[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"prenatal-diagnosis\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:prenatal-diagnosis":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,39,66],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":4,"overallStatus":26,"whyStopped":4,"lastUpdateSubmitDate":27,"lastUpdatePostDateStruct":28,"startDateStruct":31,"completionDateStruct":33,"leadSponsor":35,"locationsCount":38},"100640499","utility-of-whole-genome-sequencing-in-fetuses-with-abnormal-ultrasound-findings-100640499",false,"NCT07606989","Utility of Whole Genome Sequencing in Fetuses With Abnormal Ultrasound Findings","Clinical Study on Prenatal Diagnosis of Fetal Abnormalities of Unknown Cause Using Whole-Genome Sequencing: A Multicenter Study","Inclusion Criteria:\n\n1. Pregnant women aged ≥ 18 years.\n2. Singleton pregnancy.\n3. Gestational age between 11+0 and 32+0 weeks, with ultrasound or MRI indicating a definite structural malformation in the fetus (may be with or without soft marker abnormalities) requiring prenatal diagnosis (see Appendices 1 and 2). Fetal developmental abnormalities include those of the central nervous system, cardiovascular system, craniofacial\u002Fneck region, chest\u002Fmediastinum, abdomen\u002Fdigestive tract, urinary system, skeletal system\u002Flimbs, and systemic abnormalities such as fetal hydrops, abnormally thickened placenta with hydrops, and severe growth restriction. Criteria for ultrasound soft markers and structural malformations are provided in the appendices.\n4. Planned to undergo at least one invasive or postnatal procedure for genetic diagnosis, and consent to the use of residual diagnostic samples for research testing.\n5. Signed unified informed consent form, agreement to follow-up, and consent for storage and submission of samples and data according to the protocol.\n\nExclusion Criteria:\n\n1. Age \\\u003C 18 years or individuals lacking full capacity for civil conduct.\n2. Twin or multiple pregnancies.\n3. Known parental or familial carrier status of a pathogenic variant highly consistent with the current fetal phenotype, where testing is planned only for targeted confirmation.\n4. Refusal to consent to the storage and use of samples and data for this study.\n5. Other conditions deemed unsuitable for participation in this study by the investigator.","FEMALE","18 Years",{"count":19,"type":20},1000,"ESTIMATED","OBSERVATIONAL","The goal of this observational study is to learn if whole-genome sequencing (WGS) can help find the genetic cause in fetuses with structural abnormalities that remain unexplained after standard genetic testing (such as karyotyping, chromosomal microarray, or whole-exome sequencing). It will also learn how WGS results may affect pregnancy management and family decision-making.\n\nThe main questions it aims to answer are:\n\nHow often does WGS identify a genetic cause in these fetuses? Does WGS find more genetic causes compared to standard genetic tests? Can combining WGS with other molecular analyses help discover new disease genes or pathways? Researchers will compare WGS results to results from standard genetic tests to see if WGS finds more genetic causes.\n\nParticipants are pregnant women whose fetuses have structural abnormalities seen on ultrasound or MRI, with negative results from routine genetic testing. Participants will:\n\nUndergo an invasive procedure (such as amniocentesis) or provide postnatal samples as part of their regular medical care Allow the use of leftover samples for WGS and additional molecular studies Be followed until after delivery to collect information on pregnancy outcomes and neonatal health",[24,25],"Prenatal Diagnosis","Fetal Diseases","RECRUITING","2026-05-20",{"date":29,"type":30},"2026-05-26","ACTUAL",{"date":32,"type":30},"2026-03-12",{"date":34,"type":20},"2028-03-12",{"name":36,"class":37},"Women's Hospital School Of Medicine Zhejiang University","OTHER",4,{"id":40,"slug":41,"hasResults":11,"nctId":42,"briefTitle":43,"officialTitle":43,"acronym":4,"eligibilityCriteria":44,"healthyVolunteers":45,"sex":16,"minAge":46,"maxAge":47,"enrollmentInfo":48,"targetDuration":50,"studyType":21,"phases":4,"briefSummary":51,"conditions":52,"keywords":53,"overallStatus":56,"whyStopped":4,"lastUpdateSubmitDate":57,"lastUpdatePostDateStruct":58,"startDateStruct":60,"completionDateStruct":62,"leadSponsor":64,"locationsCount":4},"100632614","mapping-of-genomic-structural-variations-in-major-birth-defects-100632614","NCT07515976","Mapping of Genomic Structural Variations in Major Birth Defects","Inclusion Criteria:\n\n* Single pregnancy with ultrasound findings of fetal structural abnormalities\n* Negative results for prenatal WES, karyotyping, CMA, etc.\n* Only one heterozygous pathogenic variant is detected in a suspected recessive genetic disorder, with no second suspected pathogenic variant identified.\n\nExclusion Criteria:\n\n* Twin\u002Fmultiple pregnancy\n* No interventional prenatal diagnosis performed\n* Refusing further testing",true,"20 Years","45 Years",{"count":49,"type":20},100,"3 Years","In the context of intricate cases with ambiguous prenatal genetic diagnoses, this project intends to carry out long - read DNA sequencing data analysis on birth defect cases and family samples. The emphasis lies on the extraction and identification of individual - specific genomic characteristics, as well as the development of detection algorithms for all categories of structural variations (SV), including complex SV. It will establish a pan - genomic reference map specific to the Chinese population to facilitate the identification of pathogenic SV in birth defect cases and family samples of the Chinese population, and delineate the detailed SV spectrum of major birth defects in the Chinese population. Additionally, the project will conduct in - depth analyses of the genetic and pathogenic roles of different types of SV in birth defects, offering a theoretical foundation for promoting the early warning, intervention, and prevention of major birth defects in China.",[24],[54,55],"structural variations","long - read DNA sequencing","NOT_YET_RECRUITING","2026-04-02",{"date":59,"type":30},"2026-04-07",{"date":61,"type":20},"2026-05-01",{"date":63,"type":20},"2027-11-30",{"name":65,"class":37},"Peking Union Medical College Hospital",{"id":67,"slug":68,"hasResults":11,"nctId":69,"briefTitle":70,"officialTitle":71,"acronym":72,"eligibilityCriteria":73,"healthyVolunteers":45,"sex":74,"minAge":75,"maxAge":76,"enrollmentInfo":77,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":79,"conditions":80,"keywords":4,"overallStatus":26,"whyStopped":4,"lastUpdateSubmitDate":85,"lastUpdatePostDateStruct":86,"startDateStruct":88,"completionDateStruct":90,"leadSponsor":92,"locationsCount":94},"100522316","normative-brain-volume-profiles-from-multicenter-fetal-mri-100522316","NCT06081036","Normative Brain Volume Profiles From Multicenter Fetal MRI","Courbes Normatives De Volumes Cérébraux Issues D'IRM Fœtales Multicentriques","MULTINORMFET","Inclusion Criteria:\n\nChild who has had, more than 3 years ago, a cerebral MRI during the fetal period in one of the 4 partner centers\n\nExclusion Criteria:\n\n* Child suffering from a commissural malformation (anomaly of the corpus callosum)\n* Child with a genetic syndrome and\u002For chromosomal abnormality and\u002For deleterious mutation\n* Child with syndromic extra-cerebral malformations (including cardiac malformations)\n* Child with intrauterine growth restriction reported in the obstetrical record\n* Child with maternal-fetal infection (TORCH, parvovirus or other) confirmed by amniotic fluid test or neonatal urine test\n* Multiple pregnancy\n* Mother with diabetes treated during pregnancy (including gestational diabetes, if treated)\n* Mother with antiepileptic medication during pregnancy\n* Alcohol or drug use\n* Presence of a sustentorial arachnoid cyst\n* Presence of an arachnoid cyst with mass effect\n* Objection from parental authority holders to participate in the study","ALL","20 Weeks","37 Weeks",{"count":78,"type":20},1423,"Fetal brain MRI is an essential diagnostic tool to inform parents about the prognosis of abnormalities detected on routine ultrasound. Recent work has shown that brain MRI measurements at the antenatal stage are predictive of the child's postnatal development. However, this work remains limited to basic research, in part because of the lack of normative curves of brain tissue volume evolution from fetal MRI acquired in clinical routine. This project aims to fill this gap. For this purpose, the project will exploit fetal MRI scans acquired in 4 French hospitals (Marseille, Nice, Montpellier and Paris): MRI scans without abnormalities will be centralized for analysis, and families who have undergone these scans will be contacted to evaluate the development of their children after birth. Normative curves will be established by applying a set of treatments developed by the laboratory in Marseille collaborating in the project. Ultimately, these curves will help to clarify the diagnosis of fetuses by providing a quantitative characterization of the normality of brain measurements.",[81,82,83,24,84],"Cortical Development Malformation","Multiparametric Magnetic Resonnance Imaging","Brain Cortical Thickness","Fetal Development","2025-06-06",{"date":87,"type":30},"2025-06-11",{"date":89,"type":30},"2024-12-02",{"date":91,"type":20},"2025-12-01",{"name":93,"class":37},"Assistance Publique Hopitaux De Marseille",1]