrospective Multicenter Study.","authors":"Anouk Moens, Zoe Albersnagel, Marieke B Veenhof, Phebe N Adama van Scheltema, Esther Sikkel, Mariëtte J V Hoffer, Brigitte H W Faas, Dineke Westra, Ilse Feenstra, Emilia K Bijlsma, Gijs W E Santen, Corrie E Erasmus, Cacha M P C D Peeters-Scholte","doi":"10.1002/pd.6816","DOIUrl":"10.1002/pd.6816","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the clinical outcome of fetuses with ventriculomegaly (VM), and to identify risk factors for progression of fetal VM in order to improve prenatal counseling. This was a multicenter, retrospective cohort study, comprising 229 cases with VM.</p><p><strong>Methods: </strong>VM was classified as mild, moderate, or severe and isolated or non-isolated. Genetic data were collected. Differences between VM subgroups were described, and risk factors for progression of fetal VM were identified using logistic regression analysis. Outcome was defined as the percentage of live births, termination of pregnancy (TOP) and intra-uterine fetal demise (IUFD).</p><p><strong>Results: </strong>Of the 229 cases, 109 (47.6%) had mild VM, 60 (26.2%) moderate VM, and 60 (26.2%) severe VM. Progression of VM occurred in 45/153 cases (29.4%), half of which were in the group with severe VM. Dilatation of the 3rd ventricle and neural tube defects were risk factors for progression of VM. The percentage of live births (excluding cases with TOP and unknown outcome) was 93.1% (54/58) in mild VM, 78.6% (22/28) in moderate VM and 92.6% (25/27) in severe VM. In 12/229 cases (5.2%) IUFD occurred. Genetic analysis was performed in 143/229 (62.4%) of cases, showing (likely) pathogenic abnormalities in 41/143 (28.7%) cases, predominantly in mild, non-isolated VM.</p><p><strong>Conclusions: </strong>This study confirms the clinical relevance of additional genetic investigations in all types of fetal VMs. Further larger prospective research including clinical follow-up is needed to improve prenatal counseling.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1089-1099"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12322251/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144102438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pregnancy Complications in Fetal Congenital Heart Disease: A Result of Common Early Developmental Pathways Rather Than Fetal Hemodynamics.","authors":"Maartje C Snoep, Damla Demir, Anouk M C Roestenburg, Eva Pajkrt, Elisabeth van Leeuwen, Ingeborg H Linskens, Ingmar Knobbe, Sally-Ann Clur, Lieke Rozendaal, Lotte E van der Meeren, Monique C Haak","doi":"10.1002/pd.6819","DOIUrl":"10.1002/pd.6819","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to compare placenta-related complications (adverse placental syndrome) between different types of fetal CHD based on cardiac hemodynamics.</p><p><strong>Method: </strong>All CHD cases diagnosed prenatally by fetal ECHO during 2009-2023 were selected. Exclusion criteria were as follows: multiple pregnancies, pregnancy termination, known genetic aberrations, and extracardiac anomalies. Cases were categorized into 6 groups based on theorized hemodynamic factors. Reference values for fetal growth restriction (FGR), preeclampsia (PE), pregnancy induced hypertension (PIH), and intra uterine fetal demise (IUFD) from the overall Dutch and/or European population were used.</p><p><strong>Results: </strong>After exclusion, 1293 cases were available for analysis. The incidence of FGR was 198/1247 (15.9%). There was a significant difference in FGR between the groups of CHD (p = 0.002) though it could not be correlated with aortic flow and oxygenation. There was a high incidence of PE (64/1282, 5.0%), PIH (43/1284, 3.3%), and IUFD (33/1291, 2.6%) in our cohort as compared to reference values. Nonetheless, there were no differences in PE, PIH, and IUFD between the different CHD groups.</p><p><strong>Conclusion: </strong>A high incidence of adverse placental syndrome was found though this could not be related to fetal hemodynamics. Even in CHDs without hemodynamic changes, a high incidence of these complications was found. This might be a clinical manifestation of early embryological developmental pathways that affect both the placenta and the fetal heart.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1122-1129"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12322253/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Open Spinal Dysraphism Without Hindbrain Herniation-Natural History and Postnatal Outcome.","authors":"I Bedei, C C Kik, R Axt-Fliedner, P L J DeKoninck, W Ventura, S Köhler, M Schulze, T Struffert, M Kolodziej, D Diehl, B Sass, J K H Spoor, C Keil","doi":"10.1002/pd.6855","DOIUrl":"10.1002/pd.6855","url":null,"abstract":"<p><strong>Objective: </strong>To report the natural history of fetuses with open spinal dysraphism (OSD) without hindbrain herniation (HBH) during second-trimester evaluation.</p><p><strong>Methods: </strong>A multicenter retrospective cohort study was conducted across three prenatal centers to evaluate fetuses with OSD. We reviewed cases with postnatally confirmed OSD without prenatal HBH at 19-27 weeks. Standardized prenatal evaluation consisted of repetitive ultrasound and magnetic resonance imaging. Postnatal outcome measures involved imaging, intraoperative findings and neurological function tests.</p><p><strong>Results: </strong>Among 280 fetuses with OSD, evaluated at a median gestational age of 21 weeks, a total of 12 (4%) lacked HBH. Moderate ventriculomegaly was observed in 33% of cases without HBH. Corpus callosum anomalies were not detected. Postnatally, HBH was present in 50%, while the shunt rate remained low (20%). In 80%, postnatal motor function (MF) was equal to or better based on the anatomical level. In 33%, MF after birth declined in comparison to the first fetal functional assessment in the second trimester.</p><p><strong>Conclusion: </strong>Fetuses with OSD and absent HBH in the second trimester demonstrate a low postnatal shunt rate. MF was frequently impaired at the initial second-trimester assessment, and in about a third of cases, postnatal MF seemed to have worsened. These findings may inform counseling and question the place of fetal surgery for this subgroup.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1106-1114"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12322258/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incidental Identification of Potentially Affected Individuals Through Expanded Carrier Screening During Preconception or Early Pregnancy.","authors":"Yan Lü, Jiazhen Chang, Yulin Jiang, Xiya Zhou, Na Hao, Yiqing Yu, Mengmeng Li, Kaili Yin, Xueting Yang, Qingwei Qi","doi":"10.1002/pd.6859","DOIUrl":"10.1002/pd.6859","url":null,"abstract":"<p><strong>Objective: </strong>Expanded carrier screening (ECS) is used to assess the reproductive probability of having an offspring affected by an autosomal recessive or X-linked recessive genetic disorder. Rarely, a presumably healthy individual may be identified to carry variants that could influence their health. This study aimed to investigate the incidence of potentially affected individuals, with the objective of improving counseling for ECS.</p><p><strong>Methods: </strong>A retrospective study of a cohort of 3001 individuals who sought ECS during early pregnancy or preconception was conducted. Potentially affected individuals carrying biallelic pathogenic variants for autosomal recessive diseases, as well as females carrying a heterozygous pathogenic variant for X-linked disease, were identified.</p><p><strong>Results: </strong>A total of 13 potentially affected individuals (0.43%) were identified; 5 patients were homozygous or compound heterozygous for autosomal recessive diseases, and 8 were heterozygous for X-linked diseases. The majority of the potentially affected individuals were asymptomatic (85%, 11/13) at the time of assessment. Only two patients exhibited mild clinical manifestations.</p><p><strong>Conclusion: </strong>People who intend to undergo ECS should be informed that they themselves may be identified as potentially affected individuals for whom clinical evaluation and surveillance are recommended.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1151-1159"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12322256/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144668202","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis.","authors":"Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews","doi":"10.1002/pd.6867","DOIUrl":"https://doi.org/10.1002/pd.6867","url":null,"abstract":"<p><p>Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out immune and other non-immune causes of fetal anemia. Diagnosis is made using characteristic blood smear morphology, ideally examined on a native blood sample, paired with exome sequencing. When these are inconclusive, laboratory tests such as ektacytometry and eosin-5-maleimide flow cytometry can help distinguish HPP from other membranopathies. Prenatal disease almost always requires intrauterine transfusion. In the neonatal period, HPP will continue to cause severe anemia, and patients usually remain transfusion dependent until definitive intervention. For some patients, splenectomy relieves or reduces their transfusion requirements while others continue to be transfusion dependent. This response may be related to a patient's genotype. Allogeneic stem cell transplant (SCT) is an emerging therapy that has been performed in a few patients with good outcomes. We report three additional patients with membranopathy who have undergone SCT. All were diagnosed prenatally and required transfusion support pre- and post-natally. Following SCT, all patients became transfusion independent and are doing well.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718335","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal Ultrasound Features of Biliary Atresia: Diagnostic Significance of Abnormal Gallbladder Size and Hepatic Hilar Cyst.","authors":"Wu Xu, Wen Ling, Xiaolong Ren, Guorong Lyu, Fengying Ye, Yuanfang Lai, Luyao Zhou, Lizhu Chen, Zongjie Weng","doi":"10.1002/pd.6865","DOIUrl":"https://doi.org/10.1002/pd.6865","url":null,"abstract":"<p><strong>Objective: </strong>To explore the predictive potential of prenatal ultrasound features and their capacity to differentiate biliary atresia (BA) in fetuses exhibiting biliary abnormalities.</p><p><strong>Methods: </strong>Data of pregnant women who underwent routine fetal ultrasound screening during the second trimester (18-27⁺⁶ weeks) were retrospectively analyzed in the 2018-2022 period. Fetuses with suspected biliary abnormalities in the second trimester were identified, and the cases were categorized into 5 groups: enlarged fetal gallbladder, small fetal gallbladder, non-visualized fetal gallbladder, hepatic hilar cyst, and fetal duplicated gallbladder. Follow-up assessments were conducted in the third trimester and postnatally.</p><p><strong>Results: </strong>Among the 339 cases with suspected fetal biliary abnormalities, 10 cases were postnatally diagnosed with BA. Among them, 2 cases (2.04%, 2/98) were in the small fetal gallbladder group, 3 cases (3.95%, 3/76) were in the non-visualized fetal gallbladder group, and 5 cases (20.83%, 5/24) were in the hepatic hilar cyst group. In the small fetal gallbladder, non-visualized fetal gallbladder, and total suspected fetal biliary abnormalities groups, the incidence of BA increased when accompanied by additional structural abnormalities compared with isolated cases (all p < 0.05). Within the small fetal gallbladder and non-visualized fetal gallbladder groups, a consistent feature associated with BA and gallbladder agenesis was the persistence of abnormal gallbladder size despite increasing gestational age. In the group with hepatic hilar cysts, significant prenatal differences between cystic BA and biliary dilatation were observed in cyst morphology, maximum diameter, changes in cyst size with gestational age, and fetal gallbladder size (p < 0.05). Cyst morphology, maximum diameter, and gallbladder size demonstrated potential in differentiating cystic BA from biliary dilatation. The combination of these three features achieved a sensitivity of 100% and a specificity of 94.7%.</p><p><strong>Conclusions: </strong>Persistent small or non-visualized fetal gallbladder, along with specific hepatic hilar cyst and other structural abnormalities, are crucial prenatal ultrasound findings for early diagnosis of BA. Early and repeated assessments, incorporating multi-feature observations, are essential for improving differential diagnosis and enhancing optimal outcomes.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144708570","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurosonographic Evaluation of Cerebral Cortical Development in Fetuses With Congenital Heart Disease: A Systematic Review of the Literature.","authors":"Marcelo Dantas Cerqueira Monteiro, Thatiane Lopes Valentim Di Paschoale Ostholin, Miriam Pérez-Cruz, Luana Sarmento Neves da Rocha","doi":"10.1002/pd.6862","DOIUrl":"https://doi.org/10.1002/pd.6862","url":null,"abstract":"<p><p>This systematic review collated data from neurosonography and ultrasound evaluations to assess changes in the cortical development of fetuses with congenital heart disease (CHD). Of the 135 articles identified by two independent reviewers, five that satisfied our inclusion criteria were selected. Cortical evaluation was performed by 2D and/or 3D ultrasound via either a transabdominal or transabdominal plus transvaginal approach. One study used a brain-age evaluation algorithm, while the other four measured the depths of brain fissures. Gestational age at the time of fetal evaluation was very heterogeneous, from 20 to 37 weeks. Four of the studies included several types of CHD but one included only fetuses with tetralogy of Fallot. All five studies detected significant delays in the development of brain sulci and gyri in CHD fetuses compared to controls. In general, the studies were of good methodological quality, but all showed some risk of bias. The main methodological issue was the lack of comparison of ultrasound findings with magnetic resonance imaging data. To conclude, ultrasound was found useful in the evaluation of fetal cortical development, showing that fetuses with CHD present some degree of delayed cortical development, but postnatal studies are needed to understand if it correlates with impaired neurodevelopment.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718336","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}