Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeUp to 28
SponsorChildren's Hospital of Fudan University
About this trial
The purpose of study is to evaluate the benefits of using the Next Generation Sequencing Technology to diagnose birth defects and genetic diseases. The results from genomic sequencing can also significantly shorten the time of examination, improve the diagnosis rate, guide the clinical treatments. So the ultimate goal is individualized or personalized therapy and promote prognosis.
Eligibility criteria
Qualifiers
Neonates admitted to the Neonatal Intensive Care Units in one of the study hospitals
Clinical genetic testing or a genetic consult is ordered
Subject has one major structural anomaly or three or more minor anomalies
Abnormal laboratory testing suggestive of a genetic disease
Disqualifiers
Previously performed exome/genome sequencing on patient
Any infant in which clinical considerations preclude drawing 1.0 ml of blood
Has features pathognomonic for a large chromosomal aberration (Trisomy 13, 18, 21 or other)
Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician
Trial design
Treatments tested in this trial
- Not listed
Trial groups
2,000 Participants
are grouped into 1 trial groupSponsors and collaborators
Children's Hospital of Fudan University
Lead sponsor
Xiamen Children's Hospital, Fujian of China
Collaborator
Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region
Collaborator
Guangzhou Women and Children's Medical Center
Collaborator
Second Affiliated Hospital of Wenzhou Medical University
Collaborator
Maternal and Child Health Hospital of Hubei Province
Collaborator
The Maternal & Children Health Hospital of Dehong, Yunnan of China
Collaborator
Source ClinicalTrials.gov