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Prenatal Cell-free DNA Screening in Pregnancies With Diverse Genetic Risk Profiles Utilizing Targeted and Whole-exome Sequencing

Recruitingn/aAges 18 Years - anyFemaleWomen's Hospital School Of Medicine Zhejiang Univโ€ฆ
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In plain words

What the trial is, and whether it could suit you

This multicenter study aims to recruit a minimum of 1,600 pregnant women, encompassing individuals with varying levels of genetic risk. The study particularly focuses on cases with increased fetal nuchal translucency (NT โ‰ฅ3.5 mm), additional ultrasound markers, and/or fetal structural anomalies. Peripheral blood samples of eligible participants will be collected for two state-of-the-art cfDNA tests based on coordinative allele-aware target enrichment sequencing (COATE-seq): (1) a targeted panel to screen for frequent chromosomal aneuploidies, microdeletions/duplications, and dominant single-gene conditions, and (2) comprehensive whole-exome cfDNA sequencing for aneuploidies, microdeletions/duplications, monogenic variants (both dominant and recessive variants), uniparental disomy, and hydatidiform moles. The results of both cfDNA tests will be compared with those from invasive or postnat

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๐Ÿ“‹ Eligibility rules (as published)
Inclusion Criteria: * Adult pregnant woman (โ‰ฅ18 years old) * Gestational age between 9+0 and 25+6 weeks * Singleton pregnancy * Pregnancy with indications for prenatal diagnosis due to: * Increased nuchal translucency (NT) โ‰ฅ3.5 mm: capped at 25% of total subjects * Increased NT โ‰ฅ3.5 mm AND presence of any other "soft marker" or structural anomaly: capped at 25% of total subjects * Presence of structural anomaly: at least 50% of total subjects * Agree to participate in the clinical study for being followed-up and accept at least one molecular diagnosis (diagnostic procedures performed on prenatal invasive specimens, product of conception, umbilical cord blood, or other specimens) and possible family member testing Exclusion Criteria: * Age under 18 years * Gestational age is less than 9+0 weeks or greater than 25+6 weeks * One parent or other family member has a known pathogenic variant linked to the fetal ultrasound finding(s) * Conditions affecting the accuracy of cfDNA assay (e.g., maternal malignancy during pregnancy, maternal allogeneic blood transfusion, organ transplantation, or cell therapy within the past year)
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What it tests

  • Not listed
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Where

2 sites
Women's Hospital School Of Medicine Zhejiang University
Hangzhou, China
The Chinese University of Hong Kong
Hong Kong, Hong Kong
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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