Prenatal Diagnosis最新文献_第3页

Open Spinal Dysraphism Without Hindbrain Herniation-Natural History and Postnatal Outcome. 无后脑疝的开放性脊柱发育异常-自然史和产后结局。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-07-08 DOI: 10.1002/pd.6855

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

{"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":"https://doi.org/10.1002/pd.6855","url":null,"abstract":"Objective: To report the natural history of fetuses with open spinal dysraphism (OSD) without hindbrain herniation (HBH) during second-trimester evaluation.Methods: 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.Results: 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.Conclusion: 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.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Prenatal Neuro-Radiological Phenotype Associated With a Recurrent Pathogenic Variant in PPP2R1A. 产前神经放射学表型与PPP2R1A复发性致病变异相关。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-07-06 DOI: 10.1002/pd.6851

Calder Hamill, Stacy Goergen, Michael Fahey, Tony Roscioli, Anita Gorrie, Helen Curd, Nikki Gelfand

引用次数: 0

A Prospective Evaluation of the Diagnostic Utility for Low-Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis. 产前样本低覆盖率基因组测序诊断效用的前瞻性评估：与染色体微阵列分析的比较。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-07-04 DOI: 10.1002/pd.6840

Yan Yin, Yuxia He, Chun Chen, Yanyan He, Jin Wang, Shengfang Qin, Hongna Wang, Kun Ma, Dahui Hu, Rui Xiao, Gang Wang, Xueyan Wang

{"title":"A Prospective Evaluation of the Diagnostic Utility for Low-Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis.","authors":"Yan Yin, Yuxia He, Chun Chen, Yanyan He, Jin Wang, Shengfang Qin, Hongna Wang, Kun Ma, Dahui Hu, Rui Xiao, Gang Wang, Xueyan Wang","doi":"10.1002/pd.6840","DOIUrl":"https://doi.org/10.1002/pd.6840","url":null,"abstract":"Objective: The present study aimed to evaluate the efficacy of LC-GS in detecting clinically relevant chromosomal abnormalities in comparison with conventional CMA within a prenatal context.Methods: We conducted a prospective study involving 200 amniotic fluid samples. All specimens were analyzed via LC-GS and traditional tests, including CMA and karyotyping. LC-GS was performed with 3X coverage to gauge its proficiency in identifying copy number variations (CNVs), aneuploidies, regions of homozygosity (ROH), and chromosome mosaicism. Data from both methods were compared to evaluate their sensitivity, specificity, and overall clinical utility.Results: LC-GS at a depth of 3X identified a total of 77 positive samples, yielding a detection rate of 38.5% (77/200). This included 17 cases of aneuploidy, 36 instances of CNVs, 20 cases linked to ROH, and 8 cases of chromosomal mosaicism. LC-GS demonstrated high concordance with CMA in aneuploidy, CNVs, ROH, and chromosomal mosaicism, achieving a diagnostic yield of 21% (42/200), with additional benefits of reduced cost. Moreover, LC-GS outperformed CMA in terms of resolution for identifying submicroscopic CNVs.Conclusion: LC-GS presents a robust alternative to CMA for prenatal diagnosis, effectively identifying aneuploidies, CNVs, chromosomal mosaicism, and ROH. It delivers comparable sensitivity and specificity in the detection of a wide spectrum of genomic abnormalities.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144567714","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}

引用次数: 0

Fetal Anogenital Distance Correlates With Hypospadias and Curvature Severity. 胎儿肛门生殖器距离与尿道下裂和弯曲程度相关。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-07-04 DOI: 10.1002/pd.6844

Michael Frumer, David Ben-Meir, Rotem Malichi, Ron Bardin, Yinon Gilboa, Sharon Perlman

{"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":"https://doi.org/10.1002/pd.6844","url":null,"abstract":"Objective: This study investigates the association between fetal anogenital distance (AGD) and the severity of hypospadias and penile curvature.Methods: 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.Results: 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.Conclusion: 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.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-04","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}

引用次数: 0

Prenatal Diagnosis of Horseshoe Lung: A Report of Three Cases and Review of the Literature. 马蹄形肺的产前诊断：附3例报告并文献复习。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-07-01 Epub Date: 2025-05-10 DOI: 10.1002/pd.6814

Benjamin Birene, Paul Maurice, Catherine Garel, Blandine Prevost, Yohan Soreze, Maud Chabaud, Jean-Marie Jouannic

{"title":"Prenatal Diagnosis of Horseshoe Lung: A Report of Three Cases and Review of the Literature.","authors":"Benjamin Birene, Paul Maurice, Catherine Garel, Blandine Prevost, Yohan Soreze, Maud Chabaud, Jean-Marie Jouannic","doi":"10.1002/pd.6814","DOIUrl":"10.1002/pd.6814","url":null,"abstract":"Objective: Horseshoe lung is a rare congenital malformation in which the lungs are fused by a parenchymal isthmus. The current literature is very limited regarding cases of prenatal diagnosis and their outcome.Method: We retrospectively examined three cases of fetuses with horseshoe lung diagnosed antenatally in our center from 2015 to 2024. Additionally, we performed a literature review using a PubMed search (MESH terms: \"horseshoe lung\" then \"horseshoe lung\" AND \"prenatal\").Results: One case was diagnosed by magnetic resonance imaging (MRI) and two by ultrasound with MRI confirmation. Two patients were referred to our center for diaphragmatic hernia (with a sac in one case). The third patient was referred because of a thoracic aorta on the very left side. After birth, costal anomalies, agenesis of the body and tail of the pancreas, and an associated pelvic kidney were diagnosed. All neonates were presented with acute respiratory distress; two had a favorable outcome, and the third died within the first few days of life.Conclusion: Horseshoe lung can be diagnosed by ultrasound. The prognostic implications of this malformation remain unclear, particularly given its frequent association with other anomalies, which often are the primary determinants of outcomes.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1027-1038"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12254439/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045244","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}

引用次数: 0

Diffusion Tensor Imaging of Fetuses With Congenital Diaphragmatic Hernia. 先天性膈疝胎儿的弥散张量成像。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-07-01 Epub Date: 2025-06-11 DOI: 10.1002/pd.6835

Usha D Nagaraj, Jonathan A Dudley, Kristin Lam, Beth M Kline-Fath, Stephanie L Merhar, Francesco T Mangano, Weihong Yuan

{"title":"Diffusion Tensor Imaging of Fetuses With Congenital Diaphragmatic Hernia.","authors":"Usha D Nagaraj, Jonathan A Dudley, Kristin Lam, Beth M Kline-Fath, Stephanie L Merhar, Francesco T Mangano, Weihong Yuan","doi":"10.1002/pd.6835","DOIUrl":"10.1002/pd.6835","url":null,"abstract":"Objective: To evaluate differences in diffusion tensor imaging (DTI) parameters in the brain between fetuses with congenital diaphragmatic hernia (CDH) and age-matched controls.Method: This retrospective IRB-approved study included fetal MRIs for CDH and gestational age (GA) matched controls with lung pathology other than CDH with normal fetal brains. Fetal DTI data were acquired in 15 noncollinear diffusion-weighting directions with the b-value at 600 s/mm2 (1 b0). Slice-to-volume registration (SVR) was employed to correct for motion artifact.Results: Twenty-eight controls (27.3 ± 4.1 weeks GA) and 26 CDH (28.1 ± 4.2 weeks GA) fetuses were included. Fractional anisotropy (FA) values were significantly higher (p < 0.05) in CDH fetuses relative to controls in 12 of 50 white matter (WM) regions examined based on ANCOVA controlling for GA. After controlling for GA, sex, and CDH side, FA values in the CDH fetuses had a significant positive correlation with observed-to-expected lung volumes in 20 of 50 WM regions and with percent predicted lung volumes in 29 of 50 WM regions.Conclusion: Our data demonstrate evidence of microstructural differences based on DTI indices in the brain between CDH fetuses and age-matched controls along with correlation with the degree of pulmonary hypoplasia.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1045-1052"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12254437/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144275798","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}

引用次数: 0

Patient Preferences and Understanding of Genome-Wide Cell-Free DNA Screening for Foetal Chromosomal Imbalances: A Survey Study. 胎儿染色体失衡的全基因组无细胞DNA筛查的患者偏好和理解：一项调查研究。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-07-01 Epub Date: 2025-06-19 DOI: 10.1002/pd.6842

Yvette Raymond, Shavi Fernando, Ben W Mol, Melody Menezes, Andrew McLennan, Simon Meagher, Amy Hill, Daniel L Rolnik

{"title":"Patient Preferences and Understanding of Genome-Wide Cell-Free DNA Screening for Foetal Chromosomal Imbalances: A Survey Study.","authors":"Yvette Raymond, Shavi Fernando, Ben W Mol, Melody Menezes, Andrew McLennan, Simon Meagher, Amy Hill, Daniel L Rolnik","doi":"10.1002/pd.6842","DOIUrl":"10.1002/pd.6842","url":null,"abstract":"Objective: To assess parental preferences, expectations and understanding of genome-wide cell-free DNA screening (gwNIPT) in Australia.Method: A cross-sectional survey study utilizing an anonymous electronic questionnaire was conducted across three participating screening services in Australia between September 2023 and November 2024. Questions pertained to respondent demographics, pre-screening counselling, and accuracy expectations of gwNIPT for various chromosomal anomalies. Statistical analyses to investigate associations between responses used Chi-squared and Fisher's exact tests, ordinal logistic regression, and the Kruskal-Wallis test.Results: There were 329 survey responses recorded, of which 216 were completed (65.7%). The most frequent source of NIPT referral was a medical doctor (74.1%), and the most common duration of pre-screening counselling was 5 minutes (41.0%). Respondents showed overwhelming interest in all anomalies included in gwNIPT as well as various phenotypic outcomes including those of uncertain clinical significance. Despite this, only a minority of patients were aware that they were undergoing genome-wide screening (38.2%), and respondents did not anticipate a statistically significant difference in screening accuracy across different anomaly types (p = 0.715).Conclusion: Respondents undergoing gwNIPT indicated a preference to receive as much genetic information about their pregnancies as possible. Pre-screening counselling should therefore include the limitations of gwNIPT.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"994-1003"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12254435/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333789","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}

引用次数: 0

Post-Axial Polydactyly and Postnatal Pulmonary Stenosis Observed With a SPRED1 Pathogenic Variant. 轴后多指畸形和出生后肺狭窄与SPRED1致病变异观察。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-07-01 Epub Date: 2025-05-28 DOI: 10.1002/pd.6829

Alexander Gibbs, Muriel Holder-Espinasse, Vijaya Ramachandran, Natalie J Chandler

引用次数: 0

Contractures of the Hands As a Prenatal Phenotype of CACNA1A-Related Disorder. 手挛缩是cacna1a相关疾病的产前表型。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-07-01 Epub Date: 2025-05-30 DOI: 10.1002/pd.6827

Lara Menzies, Alexander Gibbs, Tazeen Ashraf, Clare Beesley, Rowenna Roberts, Natalie J Chandler

引用次数: 0

Prenatal Diagnosis of Arboleda-Tham Syndrome Associated With KAT6A Variants Presented With Interrupted Inferior Vena Cava and Fetal Growth Restriction. 以下腔静脉中断和胎儿生长受限为表现的KAT6A变异相关Arboleda-Tham综合征的产前诊断

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-07-01 Epub Date: 2025-06-25 DOI: 10.1002/pd.6845

Qiu-Xia Yu, Yong-Ling Zhang, Li Zhen, Dong-Zhi Li

{"title":"Prenatal Diagnosis of Arboleda-Tham Syndrome Associated With KAT6A Variants Presented With Interrupted Inferior Vena Cava and Fetal Growth Restriction.","authors":"Qiu-Xia Yu, Yong-Ling Zhang, Li Zhen, Dong-Zhi Li","doi":"10.1002/pd.6845","DOIUrl":"10.1002/pd.6845","url":null,"abstract":"Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder characterized by core features of developmental delay and intellectual disability. While ARTHS has been documented in numerous postnatal patients, only a limited number of prenatal cases have been reported to date. We present three prenatal cases of KAT6A-related ARTHS. One case exhibited an interrupted inferior vena cava with azygos continuation to the superior vena cava at 24 weeks gestation. Two cases demonstrated retarded fetal growth during the third trimester. All three cases underwent invasive genetic investigations during pregnancy, and trio exome sequencing identified a de novo pathogenic variant in the KAT6A gene in the fetuses. The pregnancies were subsequently terminated. Our report contributes to the expansion of both the genotypic and phenotypic spectrum of ARTHS by detailing previously unreported prenatal clinical features and novel genetic variants. Furthermore, our study emphasizes that even nonspecific findings on prenatal ultrasound may warrant exome sequencing, as it provides significant benefits for families by facilitating timely diagnosis and enhancing clinical management.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1078-1081"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144497795","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}

引用次数: 0