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Utility of Whole Genome Sequencing in Fetuses With Abnormal Ultrasound Findings

20. Mai 2026 aktualisiert von: Women's Hospital School Of Medicine Zhejiang University

Clinical Study on Prenatal Diagnosis of Fetal Abnormalities of Unknown Cause Using Whole-Genome Sequencing: A Multicenter Study

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.

The main questions it aims to answer are:

How 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.

Participants are pregnant women whose fetuses have structural abnormalities seen on ultrasound or MRI, with negative results from routine genetic testing. Participants will:

Undergo 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

Studienübersicht

Status

Rekrutierung

Bedingungen

Studientyp

Beobachtungs

Einschreibung (Geschätzt)

1000

Kontakte und Standorte

Dieser Abschnitt enthält die Kontaktdaten derjenigen, die die Studie durchführen, und Informationen darüber, wo diese Studie durchgeführt wird.

Studienkontakt

Studienorte

  • China
    • Zhejiang
      • Hangzhou, Zhejiang, China, 310006
        • Rekrutierung
        • Women's Hospital School of Medicine Zhejiang University
        • Kontakt:
      • Huzhou, Zhejiang, China, 313000
        • Rekrutierung
        • Huzhou Maternity & Child Care Hospital
        • Kontakt:
      • Quzhou, Zhejiang, China, 324000
        • Rekrutierung
        • Quzhou Maternal and Child Health Care Hospital
        • Kontakt:
      • Shaoxing, Zhejiang, China, 312000
        • Rekrutierung
        • Shaoxing Maternity & Child Care Hospital
        • Kontakt:

Teilnahmekriterien

Forscher suchen nach Personen, die einer bestimmten Beschreibung entsprechen, die als Auswahlkriterien bezeichnet werden. Einige Beispiele für diese Kriterien sind der allgemeine Gesundheitszustand einer Person oder frühere Behandlungen.

Zulassungskriterien

Studienberechtigtes Alter

  • Erwachsene
  • Älterer Erwachsener

Akzeptiert gesunde Freiwillige

Nein

Probenahmeverfahren

Nicht-Wahrscheinlichkeitsprobe

Studienpopulation

Pregnant women aged 18 years or older with singleton pregnancies, whose fetuses have structural abnormalities detected by ultrasound or MRI between 11+0 and 32+0 weeks of gestation, and who are scheduled to undergo invasive or postnatal genetic diagnostic procedures.

Beschreibung

Inclusion Criteria:

  1. Pregnant women aged ≥ 18 years.
  2. Singleton pregnancy.
  3. 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/neck region, chest/mediastinum, abdomen/digestive tract, urinary system, skeletal system/limbs, 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.
  4. 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.
  5. Signed unified informed consent form, agreement to follow-up, and consent for storage and submission of samples and data according to the protocol.

Exclusion Criteria:

  1. Age < 18 years or individuals lacking full capacity for civil conduct.
  2. Twin or multiple pregnancies.
  3. 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.
  4. Refusal to consent to the storage and use of samples and data for this study.
  5. Other conditions deemed unsuitable for participation in this study by the investigator.

Studienplan

Dieser Abschnitt enthält Einzelheiten zum Studienplan, einschließlich des Studiendesigns und der Messung der Studieninhalte.

Wie ist die Studie aufgebaut?

Designdetails

Was misst die Studie?

Primäre Ergebnismessungen

Ergebnis Maßnahme
Maßnahmenbeschreibung
Zeitfenster
Diagnostic yield of WGS
Zeitfenster: 8 weeks after enrollment of the last participant
Proportion of fetuses with structural malformations or significant ultrasound abnormalities in whom whole-genome sequencing (WGS) using fetal and related tissues identifies at least one pathogenic or likely pathogenic variant. Overall diagnostic yield (including pathogenic/likely pathogenic variants and variants of uncertain significance reclassified as pathogenic/likely pathogenic based on additional evidence) will also be reported.
8 weeks after enrollment of the last participant
Comparison of diagnostic increment of WGS vs. standard clinical testing pathway
Zeitfenster: 12 weeks after enrollment of the last participant
Difference in diagnostic rate (proportion of fetuses with pathogenic/likely pathogenic variants) between whole-genome sequencing (WGS) and the current standard clinical testing pathway (karyotyping, CMA/CNV-seq, WES/panel). Stratified analysis by malformation type (e.g., isolated CNS, cardiac, skeletal, multiple systems) and by pattern of system involvement will be reported.
12 weeks after enrollment of the last participant
Number of novel candidate disease genes and enriched molecular pathways
Zeitfenster: At study completion (average 24 months after first participant enrollment)
Count of novel candidate disease genes or regulatory elements identified by integrated multi-omics analysis. List of enriched KEGG pathways and GO terms (with FDR < 0.05) associated with fetal developmental abnormalities.
At study completion (average 24 months after first participant enrollment)

Sekundäre Ergebnismessungen

Ergebnis Maßnahme
Maßnahmenbeschreibung
Zeitfenster
Phenotypic stratification system and gene pathway enrichment results
Zeitfenster: At study completion (average 24 months after first participant enrollment)
Phenotypic classification system (based on organ/system involvement: isolated, multiple, syndromic). For each subtype: (1) count and frequency of pathogenic/likely pathogenic variants; (2) count of variant types (SNV, Indel, SV, CNV); (3) list of enriched KEGG pathways and GO terms with FDR < 0.05.
At study completion (average 24 months after first participant enrollment)
Reclassification rate of variants of uncertain significance (VUS) and impact on counseling decisions
Zeitfenster: At study completion (average 24 months after first participant enrollment)
Proportion of VUS reclassified to pathogenic/likely pathogenic or benign/likely benign after multi-omics integration. Number of participants/families with altered genetic counseling or clinical decision-making (e.g., termination, prenatal intervention, postnatal follow-up plan) due to reclassification.
At study completion (average 24 months after first participant enrollment)
Establishment of a multicenter database and biobank
Zeitfenster: At study completion (average 24 months after first participant enrollment)
A unified, relational database containing de-identified clinical phenotypes, genotypes (WGS variants), multi-omics data (e.g., transcriptomic, epigenomic), and biospecimen inventory (e.g., DNA, RNA, plasma, tissue blocks) from participating centers. Database completion will be defined as ≥90% of expected participants with all required data types uploaded and quality-controlled. Biobank completion will be defined as ≥90% of expected biospecimens collected, processed, and stored with traceable metadata.
At study completion (average 24 months after first participant enrollment)
Standardized data submission and sharing protocols
Zeitfenster: At study completion (average 24 months after first participant enrollment)
Completion of a written protocol document (yes/no) covering sample submission, data formats, quality thresholds, reporting template (ACMG/AMP classification), clinical data dictionary, and de-identification rules, with sign-off obtained from all participating centers' principal investigators and data managers.
At study completion (average 24 months after first participant enrollment)

Mitarbeiter und Ermittler

Hier finden Sie Personen und Organisationen, die an dieser Studie beteiligt sind.

Sponsor

Women's Hospital School Of Medicine Zhejiang University

Studienaufzeichnungsdaten

Diese Daten verfolgen den Fortschritt der Übermittlung von Studienaufzeichnungen und zusammenfassenden Ergebnissen an ClinicalTrials.gov. Studienaufzeichnungen und gemeldete Ergebnisse werden von der National Library of Medicine (NLM) überprüft, um sicherzustellen, dass sie bestimmten Qualitätskontrollstandards entsprechen, bevor sie auf der öffentlichen Website veröffentlicht werden.

Haupttermine studieren

Studienbeginn (Tatsächlich)

12. März 2026

Primärer Abschluss (Geschätzt)

12. September 2027

Studienabschluss (Geschätzt)

12. März 2028

Studienanmeldedaten

Zuerst eingereicht

9. April 2026

Zuerst eingereicht, das die QC-Kriterien erfüllt hat

20. Mai 2026

Zuerst gepostet (Tatsächlich)

26. Mai 2026

Studienaufzeichnungsaktualisierungen

Letztes Update gepostet (Tatsächlich)

26. Mai 2026

Letztes eingereichtes Update, das die QC-Kriterien erfüllt

20. Mai 2026

Zuletzt verifiziert

1. März 2026

Mehr Informationen

Begriffe im Zusammenhang mit dieser Studie

Zusätzliche relevante MeSH-Bedingungen

Andere Studien-ID-Nummern

  • IRB-20260095-R

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