Prenatal Diagnosis最新文献

{"title":"Enhancing Small-for-Gestational-Age Prediction: Multi-Country Validation of Nuchal Thickness, Estimated Fetal Weight, and Machine Learning Models.","authors":"Jiaxuan Deng, Neha Sethi A/P Naresh Sethi, Azanna Ahmad Kamar, Rahmah Saaid, Chu Kiong Loo, Citra Nurfarah Zaini Mattar, Nurul Syazwani Jalil, Shier Nee Saw","doi":"10.1002/pd.6748","DOIUrl":"10.1002/pd.6748","url":null,"abstract":"<p><strong>Objective: </strong>The first objective is to develop a nuchal thickness reference chart. The second objective is to compare rule-based algorithms and machine learning models in predicting small-for-gestational-age infants.</p><p><strong>Method: </strong>This retrospective study involved singleton pregnancies at University Malaya Medical Centre, Malaysia, developed a nuchal thickness chart and evaluated its predictive value for small-for-gestational-age using Malaysian and Singapore cohorts. Predictive performance using conjunctive (AND)/disjunctive (OR) rule-based algorithms was assessed. Seven machine learning models were trained on Malaysia data and evaluated on both Malaysia and Singapore cohorts.</p><p><strong>Results: </strong>5519 samples were collected from the University Malaya Medical Centre. Small-for-gestational-age infants exhibit significantly lower nuchal thickness (small-for-gestational-age: 4.57 [1.04] mm, appropriate-for-gestational-age: 4.86 [1.06] mm, p < 0.001). Implementing disjunctive rule (nuchal thickness < 10th centile or estimated fetal weight < 10th centile) significantly improved small-for-gestational-age prediction across all growth charts, with balanced accuracy gains of 5.83% in Malaysia (p < 0.05) and 7.75% in Singapore. The best model for predicting small-for-gestational-age was: logistic regression with five variables (abdominal circumference, femur length, nuchal thickness, maternal age, and ultrasound-confirmed gestational age), which achieved an area under the curve of 0.75 for Malaysia cohorts; support vector machine with all variables, achieved area under the curve of 0.81 for Singapore cohorts.</p><p><strong>Conclusions: </strong>Small-for-gestational-age infants demonstrate significantly reduced second-trimester nuchal thickness. Employing the disjunctive rule enhanced small-for-gestational-age prediction. Logistic regression and support vector machines show superior performance among all models, highlighting the advantages of machine learning. Larger prospective studies are needed to assess clinical utility.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"374-386"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143010312","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":"Incidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS.","authors":"Irene Mademont-Soler, Neus Castells-Sarret, Adela Cisneros, Laura Foj, Clara Benavent-Bofill, Mar Xunclà, Marina Viñas-Jornet, Andrea Ros, Natalia Rey, Ignacio Blanco, Ricard López-Ortega, María Obón, Alberto Plaja","doi":"10.1002/pd.6746","DOIUrl":"10.1002/pd.6746","url":null,"abstract":"<p><strong>Objective: </strong>The study aimed to evaluate the frequency of pathogenic copy number variants (CNVs) classified as incidental findings (IFs) in prenatal diagnosis and to develop consensus recommendations for standardizing their reporting across six centers within the Catalan public health system (XIGENICS network).</p><p><strong>Method: </strong>A retrospective review of 4219 consecutive prenatal microarrays performed within the network from 2018 to 2023 was conducted, including all referral reasons. To develop consensus recommendations, several discussion meetings were held along with an extensive review of the existing literature.</p><p><strong>Results: </strong>A total of 69 IFs were identified in 68 samples, revealing a detection rate of 1.6%. They included: 5 CNVs associated with neurodevelopmental disorders and/or congenital defects with complete penetrance, 41 CNVs for neurodevelopmental disorders and/or congenital defects with incomplete penetrance, 4 disorders that can potentially be prevented or treated, 5 non-childhood onset neurological disorders, 13 X-linked disorders (mainly STS and DMD deletions), and 1 deletion of the SHOX gene. Long-term follow-up revealed that newborns with high penetrance neurosusceptibility CNVs exhibited clinical manifestations more frequently than those with low penetrance CNVs. At the time of reporting, 52 IFs were disclosed, while 17 were not. According to the new consensus criteria, 43 IFs would now be reported, 17 would not, and 9 would depend on parental decision. CNVs consistent with the referral reason were identified in 4% of cases.</p><p><strong>Conclusion: </strong>This study represents the largest series rigorously documenting all identified IFs in consecutive pregnancies evaluated by microarray, including both reported and unreported findings. IFs were found at a higher frequency than previously recognized, underscoring the need for specific clinical attention. Comprehensive consensus reporting recommendations were developed to ensure uniformity of criteria, and an ad hoc committee was established to manage complex cases.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"326-347"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143010325","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":"Characterizing the In Utero Phenome of the Chiari II Malformation-A Network Medicine Approach, Using Fetal MRI.","authors":"Hui Shi, Daniela Prayer, Joel Leinkauf, Johannes Tischer, Xu Li, Patric Kienast, Farjad Khalaveh, Julia Binder, Gregor Kasprian","doi":"10.1002/pd.6741","DOIUrl":"10.1002/pd.6741","url":null,"abstract":"<p><strong>Objective: </strong>To apply a network medicine-based approach to analyze the phenome of the prenatal fetal MRI and biometric findings in the Chiari II malformation (CM II) to detect specific patterns and co-occurrences.</p><p><strong>Method: </strong>A single-center retrospective review of fetal MRI scans obtained in fetuses with CM II was performed. Co-occurrence analysis was utilized to generate a phenotypic comorbidity matrix and visualized by Gephi software. Traditional univariate regression and geometric thin-plate spline methodology were used to elucidate the mechanisms underlying the relationships between morphometric measurements and geometric landmarks of the spine, skull, and brain deformations.</p><p><strong>Results: </strong>The CM II phenome consists of 35 nodes interconnected by 979 edges with a density of 0.828. Key \"hubs\" identified within this network include spinal bony defects, reduced posterior fossa dimensions, and vermis ectopia. The brain edema phenotype appearing only in the fetal stage but disappearing after postnatal surgery, links to increased postnatal morbidity and demonstrates distinct shape patterns by geometric analysis. Traditional univariate regression reveals correlations among spinal defects, posterior fossa dimensions, and caudal extent of vermis ectopia. The degree of brain rearrangement versus spinal bony rearrangement shows a correlation (r = 0.721, p = 0.0023) by partial least-squares analysis.</p><p><strong>Conclusion: </strong>The CM II prenatal phenome is a multifaceted network centered around three key elements-spinal bony defects, small posterior fossa, and vermis ectopia-with strong interconnections. Fetal brain edema emerged as an exclusively prenatally detectable and transient phenotype of prognostic relevance.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"362-373"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11893518/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142927950","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":"Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies.","authors":"Natalie Burrill, Erica Schindewolf, Lisa Pilchman, Renee Wright, Haley Crane, Juliana Gebb, Nahla Khalek, Shelly Soni, Christina Paidas Teefey, Edward R Oliver, Rebecca Linn, Julie S Moldenhauer","doi":"10.1002/pd.6735","DOIUrl":"10.1002/pd.6735","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the exome sequencing (ES) detection rate among fetuses with congenital anomalies and describe the rates in the setting of multiple versus isolated anomalies, perinatal autopsy, and family history of a previously affected child.</p><p><strong>Methods: </strong>A single-center retrospective chart review was conducted on 397 anomalous fetuses that underwent ES from May 2012 through December 2023. Medical record review included demographics, imaging, and genetic testing.</p><p><strong>Results: </strong>The overall ES diagnostic rate was 34.3%. The rate of diagnosis was 31.6% in fetuses with a single anomaly and 42.6% in fetuses with 4 or more major organ systems involved. Of the fetuses with a single anomaly, lymphatic, craniofacial, skeletal, and neurological anomalies had the highest diagnostic rate on ES. 38.6% of deceased fetuses who underwent autopsy had a genetic diagnosis. Additionally, families who had a previously affected child had a 45.5% diagnostic rate.</p><p><strong>Conclusions: </strong>ES is an important tool that should be offered in pregnancies affected with congenital abnormalities or at the time of fetal demise or termination. The diagnostic rate of ES in the prenatal setting is also highly dependent on comprehensive phenotyping. With diagnostic ES results, reproductive technology and testing options are available in subsequent pregnancies.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"310-317"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142915371","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":"Outcomes of Intrauterine Interventions in Twin Reversed Arterial Perfusion (TRAP) Sequence: A Systematic Review of the Literature Over the Past 35 Years.","authors":"Gabriele Tonni, Roberta Granese, Giosuè Giordano Incognito, Gianpaolo Grisolia, Mario Lituania, Waldo Sepulveda, Valter Lacerda de Andrade, Rodrigo Ruano","doi":"10.1002/pd.6725","DOIUrl":"10.1002/pd.6725","url":null,"abstract":"<p><p>Twin reversed arterial perfusion (TRAP) sequence is an uncommon disease affecting monochorionic twin pregnancies. The diagnosis can be made by ultrasound allowing to plan optimal antenatal management. An electronic search was conducted from inception to July 2024 to systematically evaluate and compare the outcomes of different intrauterine interventions in this condition. Eighty-two studies were included, and 859 women with a prenatal ultrasound diagnosis of TRAP sequence with a total of 1763 fetuses were studied. The mean maternal age was 24.2 years (range 19-40) and the mean gestational age at diagnosis was 19.6 weeks (range 10-32). A total of 792 pregnancies were reported in which a fetal intervention was performed over the past 35 years. The mean gestational age at fetal intervention was 22.1 weeks (range 11-32). The two most frequent fetal interventions were radiofrequency ablation, performed in 293 cases and laser umbilical cord coagulation in 140 cases. Overall, 684 out of 828 non-acardiac fetuses following fetal intervention survived (82.6%) compared with 49 out of 76 (64.5%) non-acardiac fetuses in pregnancies managed expectantly (p = 0.0001). A higher survival rate was seen in fetuses undergoing umbilical cord ligation (100%) although this procedure was performed in only 8 women. Survival rates were 88.9%, 79.9%, 78.9% and 77.9% for monopolar coagulation of the umbilical cord, laser coagulation of the umbilical cord, fetoscopic laser ablation of placental anastomoses and radiofrequency ablation, respectively. Our results show that the survival rate is higher in patients with TRAP who have a prenatal intervention compared with those who have prenatal expectant management. The survival rate varies depending on the modality used for the prenatal intervention. Future studies are necessary to investigate the impact of the gestational age at the time of the procedure on the survival rate depending on the prenatal therapeutic modality.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"396-422"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143010328","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":"Use of Clinically Informed Strategies and Diagnostic Yields of Genetic Testing for Fetal Structural Anomalies Following a Non-Diagnostic Microarray Result: A Population-Based Cohort Study.","authors":"Victoria M Allen, Erica Schollenberg, Erika Aberg, Jo-Ann K Brock","doi":"10.1002/pd.6759","DOIUrl":"10.1002/pd.6759","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the performance of targeted gene sequencing, expanded gene panels, and selected exomes for prenatally identified fetal anomalies, after non-diagnostic microarray results.</p><p><strong>Method: </strong>All fetal samples received for genetic testing for fetal structural anomalies in the Canadian Maritime Provinces (2014-2022) were identified. Utilization and results of NGS sequencing strategies after a non-diagnostic microarray were correlated with ultrasound findings and autopsy results.</p><p><strong>Results: </strong>Five hundred and ninety-three cases of fetal anomalies with non-diagnostic RAD results were identified, including 319 (54%) with isolated anomalies. Diagnostic yield from the microarray was 7.5%. Sequence-based testing for 131 cases gave an overall diagnostic yield of 38% (8.4% of initial cohort). For isolated anomalies, diagnostic yield was highest in the intracranial, renal, and musculoskeletal systems (44%, 60%, 64% respectively). Appropriate targeted gene sequencing provided a diagnostic yield of 40%. With clinically indicated criteria for exome analysis, diagnostic yields were higher than when clinical information prompted use of a selected gene panel (73% vs. 27%). Expanding to an exome after a non-diagnostic gene panel had an additional diagnostic yield of 13%.</p><p><strong>Conclusion: </strong>Multidisciplinary review and comprehensive clinical information can inform the selection of strategies for expanded genetic testing after non-diagnostic microarray for fetal anomalies within a publicly funded health care system.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"318-325"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425923","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":"Chromosomal Aberrations in Fetuses With Isolated Persistent Right Umbilical Vein-A Nationwide Study.","authors":"Cathrine Vedel, Richard Farlie, Laura Vase, Lise Hald Nielsen, Ann Nygaard Jensen, Sidsel Svennekjaer Barken, Karina Hjort-Pedersen, Olav Bjørn Petersen","doi":"10.1002/pd.6749","DOIUrl":"10.1002/pd.6749","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the prevalence of chromosomal aberrations in fetuses with isolated PRUV in a nationwide cohort with 1st-trimester screening for aneuploidies.</p><p><strong>Method: </strong>A retrospective study including all pregnancies in Denmark with a due date between 2010 and 2022. We retrieved all cases from patient files, where we searched for \"PRUV\" in the conclusion field. All retrieved cases were manually assessed to determine if PRUV was present, associated anomalies were present, and genetic tests were performed including results. Additional data on postnatal genetics were retrieved from the Danish Cytogenetic Central Registry.</p><p><strong>Results: </strong>A total of 262 cases with PRUV were retrieved, of which 19 (7.3%) had associated malformations. Among the isolated cases, 119 (49.0%) had a prenatal invasive genetic test that consisted of CMA, and 5 cases had an NIPT (2.1%): All tests were normal or showed low risk for aneuploidies, respectively. None of the children born with PRUV had a postnatal genetic test performed.</p><p><strong>Conclusion: </strong>We found no chromosomal aberrations in fetuses with isolated or non-isolated PRUVs. Isolated PRUV does not seem associated with a higher incidence of chromosomal aberrations, so parents can be reassured. However, since PRUV was associated with other malformations in 7% of cases, thorough scans are needed.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"348-351"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11893513/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143053316","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":"Prenatal exome sequencing for the morphologically normal fetus: Should we be doing it?","authors":"Zhi Gao, Xiaofan Zhu, Huanan Ren, Yanfei Wang, Chunxiao Hua, Xiangdong Kong","doi":"10.1002/pd.6624","DOIUrl":"10.1002/pd.6624","url":null,"abstract":"<p><strong>Objective: </strong>We aimed to investigate the yield of prenatal exome sequencing (pES) in morphologically normal fetuses.</p><p><strong>Method: </strong>This retrospective study analyzed 254 families with morphologically normal fetuses who underwent prenatal trio exome sequencing based on parental request between September 2020 and October 2023.</p><p><strong>Results: </strong>Overall, abnormal findings were detected in 8 families (3.1%, 8/254) by pES. Among these, 6 families (2.3%, 6/254) were found to have fetuses affected with monogenic disorders (2 autosomal recessive conditions and 4 autosomal dominant conditions), while 2 families (0.8%, 2/254) were incidentally found to be couples at risk of having a future pregnancy with a recessive condition. Among the six fetuses detected with monogenic disorders, two fetuses carried a de novo variant in OPA1 and NF1, which are known to cause Optic atrophy 1 and Neurofibromatosis, respectively. One fetus was detected with a maternally inherited variant in PKD2 related to polycystic kidney disease 2 (not known to the mother until then). One fetus was detected with a maternally inherited variant in SDHB associated with Pheochromocytoma. Two fetuses carried compound heterozygous variants in NAGLU and GJB2 associated with Mucopolysaccharidosis type IIIB and Deafness, respectively. In the 2 families where parents were found to be carriers but the fetuses were unaffected, heterozygous variants in the GJB2 and SERPINB7 genes were detected in the parents, respectively, which are associated with deafness and palmoplantar keratoderma.</p><p><strong>Conclusion: </strong>Our research indicated that pES can provide significant critical information for families with morphologically normal fetuses. Prenatal screening with exome sequencing requires careful management and detailed pre-test and post-test genetic counseling.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"287-293"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141306685","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":"Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.","authors":"Michal Levy, Shira Lifshitz, Mirela Goldenberg-Fumanov, Lily Bazak, Rayna Joy Goldstein, Uri Hamiel, Rachel Berger, Shlomo Lipitz, Idit Maya, Mordechai Shohat","doi":"10.1002/pd.6585","DOIUrl":"10.1002/pd.6585","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to assess the detection rate of clinically significant results of prenatal exome sequencing (pES) in low-risk pregnancies and apparently normal fetuses in non-consanguineous couples.</p><p><strong>Methods: </strong>A retrospective analysis of pES conducted at a single center from January 2020 to September 2023 was performed. Genetic counseling was provided, and detailed medical histories were obtained. High-risk pregnancies were excluded due to major ultrasound anomalies, sonographic soft markers, abnormal maternal biochemical screening, or family history suggestive of monogenic diseases as well as cases with pathogenic and likely pathogenic (P/LP) chromosomal microarray results. Exome analysis focused on ∼2100 genes associated with Mendelian genetic disorders. Variant analysis and classification followed the American College of Medical Genetics and Genomics (ACMG) guidelines.</p><p><strong>Results: </strong>Among 1825 pES conducted, 1020 low-risk cases revealed 28 fetuses (2.7%) with potentially clinically significant variants indicating known monogenic diseases, primarily de novo dominant variants (64%). Among these 28 cases, 9 fetuses (0.9%) had the potential for severe phenotypes, including shortened lifespan and intellectual disability, and another 12 had the potential for milder phenotypes. Seven cases were reported with variants of uncertain significance (VUS) that, according to the ACMG criteria, leaned toward LP, constituting 0.7% of the entire cohort. Termination of pregnancy was elected in 13 out of 1020 cases (1.2%) in the cohort, including 7/9 in the severe phenotypes group, 2/12 in the milder phenotype group, and 4/7 in the VUS group.</p><p><strong>Conclusion: </strong>The 2.7% detection rate highlights the significant contribution of pES in low-risk pregnancies. However, it necessitates rigorous analysis, and comprehensive genetic counseling before and after testing.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"276-286"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11893517/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140912467","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":"Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group.","authors":"Guillaume Cogan, Marie-Bérengère Troadec, Françoise Devillard, Marie-Hélène Saint-Frison, David Geneviève, François Vialard, Emmanuelle Rial-Sebbag, Delphine Héron, Tania Attie-Bitach, Alexandra Benachi, Pascale Saugier-Veber","doi":"10.1002/pd.6692","DOIUrl":"10.1002/pd.6692","url":null,"abstract":"<p><strong>Objective: </strong>Prenatal whole exome sequencing (pES) is increasingly prescribed for fetuses with ultrasound anomalies. Starting from the local French prenatal medicine practice, healthcare system and legal landscape, we aimed to address the broad medical and ethical issues raised by the use of pES for women and couples as well as for prenatal care providers.</p><p><strong>Method: </strong>The French Federation of Human Genetics established a working group composed of clinicians and biologists from all over France to discuss pES challenges. A literature review was also performed.</p><p><strong>Results: </strong>We emphasize the importance of non-directive information that helps couples make a decision that is consistent with their personal values and ideas. We address the difficulty of obtaining informed consent that respects the couple's autonomy, despite the complexity of the information and regardless of their level of education and cultural background. We address whether variants of uncertain significance and unsolicited results should be reported. We emphasize the need for national harmonization of access to pES and the need for multidisciplinary meetings in complex situations. We point out that the specific French context of healthcare financing and the French law have a major influence on medical care organization and support for couples. The outcome of the working group is the development of 12 proposals.</p><p><strong>Conclusion: </strong>This opinion statement, dedicated to prenatal care providers worldwide although linked to the French context, will provide food for thought and assist them in understanding the complexity and implications of pES.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"299-309"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11893516/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142626490","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}