Whole-genome sequencing in fetuses with unexplained ultrasound findings

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 observational study investigates whether whole-genome sequencing (WGS) can identify genetic causes in fetuses with structural abnormalities after normal genetic testing. Pregnant women with singleton pregnancies between 11+0 and 32+0 weeks, and a fetus with a definite malformation, will have residual diagnostic samples analyzed by WGS. Researchers will compare WGS results to standard tests to see if WGS adds findings and whether combined analyses reveal new genes or pathways. The study also aims to understand how WGS results could impact pregnancy management and family decision-making. Invasive sampling (eg, amniocentesis) or postnatal samples will be used for research testing, with informed consent and follow-up planned.

Why it matters

Who can join: the full rules

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.

Where it's running

• Women's Hospital School of Medicine Zhejiang University
  Hangzhou, Zhejiang, China Recruiting
• Huzhou Maternity & Child Care Hospital
  Huzhou, Zhejiang, China Recruiting
• Quzhou Maternal and Child Health Care Hospital
  Quzhou, Zhejiang, China Recruiting
• Shaoxing Maternity & Child Care Hospital
  Shaoxing, Zhejiang, China Recruiting

Study contacts

• Study coordinator: Qiong Luo
• Email: luoq@zju.edu.cn
• Phone: +86 571 89998819

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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.