Prenatal Diagnosis最新文献

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Universal Prenatal cfDNA-Single Gene Disorder Screening for Autosomal Dominant Conditions in a Low-Risk Cohort: A Cost-Effectiveness Analysis. 低风险队列中普遍产前cfdna -单基因疾病常染色体显性筛查:成本-效果分析
IF 3.1 2区 医学
Prenatal Diagnosis Pub Date : 2026-10-05 DOI: 10.1002/pd.70269
Megan E Bunnell, Claire H Packer, Sophie Adams, Yael Hoffman Sage
{"title":"Universal Prenatal cfDNA-Single Gene Disorder Screening for Autosomal Dominant Conditions in a Low-Risk Cohort: A Cost-Effectiveness Analysis.","authors":"Megan E Bunnell, Claire H Packer, Sophie Adams, Yael Hoffman Sage","doi":"10.1002/pd.70269","DOIUrl":"https://doi.org/10.1002/pd.70269","url":null,"abstract":"<p><strong>Objective: </strong>The use of cell free fetal DNA has expanded to include autosomal dominant single gene conditions (cfDNA-SGD). Our aim is to estimate the cost-effectiveness of a cfDNA-SGD panel in a general obstetric population as compared to offering this test only in the setting of anomalies.</p><p><strong>Methods: </strong>Using TreeAge software, we created a decision-analytic model to compare outcomes of the universal cfDNA-SGD. The screening conditions included in the current panel were separated into tiers (1, 2, 3) based on severity and life expectancy of the conditions. Outcomes included miscarriage after diagnostic procedure, termination, neonatal death, and the outcome of affected livebirth. The cost-effectiveness threshold was set at $100,000 per QALY.</p><p><strong>Results: </strong>When applied to a theoretical cohort of 3.7 million individuals, the strategy of universal cfDNA-SGD resulted in approximately 2979 fewer affected livebirths. Given the high costs of care associated with an affected liveborn, universal cfDNA-SGD was projected to be cost-saving in this model until the test cost exceeded $1094. The universal cfDNA-SGD strategy was also projected to yield an additional 10,477 maternal QALYs.</p><p><strong>Conclusion: </strong>In this model, and under the assumptions specified, universal cfDNA-SGD was projected to be cost-saving and to yield additional maternal QALYs relative to ultrasound-indicated cfDNA-SGD. These are model-based projections rather than observed outcomes; prospective implementation studies will be needed before any conclusion can be drawn about routine integration into prenatal care.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149114196","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
Clinical Performance Evaluation of Size-Selective Placental Cell-Free DNA Enrichment for Non-Invasive Prenatal Testing of Fetal Copy Number Variants. 大小选择性胎盘无细胞DNA富集用于胎儿拷贝数变异无创产前检测的临床性能评估。
IF 3.1 2区 医学
Prenatal Diagnosis Pub Date : 2026-10-04 DOI: 10.1002/pd.70262
Xiaoyi Liu, Xianzhen Cao, Liang Hu, Yanan Liu, Shuxian Zeng, Weiqiang Liu, Fengxiang Wei
{"title":"Clinical Performance Evaluation of Size-Selective Placental Cell-Free DNA Enrichment for Non-Invasive Prenatal Testing of Fetal Copy Number Variants.","authors":"Xiaoyi Liu, Xianzhen Cao, Liang Hu, Yanan Liu, Shuxian Zeng, Weiqiang Liu, Fengxiang Wei","doi":"10.1002/pd.70262","DOIUrl":"https://doi.org/10.1002/pd.70262","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the performance of low-depth non-invasive prenatal testing (NIPT) using cell-free DNA enrichment for detecting fetal copy number variations (CNVs) and to assess its clinical utility.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 86,012 pregnant women who underwent NIPT with size-selective cell-free DNA enrichment. CNVs were detected using a Hidden Markov Model. Following prenatal diagnosis of positive cases through chromosome microarray analysis (CMA), positive predictive values (PPVs) were evaluated across different CNV sizes and fetal fractions, and the accuracy of CNV breakpoint validation was assessed.</p><p><strong>Results: </strong>DNA enrichment achieved a mean fetal fraction of 18.88% ± 5.82%. A total of 340 CNVs were detected in 339 pregnant women, with an overall CNV positive rate of 0.39% [95% CI: 0.35%, 0.44%] (339/86, 012), including 249 deletions and 91 duplications. The total PPV for CNVs was 59.20% [95% CI: 52.05%, 66.00%] (119/201). For the accuracy of CNV size and position, 85.83% [95% CI: 78.01%, 91.29%] (103/120) of CNVs had size discrepancies < 25% compared to CMA, and 80.42% [95% CI: 74.71%, 85.13%] (193/240) of breakpoints were within 1 Mb. The 22q11.21 deletion was the most frequent CNV (16.76% [95% CI: 13.04%, 21.26%] (57/340)), with a PPV of 40.00% [95% CI: 25.28%, 56.61%] (16/40).</p><p><strong>Conclusion: </strong>An elevated fetal fraction improves breakpoint accuracy. In addition to increasing sequencing depth, it represents a promising technical approach to optimizing the performance of NIPT.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149114114","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 Sonographic Features of Heterozygous DLL1 Single-Nucleotide Variants and 6q27 Deletions: A Single Referral Center Retrospective Case Series. 杂合DLL1单核苷酸变异和6q27缺失的产前超声特征:单个转诊中心回顾性病例系列。
IF 3.1 2区 医学
Prenatal Diagnosis Pub Date : 2026-10-03 DOI: 10.1002/pd.70265
Xiang-Yi Jing, Qiu-Xia Yu, Yong-Ling Zhang, Jia-Chun Guo, Si-Yun Li, Ru Li, Dong-Zhi Li
{"title":"Prenatal Sonographic Features of Heterozygous DLL1 Single-Nucleotide Variants and 6q27 Deletions: A Single Referral Center Retrospective Case Series.","authors":"Xiang-Yi Jing, Qiu-Xia Yu, Yong-Ling Zhang, Jia-Chun Guo, Si-Yun Li, Ru Li, Dong-Zhi Li","doi":"10.1002/pd.70265","DOIUrl":"https://doi.org/10.1002/pd.70265","url":null,"abstract":"<p><strong>Objective: </strong>To present the prenatal sonographic features and genomic spectrum of pregnancies with fetuses with a DLL1 single-nucleotide variant (SNV) or a pure 6q27 deletion.</p><p><strong>Methods: </strong>This was a retrospective study of 20 cases with a DLL1 SNV or a pure 6q27 deletion diagnosed by prenatal genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular testing results, and pregnancy outcomes.</p><p><strong>Results: </strong>One case was diagnosed in the first trimester due to increased nuchal translucency. Thirteen cases received diagnoses in the second trimester: one resulted from abnormal non-invasive prenatal testing, one had isolated cerebellar hypoplasia, six involving isolated ventriculomegaly, and five attributed to non-isolated ventriculomegaly. Six additional cases were diagnosed in the third trimester. Copy number variations involving deletions of DLL1 were identified in 10 cases, and SNVs of DLL1 were found in an additional 10 cases.</p><p><strong>Conclusion: </strong>Our study highlights that even nonspecific findings of central nervous system on prenatal ultrasound may justify exome sequencing.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149114177","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
Opportunistic Prenatal Genetic Testing During Fetoscopic Laser Surgery for Twin-Twin Transfusion Syndrome. 双胎输血综合征胎儿镜激光手术中的机会性产前基因检测。
IF 3.1 2区 医学
Prenatal Diagnosis Pub Date : 2026-10-03 DOI: 10.1002/pd.70267
Jessian L Munoz, Cara Buskmiller, April D Adams, Ahmed A Nassr, Magdalena Sanz Cortes, Michael A Belfort, Roopali V Donepudi
{"title":"Opportunistic Prenatal Genetic Testing During Fetoscopic Laser Surgery for Twin-Twin Transfusion Syndrome.","authors":"Jessian L Munoz, Cara Buskmiller, April D Adams, Ahmed A Nassr, Magdalena Sanz Cortes, Michael A Belfort, Roopali V Donepudi","doi":"10.1002/pd.70267","DOIUrl":"https://doi.org/10.1002/pd.70267","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the feasibility, uptake and diagnostic yield of opportunistic prenatal genetic testing performed during FSLP for TTTS.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study of monochorionic pregnancies undergoing FSLP for TTTS at a single tertiary fetal therapy center between 2012 and 2023. Patients undergoing clinically indicated amnioreduction during FSLP were offered opportunistic diagnostic genetic testing. Genetic testing results, including culture failure, abnormal findings, and clinically relevant abnormalities, were assessed.</p><p><strong>Results: </strong>During the study period, 417 patients underwent FSLP for TTTS. Of these, 325 (77.9%) underwent diagnostic genetic testing. Karyotype alone was performed in 292 cases (89.8%) and karyotype with chromosomal microarray (CMA) was performed in 33 cases (10.2%). Most genetic tests were normal (96%). Eight (2.5%) showed no cellular growth for genetic analysis. Six additional findings were likely benign chromosomal and copy number variants (1.8%). Over the study period, rates of completed genetic tests increased, while exclusions due to incomplete documentation decreased substantially.</p><p><strong>Conclusions: </strong>Opportunistic genetic testing during FSLP is feasible and associated with a high rate of successful analysis. However, the yield of clinically relevant abnormalities is low. These findings support individualized counseling regarding the potential benefits, limitations, and associated costs of genetic testing during fetal surgery.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149114149","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 Neurofibromatosis Type 1: No Specific Prenatal Features Observed in Sporadic Fetal Presentations. 1型神经纤维瘤病的产前诊断:在散发的胎儿表现中没有观察到特定的产前特征。
IF 3.1 2区 医学
Prenatal Diagnosis Pub Date : 2026-10-01 Epub Date: 2026-04-29 DOI: 10.1002/pd.70164
Qiu-Xia Yu, Xiang-Yi Jing, Zhi-Qing Xiao, Si-Yun Li, Dong-Zhi Li
{"title":"Prenatal Diagnosis of Neurofibromatosis Type 1: No Specific Prenatal Features Observed in Sporadic Fetal Presentations.","authors":"Qiu-Xia Yu, Xiang-Yi Jing, Zhi-Qing Xiao, Si-Yun Li, Dong-Zhi Li","doi":"10.1002/pd.70164","DOIUrl":"10.1002/pd.70164","url":null,"abstract":"<p><strong>Objective: </strong>To present the indications for prenatal diagnosis (PND) of neurofibromatosis type 1 (NF1) in a Chinese referral medical center.</p><p><strong>Method: </strong>This study encompasses a 7-year experience in PND of NF1. The cohort consisted of women undergoing PND due to parental carrier status, as well as those whose fetuses were diagnosed with copy number variations (CNVs) involving NF1 gene or NF1 variants based on indications unrelated to parental carrier status.</p><p><strong>Results: </strong>A total of 30 cases underwent PND related to NF1. Among these, 17 cases involved a parental carrier, with pathogenic NF1 variants identified in ten fetuses while absent in seven others. Additionally, 13 cases were diagnosed incidentally during gestation due to reasons not linked to parental carrier status; this included seven instances where the indications were advanced maternal age or increased nuchal translucency and six cases presenting abnormal nonspecific fetal ultrasound findings. Within this cohort, we identified a total of 21 distinct NF1 variants across 24 unrelated cases, with c.4600C > T; p.(Arg1534Ter) being the only recurrent variant observed.</p><p><strong>Conclusions: </strong>NF1 does not exhibit specific prenatal features; sporadic fetal cases were diagnosed incidentally via the use of advanced genetic testing methods.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1796-1801"},"PeriodicalIF":3.1,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147779282","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
Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP). 培养胎儿基因组:ClinGen产前基因培养专家组(GCEP)的经验。
IF 3.1 2区 医学
Prenatal Diagnosis Pub Date : 2026-10-01 Epub Date: 2026-09-23 DOI: 10.1002/pd.70246
Stephanie N Galloway, Jessica L Giordano, Carrie Shawber, Natalie Chandler, Lauren Westerfield, Ronald J Wapner, Wendy Chung, Ignatia B Van den Veyver
{"title":"Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP).","authors":"Stephanie N Galloway, Jessica L Giordano, Carrie Shawber, Natalie Chandler, Lauren Westerfield, Ronald J Wapner, Wendy Chung, Ignatia B Van den Veyver","doi":"10.1002/pd.70246","DOIUrl":"10.1002/pd.70246","url":null,"abstract":"<p><strong>Objective: </strong>Expert prenatal focused gene-disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing.</p><p><strong>Methods: </strong>An international Prenatal Gene Curation Expert Panel assembled and systematically reviewed genes asserted to be associated with prenatal hydrops, stillbirth, or severe anomalies using the ClinGen framework.</p><p><strong>Results: </strong>The ClinGen Prenatal GCEP published evidence summaries for 63 disease relationships involving 61 genes with unique and clinically severe prenatally observed fetal phenotypes.</p><p><strong>Conclusion: </strong>The ClinGen Prenatal GCEP work addresses a gap in genomic medicine by deepening our understanding of lethal and severe prenatal phenotypes, while supporting accurate diagnosis, counseling, and future treatment strategies in prenatal care.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1703-1710"},"PeriodicalIF":3.1,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659245/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149025907","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
Fetal Brain Abnormalities in Trisomy 21 and Associated Neurodevelopmental Outcome: Key Factors to Identify Differences in Neurodevelopmental Outcome? 21三体胎儿脑异常及相关神经发育结局:识别神经发育结局差异的关键因素?
IF 3.1 2区 医学
Prenatal Diagnosis Pub Date : 2026-10-01 Epub Date: 2026-09-03 DOI: 10.1002/pd.70245
Christina Haberl, Pilar Palmrich, Eva Karner, Patric Kienast, Sarah Glatter, Florian Heinzl, Philipp Moser, Daniela Prayer, Gregor Kasprian, Julia Binder
{"title":"Fetal Brain Abnormalities in Trisomy 21 and Associated Neurodevelopmental Outcome: Key Factors to Identify Differences in Neurodevelopmental Outcome?","authors":"Christina Haberl, Pilar Palmrich, Eva Karner, Patric Kienast, Sarah Glatter, Florian Heinzl, Philipp Moser, Daniela Prayer, Gregor Kasprian, Julia Binder","doi":"10.1002/pd.70245","DOIUrl":"10.1002/pd.70245","url":null,"abstract":"<p><strong>Objective: </strong>Trisomy 21 (T21) is associated with various neurological impairments. However, the mechanisms of fetal brain development in T21 and their impact on neurodevelopmental outcomes remain unclear, limiting prenatal counseling. Therefore, this study aims to assess neuropathological changes in fetuses with T21 and the associated neurodevelopmental outcome.</p><p><strong>Method: </strong>This was a case-control study comparing brain patterns in neurosonography and MRI of fetuses with T21 to healthy controls. Additionally, neurodevelopmental outcome was assessed prospectively. Thereby, an outcome score was calculated to identify brain patterns linked to unfavorable neurodevelopmental outcomes.</p><p><strong>Results: </strong>108 fetuses were included consisting of 54 fetuses with T21 and 54 controls. In the study group, significantly more fetal brain abnormalities were found compared to the control group (p < 0.001). Brain abnormalities in T21 most commonly included ventriculomegaly (24.1%), cerebellar hypoplasia (22.2%) and widening of subarachnoid fluid spaces (20.4%). Although the neurodevelopmental score showed no significant differences based on the presence of brain abnormalities, fetuses with widened subarachnoid fluid spaces or cerebellar hypoplasia were solely associated with an unfavorable outcome score.</p><p><strong>Conclusion: </strong>Fetuses with T21 show significantly more brain abnormalities compared with healthy controls, which should be considered for prenatal counseling. Some specific brain abnormalities were demonstrated only in the group with poorer neurodevelopmental outcomes, such as cerebellar hypoplasia and widened subarachnoid fluid spaces. However, the exploratory nature of the analysis must be considered, and additional studies are highly needed.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1802-1814"},"PeriodicalIF":3.1,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659248/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148888197","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
Global Recommendations for the Use of Diagnostic Genomic Sequencing in the Prenatal Setting on Behalf of the ESHG and ISPD. 代表ESHG和ISPD在产前设置中使用诊断基因组测序的全球建议。
IF 3.1 2区 医学
Prenatal Diagnosis Pub Date : 2026-10-01 Epub Date: 2026-09-15 DOI: 10.1002/pd.70248
Zandra C Deans, Lina Basel Salmon, Kwong Wai Choy, Guido de Wert, Zirui Dong, Lilian Downie, Francesca Romana Grati, Sabine Hentze, Paula Jorge, Brynn Levy, Luca Lovrecic, Dora Mayen, Álvaro Mendes, Michael Morris, Ashley Pritchard, Raquel Gouveia Silva, Tina-Marié Wessels, Francesca Forzano, Natalie J Chandler
{"title":"Global Recommendations for the Use of Diagnostic Genomic Sequencing in the Prenatal Setting on Behalf of the ESHG and ISPD.","authors":"Zandra C Deans, Lina Basel Salmon, Kwong Wai Choy, Guido de Wert, Zirui Dong, Lilian Downie, Francesca Romana Grati, Sabine Hentze, Paula Jorge, Brynn Levy, Luca Lovrecic, Dora Mayen, Álvaro Mendes, Michael Morris, Ashley Pritchard, Raquel Gouveia Silva, Tina-Marié Wessels, Francesca Forzano, Natalie J Chandler","doi":"10.1002/pd.70248","DOIUrl":"10.1002/pd.70248","url":null,"abstract":"","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1683-1702"},"PeriodicalIF":3.1,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659256/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148977759","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
Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility. 综合分子解剖在一个高度近亲围产期队列严重畸形和强遗传易感性。
IF 3.1 2区 医学
Prenatal Diagnosis Pub Date : 2026-10-01 DOI: 10.1002/pd.70264
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine
{"title":"Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility.","authors":"Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine","doi":"10.1002/pd.70264","DOIUrl":"https://doi.org/10.1002/pd.70264","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post-mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies.</p><p><strong>Method: </strong>This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first-tier genetics, and high consanguinity (42.9%). Deep phenotyping (radiography, macroscopy, histopathology) guided singleton ES (n = 28), supplemented by GS (n = 14) for exome-negative rescue or technical validation, and trio Sanger confirmation. The inter-method agreement between morphological hypotheses and molecular diagnoses was assessed using Cohen's Kappa.</p><p><strong>Results: </strong>The IMA established a molecular diagnosis in 19 of 28 cases (67.9% yield), with system-specific yields of 100% in skeletal dysplasias (5/5), 62.5% in central nervous system defects (5/8), and 60% in cardiovascular malformations (3/5). Autosomal recessive inheritance accounted for 52.6% (10/19) of solved cases. The inter-method agreement was substantial (Cohen's Kappa = 0.81, p < 0.001). Phenotypic expansions occurred in six cases (21.4%), while nine cases (32.1%) remained unexplained.</p><p><strong>Conclusion: </strong>The IMA framework achieved a high diagnostic yield of 67.9% within a highly selected, consanguineous cohort. Although clinical yield and concordance are influenced by selection biases, comprehensive post-mortem phenotyping remains essential to resolve atypical presentations, guide variant prioritization, and optimize reproductive counseling.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149114165","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 Fetoscopic Airway Evaluation Immediately Preceding EXIT Procedure in Fetuses With Suspected Airway Obstruction. 胎儿镜下气道评估在疑似气道阻塞胎儿出生前的作用。
IF 3.1 2区 医学
Prenatal Diagnosis Pub Date : 2026-10-01 Epub Date: 2026-09-11 DOI: 10.1002/pd.70243
Daniel Sanin-Ramirez, Joan Sabria, Josep M Martinez, Mar Bennasar, Montserrat Izquierdo, Elisenda Eixarch, Eduard Gratacos
{"title":"Role of Fetoscopic Airway Evaluation Immediately Preceding EXIT Procedure in Fetuses With Suspected Airway Obstruction.","authors":"Daniel Sanin-Ramirez, Joan Sabria, Josep M Martinez, Mar Bennasar, Montserrat Izquierdo, Elisenda Eixarch, Eduard Gratacos","doi":"10.1002/pd.70243","DOIUrl":"10.1002/pd.70243","url":null,"abstract":"<p><strong>Objective: </strong>This study describes the role of pre-EXIT (Ex Utero Intrapartum Treatment) fetoscopic airway evaluation in fetuses with suspected airway obstruction.</p><p><strong>Methods: </strong>Single center, retrospective, observational study including fetuses with suspected airway obstruction undergoing fetoscopic airway evaluation prior to EXIT between 2013 and 2025.</p><p><strong>Results: </strong>Nine fetuses underwent EXIT with previous fetoscopy at a median gestational age of 35 + 6 weeks (IQR 34 + 4, 37 + 1). The most frequent indications were cervical teratoma (n = 3) and lymphangioma (n = 3). Fetoscopy confirmed airway patency in one case (11.1%), allowing de-escalation to conventional cesarean section. Airway was secured by endotracheal intubation in seven cases (77.8%) and tracheostomy was required in one (11.1%). Survival at the delivery room was 100%, and one neonate died prior to discharge.</p><p><strong>Conclusion: </strong>Fetoscopic airway evaluation prior to EXIT is a valuable adjunct in fetuses with suspected airway obstruction. It can confirm the need for EXIT, optimize the trajectory for airway access, and potentially avoid tracheostomy, improving the safety and efficiency of airway management.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1815-1820"},"PeriodicalIF":3.1,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659249/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148945562","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
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