Prenatal cfDNA Screening in Pregnancies with Diverse Genetic Risk Profiles

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This multicenter observational study enrolls about 1,600 pregnant women from multiple sites to evaluate a COATE-seq based non-invasive prenatal screening platform. The test combines a targeted panel for common aneuploidies and microdeletions with whole-exome cfDNA sequencing to detect both monogenic and chromosomal abnormalities. Results from cfDNA testing will be compared with invasive or postnatal diagnostic results, with pregnancy outcomes followed for up to six weeks postpartum. Variant interpretation follows ACMG/AMP guidelines, reporting only pathogenic or likely pathogenic findings linked to severe outcomes. The study benchmarks performance against standard diagnostic methods such as karyotyping, CMA, targeted sequencing, WES, and WGS.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Adult pregnant woman (≥18 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) ≥3.5 mm: capped at 25% of total subjects
  * Increased NT ≥3.5 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)

Where it's running

• Women's Hospital School Of Medicine Zhejiang University
  Hangzhou, Zhejiang, China Recruiting
• The Chinese University of Hong Kong
  Hong Kong, Hong Kong Recruiting

Study contacts

• Study coordinator: Jinglan Zhang, PhD
• Email: jinglanzhang@foxmail.com
• Phone: 86-18057173728

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.