Using genomic sequencing to diagnose birth defects in newborns

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 study evaluates the effectiveness of Next Generation Sequencing (NGS) technology in diagnosing birth defects and genetic diseases in neonates. By comparing NGS with traditional Sanger sequencing, the study aims to determine if NGS can shorten examination times, improve diagnosis rates, and guide personalized treatment options. The research focuses on neonates in the Neonatal Intensive Care Units (NICUs) who present with undiagnosed illnesses or specific genetic concerns. Participants will undergo genetic screening based on their clinical symptoms, with blood samples collected for DNA analysis.

Why it matters

Who can join: the full rules

Inclusion Criteria:

One of the following criteria required.

1. Neonates admitted to the Neonatal Intensive Care Units in one of the study hospitals
2. Clinical genetic testing or a genetic consult is ordered
3. Subject has one major structural anomaly or three or more minor anomalies
4. Abnormal laboratory testing suggestive of a genetic disease
5. Abnormal response to standard therapy for a major underlying condition

Exclusion Criteria:

1. Previously performed exome/genome sequencing on patient
2. Any infant in which clinical considerations preclude drawing 1.0 ml of blood
3. Has features pathognomonic for a large chromosomal aberration (Trisomy 13, 18, 21 or other)
4. Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician
5. Parents refuse consent

Where it's running

• Children Hospital of Fudan University
  Shanghai, Shanghai Municipality, China Recruiting

Study contacts

• Study coordinator: Wenhao Zhou, Doctor
• Email: zwhchfu@126.com

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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.