Prenatal Diagnosis最新文献_第9页

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

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

Aberrant Splicing Caused by Compound Heterozygous Variants in WDR35 Identified in a Fetus With Cranioectodermal Dysplasia 2. 在颅外胚层发育不良胎儿中发现的WDR35复合杂合变异引起的异常剪接2。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-07-01 Epub Date: 2025-05-30 DOI: 10.1002/pd.6821

Cong Zhou, Xihan Wang, Shuo Yang, Jingqun Mai, Jing Zhao, Jing Wang

{"title":"Aberrant Splicing Caused by Compound Heterozygous Variants in WDR35 Identified in a Fetus With Cranioectodermal Dysplasia 2.","authors":"Cong Zhou, Xihan Wang, Shuo Yang, Jingqun Mai, Jing Zhao, Jing Wang","doi":"10.1002/pd.6821","DOIUrl":"10.1002/pd.6821","url":null,"abstract":"Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive ciliopathy with significant involvement of the skeleton, ectoderm, retina, kidneys, liver, lungs, and occasionally the brain. Cranioectodermal dysplasia-2 (CED2) is caused by homozygous or compound heterozygous mutation in the WD repeat-containing protein 35 (WDR35). However, the current understanding of the CED2 prenatal phenotype is limited. Here, we describe the fetus at 12 + 4 weeks gestation from a Chinese family with healthy parents. The fetus presented with lymphedema, omphalocele, hydrops fetalis, abnormal posturing, hypoplasia of the ulna, hypoplasia of the radius, femoral bowing, short femur, ductus venosus agenesis, ventricular septal defect, and atrial septal defect. To our knowledge, apart from lymphedema and hydrop fetalis, no other phenotypes of the fetus described in this study have been reported in the CED2 prenatal phenotype. Compound heterozygous variants (c.3155-1G>A and c.215-8T>G) in the WDR35 were identified via trio-based exome sequencing and confirmed pathogenicity through mRNA splicing analysis in vivo. Collectively, we clarified the genetic diagnosis for the fetus with multiple ultrasound abnormalities, which is helpful for genetic counseling and early prenatal diagnosis. Meanwhile, a definitive genetic diagnosis could aid in assessing the risk of recurrence during reproduction and support further pre-implantation or prenatal diagnoses for the family. Additionally, the novel c.3155-1G>A variant expands the spectrum of WDR35 variants. The presence of omphaloceles, abnormal posturing, hypoplasia of the ulna, hypoplasia of the radius, femoral bowing, short femur, ductus venosus agenesis, ventricular septal defect, and atrial septal defect in fetus with WDR35 variants may expand the prenatal phenotypic spectrum of CED2.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1053-1057"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144187823","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

Prenatally Detected Maternally Inherited Partial Duplication of 11p15.5 ICR1 Results in Phenotypes Overlapping Russell-Silver Syndrome in Infancy. 产前检测母体遗传11p15.5 ICR1部分重复导致婴儿表型重叠罗素-银综合征

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-07-01 Epub Date: 2025-06-12 DOI: 10.1002/pd.6832

Amanda Thomas-Wilson, Mythily Ganapathi, Nina Harkavy, Corbin Schwanke, Jessica Giordano, Abdallah F Elias, Ronald J Wapner, Vaidehi Jobanputra

{"title":"Prenatally Detected Maternally Inherited Partial Duplication of 11p15.5 ICR1 Results in Phenotypes Overlapping Russell-Silver Syndrome in Infancy.","authors":"Amanda Thomas-Wilson, Mythily Ganapathi, Nina Harkavy, Corbin Schwanke, Jessica Giordano, Abdallah F Elias, Ronald J Wapner, Vaidehi Jobanputra","doi":"10.1002/pd.6832","DOIUrl":"10.1002/pd.6832","url":null,"abstract":"Differentially methylated regions (DMRs) in certain areas of the genome are subject to genomic imprinting. DMRs at chromosome 11p15.5 are associated with Beckwith-Wiedemann syndrome (BWS) and Russell-Silver Syndrome (RSS), two growth disorders with opposite phenotypes. We identified a maternally inherited duplication containing part of the 11p15 DMR in a non-anomalous fetus in first trimester using genome sequencing (GS). The ∼281kb duplication at 11p15.5 contains the entire imprinting control region 1 (ICR1) and the H19 gene but lacks the IGF2 gene and the imprinting control region 2 (ICR2). Methylation studies revealed hypomethylation of ICR1 in fetal cells as well as in the mother (leukocytes), who had a history of feeding difficulties in infancy and short stature. The duplication was inherited from the asymptomatic maternal grandmother of the fetus, who showed hypermethylation of ICR1 in leukocytes suggesting paternal inheritance. The fetus developed decelerating growth in late gestation and phenotypes overlapping those of RSS were noted in infancy. This study adds to the limited literature on partial duplications of the 11p15.5 region and their associated phenotypes, underscoring the efficacy of GS in cases involving DMRs associated with imprinting disorders.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1070-1073"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144286196","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

PIGO Gene Variants: New Insights Into Prenatal Diagnosis. PIGO基因变异：产前诊断的新见解。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-07-01 Epub Date: 2025-06-13 DOI: 10.1002/pd.6825

A Zambiasi, J Aziza, N Chassaing, M Lebrun, A Sartor, M Langeois, C Dubucs

引用次数: 0

Chorionic Villus Sampling for Rapid Confirmation of High-Risk NIPT Results for Trisomy 21, 18, and 13. 绒毛膜绒毛取样快速确认21、18和13三体的高危NIPT结果。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-07-01 Epub Date: 2025-06-17 DOI: 10.1002/pd.6837

Malgorzata I Srebniak, Marjolein Weerts, Marieke Joosten, Mark Drost, Robert Jan Galjaard, Vyne van der Schoot, Myrthe van den Born, Maarten F C M Knapen, Krista Prinsen, Jerome M J Cornette, Philip L J DeKoninck, Dimitri Papatsonis, Julia Spaan, Anneke Dijkman, Sabina de Weerd, Attie T J I Go, Karin E M Diderich, Diane Van Opstal

{"title":"Chorionic Villus Sampling for Rapid Confirmation of High-Risk NIPT Results for Trisomy 21, 18, and 13.","authors":"Malgorzata I Srebniak, Marjolein Weerts, Marieke Joosten, Mark Drost, Robert Jan Galjaard, Vyne van der Schoot, Myrthe van den Born, Maarten F C M Knapen, Krista Prinsen, Jerome M J Cornette, Philip L J DeKoninck, Dimitri Papatsonis, Julia Spaan, Anneke Dijkman, Sabina de Weerd, Attie T J I Go, Karin E M Diderich, Diane Van Opstal","doi":"10.1002/pd.6837","DOIUrl":"10.1002/pd.6837","url":null,"abstract":"Objectives: International societies recommend amniocentesis (AC) after high-risk non-invasive prenatal testing (NIPT) because of potential inconclusive results from chorionic villus sampling (CVS) caused by placental mosaicism. Our study aimed to evaluate the necessity of confirmatory amniocentesis following CVS for trisomies 21, 18, and 13 with separate analysis of cytotrophoblast (CTB) and mesenchymal core (MC).Methods: We retrospectively analyzed the confirmatory cytogenetic results between April 2017 and December 2022. CTB and MC were separated and analyzed by QF-PCR and/or SNP array, and karyotyping when needed.Results: Among 338 cases, 70% (237/339) of women underwent CVS (70.5%) and 30% (101/338) underwent AC. Mosaic trisomy in MC requiring additional amniocentesis was detected in 13.5% (5/37) of cases referred due to trisomy 13, 2.5% (4/158) of cases of trisomy 21% and 0% (0/42) of cases of trisomy 18.Conclusions: A definitive diagnosis of CVS was achieved in 97.5%, 100%, and 86.5% of patients with high-risk NIPT results for trisomy 21, 18, and 13, respectively. Moreover, our clinical practice confirms that the majority of pregnant women (70%) opted for CVS as a quick confirmatory test. We conclude that both CVS and AC can be offered when preceded by pre-test counseling on the risks of potential inconclusive results as calculated in this study.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"988-993"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12254428/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144317768","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

Genome-Wide Cell-Free DNA Analysis for Aneuploidy Detection in Miscarriages: Test Performance Meta-Analysis. 流产非整倍体检测的全基因组无细胞DNA分析：测试性能荟萃分析。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-07-01 Epub Date: 2025-05-27 DOI: 10.1002/pd.6824

Montse Pauta, Raigam J Martinez-Portilla, Ana Cecilia Jara-Ettinger, Victoria Ardiles-Ruesjas, Antoni Borrell

{"title":"Genome-Wide Cell-Free DNA Analysis for Aneuploidy Detection in Miscarriages: Test Performance Meta-Analysis.","authors":"Montse Pauta, Raigam J Martinez-Portilla, Ana Cecilia Jara-Ettinger, Victoria Ardiles-Ruesjas, Antoni Borrell","doi":"10.1002/pd.6824","DOIUrl":"10.1002/pd.6824","url":null,"abstract":"Objective: To conduct a systematic review and meta-analysis of published series examining the efficacy of genome-wide cell-free DNA (cfDNA) testing in identifying aneuploidy in pregnancies ending in miscarriage.Methods: A systematic review was conducted encompassing observational studies evaluating aneuploidy detection by genome-wide cfDNA testing in pregnancy losses before 22 weeks of gestation. A hierarchical summary receiver operating curve was employed to assess pooled sensitivity, specificity, and area under the curve (AUC) of genome-wide cfDNA versus genetic diagnostic studies in the detection of aneuploidy. Pooled aneuploidy rate, rate of no-calls, and concordance between cfDNA and diagnostic studies were analyzed using a single proportion meta-analysis based on the inverse of the variance.Results: Out of 25 eligible series, eight studies were included for analysis, comprising 552 miscarriages with informative results for both cfDNA and diagnostic testing. Pooled sensitivity, specificity, and AUC were 78% (95% CI: 71%-83%), 91% (95% CI: 86%-95%), and 92%, respectively. Pooled aneuploidy rate, the proportion of no-calls, and concordance were 61% (95% CI: 53%-69%), 4% (95% CI: 0%-12%), and 84% (95% CI: 81%-87%), respectively. In cases of positive cfDNA results, the risk of aneuploidy increased to 93%, whereas negative results yielded a 28% risk of aneuploidy.Conclusion: cfDNA testing demonstrates acceptable accuracy in predicting fetal aneuploidy when employed as a screening test in miscarriages. The main advantage of cfDNA testing is that it does not require the availability of products of conception or prior chorionic villi sampling.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"957-967"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12254433/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151487","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

Diurnal Effects on the Fraction of Fetal Cell-Free DNA in Maternal Plasma. 母体血浆中胎儿游离DNA的日影响。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-07-01 Epub Date: 2025-06-18 DOI: 10.1002/pd.6836

Alexander Gamisch, Julia Hess, Maria-Elisabeth Mustafa-Korninger

{"title":"Diurnal Effects on the Fraction of Fetal Cell-Free DNA in Maternal Plasma.","authors":"Alexander Gamisch, Julia Hess, Maria-Elisabeth Mustafa-Korninger","doi":"10.1002/pd.6836","DOIUrl":"10.1002/pd.6836","url":null,"abstract":"Objective: The discovery of fetal cell-free DNA (cfDNA) has revolutionized prenatal diagnostics through non-invasive prenatal testing (NIPT), which depends on accurately measuring the fetal fraction (FF) in maternal plasma. While FF is known to be influenced by maternal and fetal factors, the impact of intraday rhythms remains unclear. This study investigated whether FF varies based on blood draw timing.Methods: Data from 2519 euploid singleton pregnancies undergoing NIPT were analyzed. Key variables included maternal age, BMI, gestational age, fetal sex, and blood draw timing (06:50-21:00). FF was measured using the Harmony Prenatal IVD Test. Multiple linear regression identified independent predictors of FF, while intraday variation was assessed using Mann-Whitney U tests and boxplots.Results: FF showed a significant positive relationship with blood draw timing (β = 0.00176 per hour, p < 0.005), with afternoon values approximately 10% higher than morning values (∼0.01 difference). Other predictors included BMI (negative), gestational age (positive), and fetal sex (higher in females). Blood draw timing appeared to be a stronger predictor of FF than gestational age or fetal sex, second only to BMI.Conclusion: This novel finding demonstrates diurnal variation in FF, suggesting that optimizing blood draw timing could improve NIPT accuracy, particularly in borderline cases. Further research is needed to confirm the clinical implications.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"979-987"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12254438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144326721","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

In-Utero Therapy for Fetal Vascular Anomalies: Efficacy and Tolerance of Sirolimus Administered to the Pregnant Patient. 子宫内治疗胎儿血管异常：西罗莫司对妊娠患者的疗效和耐受性。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-07-01 Epub Date: 2025-06-20 DOI: 10.1002/pd.6834

Ionela Iacobas, Tara L Rosenberg, Magdalena Sanz-Cortes, Sharada H Gowda, Ahmed A Nassr, Roopali V Donepudi

引用次数: 0