Prenatal Diagnosis最新文献_第6页

Non-Isolated Congenital Diaphragmatic Hernia. Can We Think of a Beacon of Hope? 非孤立性先天性膈疝。我们能想到希望的灯塔吗？

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-08-01 Epub Date: 2025-07-08 DOI: 10.1002/pd.6856

Isabella Fabietti, Chiara Vassallo, Milena Viggiano, Leonardo Caforio, Pietro Bagolan

{"title":"Non-Isolated Congenital Diaphragmatic Hernia. Can We Think of a Beacon of Hope?","authors":"Isabella Fabietti, Chiara Vassallo, Milena Viggiano, Leonardo Caforio, Pietro Bagolan","doi":"10.1002/pd.6856","DOIUrl":"10.1002/pd.6856","url":null,"abstract":"Background: The TOTAL Trial demonstrated the efficacy and safety of prenatal treatment of isolated severe left Congenital Diaphragmatic Hernia (CDH). Since this trial was completed, the application of the fetal approach in selected non-isolated CDH cases has become a daily clinical and ethical reality, raising the question of extending the indication to fetoscopic endotracheal occlusion (FETO) to selected non-isolated cases where no guidance is available.Method: This study examines the ethical and clinical implications of offering FETO for non-isolated Congenital Diaphragmatic Hernia (CDH). It analyzes current ethical frameworks in fetal surgery and draws comparisons with similar debates concerning patients with genetic conditions and/or neurological impairment that necessitate major procedures, such as organ transplantation. We revised the literature, including data from extensive CDH registries, to assess survival rates and the variability of associated anomalies. A multidisciplinary, patient-centered decision-making framework was developed to guide clinical considerations.Results: Recent data suggest that survival outcomes in some syndromic CDH cases may be comparable to those of isolated CDH, challenging the rationale for a priori exclusion from fetal therapy. Ethical analysis highlights the need for individualized assessments rather than categorical restrictions, emphasizing the principles of beneficence, non-maleficence, autonomy, and justice. Decision-making should extend beyond survival rates to consider long-term quality of life and parental values.Conclusions: The absence of definitive evidence should not lead to the denial of potential benefits when a reasonable chance of improved outcomes exists. Instead, a multidisciplinary, patient- and family-centered approach should guide fetal therapy decisions, ensuring ethical integrity while adapting to the evolving landscape of prenatal medicine.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1176-1181"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584651","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

Role of Biologics in Fetal Hematologic Conditions: HDFN and FNAIT. 生物制剂在胎儿血液病中的作用：HDFN和FNAIT。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-08-01 DOI: 10.1002/pd.6854

Kenneth J Moise

{"title":"Role of Biologics in Fetal Hematologic Conditions: HDFN and FNAIT.","authors":"Kenneth J Moise","doi":"10.1002/pd.6854","DOIUrl":"https://doi.org/10.1002/pd.6854","url":null,"abstract":"Maternal alloimmunization to fetal red cell and platelet antigens results in the formation of IgG antibodies that can be transported across the placenta. In more severe cases, the resulting hemolytic disease of the fetus/newborn (HDFN) is manifested by fetal anemia, hydrops and perinatal death. In the case of platelet alloimmunization, fetal/neonatal alloimmune thrombocytopenia (FNAIT) manifests as a decreased platelet count and intracranial hemorrhage. Intravenous immune globulin (IVIG) in red cell alloimmunization in cases where there has been early-onset HDFN in a previous pregnancy can result in a prolongation of the gestational age until intrauterine transfusions of red cells are needed in the treated pregnancy. In cases of maternal platelet alloimmunization, IVIG started at varying gestational ages and doses based on the severity of FNAIT in a previous pregnancy can improve perinatal outcomes. Nipocalimab, a humanized monoclonal antibody that blocks the neonatal Fc receptor, results in both a decrease in circulating levels of maternal IgG and decreased transplacental transport. This investigational drug is currently being studied through several randomized clinical trials in both HDFN and FNAIT.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144765318","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

Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell-Free DNA? A Systematic Literature Review. 在母体无浆细胞DNA中筛查胎儿新生或父系遗传致病性单核苷酸变异是否可行？系统文献综述。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-08-01 Epub Date: 2025-05-24 DOI: 10.1002/pd.6822

Kristína Valovičová, Karin E M Diderich, Wichor M Bramer, Sander Lamballais, Malgorzata Ilona Srebniak

{"title":"Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell-Free DNA? A Systematic Literature Review.","authors":"Kristína Valovičová, Karin E M Diderich, Wichor M Bramer, Sander Lamballais, Malgorzata Ilona Srebniak","doi":"10.1002/pd.6822","DOIUrl":"10.1002/pd.6822","url":null,"abstract":"Objective: Monogenic disorders (MDs), often associated with developmental delay, intellectual disability, hypotonia, or dysmorphic facial features, typically go undetected during pregnancy. These disorders are frequently caused by de novo single nucleotide variants (SNVs), which are not currently covered by routine non-invasive prenatal testing (NIPT). This screening gap limits informed decision-making in pregnancy and can lead to the unexpected birth of neonates with severe conditions. The aim of this study was to look for evidence of whether de novo SNVs can be detected through NIPT and to assess the possibility of screening for autosomal dominant MDs in cell-free DNA in maternal plasma.Methods: A systematic literature review conducted on the 27th of February 2024 identified 12 studies examining NIPT of multiple genes associated with MDs. An additional citation analysis for the four most recent studies that were included in the systematic review was conducted on 10th of April 2025. Four additional studies met our inclusion criteria and were incorporated in the final analysis.Results: The studies demonstrated that next-generation sequencing of a gene panel or whole exome could detect pathogenic single nucleotide variants in fetuses with high positive predictive values 98.9% (66.7%-100%).Conclusion: This review confirms that performing NIPT for de novo and paternally inherited pathogenic variants associated with MDs is technically possible. Ethical considerations, including disorder selection, variant disclosure, and the need for large-scale implementation studies must be addressed to assess the potential risks and ensure effective and responsible implementation.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1139-1150"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12322242/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144136331","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

Diagnostic Value of Cell-Free DNA Fetal Fraction in Patients With Prenatally Suspected Placenta Accreta Spectrum Disorder. 无细胞DNA胎儿分数对产前疑似胎盘增生谱系障碍的诊断价值。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-08-01 Epub Date: 2025-07-19 DOI: 10.1002/pd.6858

Danielle Chirumbole, Christian M Parobek, Alex Tai, Haleh Sangi-Haghpeykar, Yamely H Mendez, Spoorthi Kamepalli, Christina C Reed, Arthur Ladron de Guevara, Keneshia Lane, Claire Hoppenot, Amir A Shamshirsaz, Michael A Belfort, Jessian L Munoz, Hendrik A Lombaard

{"title":"Diagnostic Value of Cell-Free DNA Fetal Fraction in Patients With Prenatally Suspected Placenta Accreta Spectrum Disorder.","authors":"Danielle Chirumbole, Christian M Parobek, Alex Tai, Haleh Sangi-Haghpeykar, Yamely H Mendez, Spoorthi Kamepalli, Christina C Reed, Arthur Ladron de Guevara, Keneshia Lane, Claire Hoppenot, Amir A Shamshirsaz, Michael A Belfort, Jessian L Munoz, Hendrik A Lombaard","doi":"10.1002/pd.6858","DOIUrl":"10.1002/pd.6858","url":null,"abstract":"Objective: The purpose of this study was to investigate the relationship between fetal fraction (FF) and placenta accreta spectrum (PAS) pathology in patients with prenatally suspected PAS.Methods: This was a case-control study utilizing a database of pregnancies with suspected or proven PAS delivered between 6/2012 and 7/2024 at a single institution. Pregnancies were excluded if FF was not reported. The primary outcome was mean FF in pregnancies with a final clinical diagnosis of low FIGO grade (no PAS or FIGO1-2) versus high FIGO grade (FIGO3) placenta accreta. Results were reported as mean FF ± standard error of the mean. Adjusted means were also reported after assessing confounders.Results: Of the 468 pregnancies assessed, 128 met the full inclusion criteria. While the unadjusted mean FF in the low-grade group did not differ from the high-grade group (9.6% ± 0.49, n = 81 vs. 10.7% ± 0.64, n = 47; p = 0.22), the adjusted mean FF in the low-grade group was significantly lower than that in the high-grade group (9.3% ± 0.48 vs. 11.1% ± 0.64; p = 0.03).Conclusions: While FF alone is unlikely to be clinically useful in predicting PAS pathology, NIPT results have the potential to improve the diagnostic precision of other clinical tools for PAS prediction.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1160-1166"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12322255/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144668201","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

Prenatal Phenotype of a Heterozygous Missense CHD4 Variant in a Fetus With Widened Cerebral Subarachnoid Space, Increased Head Circumference and Polyhydramnios. 脑蛛网膜下腔加宽、头围增大和羊水过多胎儿杂合错义CHD4变异的产前表型

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-08-01 Epub Date: 2025-06-29 DOI: 10.1002/pd.6841

Fan Zhou, Jing Chen, Shuo Yang, Xin Chen, Yuanyuan Xiao, Shanling Liu

引用次数: 0

An Unusual Mainly Skeletal Prenatal Presentation of Cornelia de Lange Syndrome Due To a Novel Variant in NIPBL. 由于NIPBL的一种新变异导致的Cornelia de Lange综合征的异常主要骨骼产前表现。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-08-01 Epub Date: 2025-07-22 DOI: 10.1002/pd.6864

Beatrice Burzio, Giulia Rosti, Francesca Madia, Dario Paladini

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 : 2025-08-01 Epub 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

First-Trimester Fetal Cardiac Function Measurements Using Spatio-Temporal Image Correlation and Two Ultrasound-Related Post-Processing Methods: A Feasibility and Reproducibility Study. 利用时空图像相关和两种超声相关后处理方法测量妊娠早期胎儿心功能：可行性和可重复性研究。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-08-01 Epub Date: 2025-07-09 DOI: 10.1002/pd.6846

K Zandbergen, M Rousian, Q C J Griep, A H J Koning, J M J Cornette, B R Rebel, E A P Steegers, A G M G J Mulders

{"title":"First-Trimester Fetal Cardiac Function Measurements Using Spatio-Temporal Image Correlation and Two Ultrasound-Related Post-Processing Methods: A Feasibility and Reproducibility Study.","authors":"K Zandbergen, M Rousian, Q C J Griep, A H J Koning, J M J Cornette, B R Rebel, E A P Steegers, A G M G J Mulders","doi":"10.1002/pd.6846","DOIUrl":"10.1002/pd.6846","url":null,"abstract":"Objective: To study the feasibility and reproducibility of two ultrasound (US) related post-processing methods for first-trimester fetal cardiac function assessment by ventricle volume measurements.Method: First-trimester transvaginal Spatio-Temporal Image Correlation (STIC) US datasets acquired between 11+0-13+6 weeks gestational age (GA) were used to perform fetal cardiac ventricle volume (FCVV) measurements in the end-diastolic (EDVV) and end-systolic (ESVV) phases using two methods: the manual segmentation method Virtual Organ Computed-Aided AnaLysis (VOCAL) and (semi-)automated volume measuring method Virtual Reality (VR). Reproducibility was assessed by calculating the intra-, interobserver and intersystem agreement using intraclass correlation coefficients (ICCs) followed by Bland-Altman plots.Results: 25 STIC US datasets were selected. The mean GA was 13+0 weeks (SD 2.3 days) and mean crown-rump length was 68.0 mm (range 61.0-75.6 mm). The intra- and inter-observer agreement for both methods resulted in good to excellent agreement (ICCs > 0.85). Mean relative differences for all FCVV measurements were < 10.0%, except for the inter-observer agreement of the VOCAL ESVV measurement (40.6%). The inter-system agreement showed poor to moderate agreement (ICCs 0.32-0.75) and moderate to good agreement (ICCs 0.62-0.78) in terms of absolute agreement and consistency, respectively.Conclusion: FCVV measurements performed in STIC US datasets using VR are feasible and reproducible, specifically when compared to VOCAL.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1130-1138"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12322252/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144601348","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

The Ultrasound and Genetic Characteristics of Fetuses With Laterality Defects-A Prenatal Cohort in Asian Population. 侧边性缺陷胎儿的超声和遗传特征——亚洲人群产前队列研究。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-08-01 Epub Date: 2025-07-16 DOI: 10.1002/pd.6857

Wu Yi, Hua Renyi, Chen Yiyao, Wang Xiao, Chen Ping, Wang YanLin, Wang Hui

{"title":"The Ultrasound and Genetic Characteristics of Fetuses With Laterality Defects-A Prenatal Cohort in Asian Population.","authors":"Wu Yi, Hua Renyi, Chen Yiyao, Wang Xiao, Chen Ping, Wang YanLin, Wang Hui","doi":"10.1002/pd.6857","DOIUrl":"10.1002/pd.6857","url":null,"abstract":"Objective: To investigate the distribution of laterality defects in fetuses, including situs inversus totalis (SIT) and situs ambiguous (SA), and to explore the potential genetic etiology of these laterality defects.Methods: Detailed fetal echocardiography and extracardiac structural evaluations were performed. Genetic testing, including chromosomal microarray analysis, and trio exome sequencing was conducted to identify potential genetic variants.Results: The incidence of heart malformation was significantly higher in SA fetuses than in SIT group (30/31 vs. 2/36, p < 0.001). The incidence of univentricular heart with single atrium was significantly higher in right isomerism compared with left isomerism (12/19 vs. 3/12, p = 0.029), while the incidence of double outlet right ventricle was significantly higher in left isomerism (5/12 vs. 1/19, p = 0.022). Genetic testing identified variation within candidate genes of cardiac development. Except for CFAP300 c.604delG and KMT2D c.16351T>C, which were rated as \"likely pathogenic\", all other variants were categorized as variants of uncertain significance, with some fetuses having compound heterozygous variations.Conclusion: Fetuses with SA have a significantly higher likelihood of concurrent heart malformations compared with those with SIT. Genetic testing identified potential genetic variants that may play crucial roles in the mechanisms underlying normal fetal visceral positioning. Further studies are needed to explore the clinical significance of these genetic variants and to improve our understanding of the etiology and management of fetal laterality defects.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1200-1208"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12322240/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144650241","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

Serial Amnioinfusion Therapy for Treatment of Congenital Bilateral Renal Agenesis-A Systematic Review. 羊膜连续输注治疗先天性双侧肾发育不全的系统综述。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-08-01 Epub Date: 2025-07-18 DOI: 10.1002/pd.6850

Adriana Baez, Gabriele Tonni, Chryso P Katsoufis, Amanda Alladin, Ugo Maria Pierucci, Yair J Blumenfeld, Rodrigo Ruano

{"title":"Serial Amnioinfusion Therapy for Treatment of Congenital Bilateral Renal Agenesis-A Systematic Review.","authors":"Adriana Baez, Gabriele Tonni, Chryso P Katsoufis, Amanda Alladin, Ugo Maria Pierucci, Yair J Blumenfeld, Rodrigo Ruano","doi":"10.1002/pd.6850","DOIUrl":"10.1002/pd.6850","url":null,"abstract":"Serial amnioinfusion therapy (SAT) has emerged as a potential mitigatory intervention to adverse perinatal outcomes associated with congenital bilateral renal agenesis (BRA). However, its efficacy, safety, and ethical implications warrant thorough evaluation. This systematic review, developed according to PRISMA guidelines, analyzes the published data on outcomes of SAT for BRA and explores its implications. Inclusion criteria were a diagnosis of bilateral renal agenesis, therapeutic use of amnioinfusion, amnioinfusion procedure, and individual maternal and fetal outcome reports. A total of 192 published studies were identified. Among these, 11 full texts were included (N = 40). Only cases resulting in live birth and with reported maternal and neonatal outcomes were analyzed. The average number of amnioinfusions per mother was 9 (n = 23; range 1-26 infusions). Median gestational age at delivery was 33.4 weeks (n = 40; range 23.7-36.8 weeks). APGAR scores (n = 14) at 1 and 5 min were 4 and 6, respectively. Almost half of newborns died within 33 days of life (n = 19) and 7 (17.5%) survived at the time of original publication. Overall neonatal mortality was 82.5% (33 of 40). These findings suggest that SAT for BRA improves the chances of neonatal survival in the first few days to weeks of life but not consistently beyond that time. Additional advances in neonatal care are needed to improve long-term outcomes in peripartum survivors.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1182-1191"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12322254/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144668203","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