Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units

Recruiting now

Conditions studied: Genetic Disease, Multiple Malformation, Congenital Malformation

In brief

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.

Key facts

Study ID

NCT02551081

Run by

Children's Hospital of Fudan University

People needed

2000

Starts

2015-10-01

Expected to finish

2025-12-30

Last updated by the study team

2025-09-05

Who can join

Age: any, up to 0. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• One of the following criteria required.
• 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
• Abnormal response to standard therapy for a major underlying condition

You may not qualify if…

• 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
• Parents refuse consent

Where it is running

• Children Hospital of Fudan University — Shanghai, Shanghai Municipality, China (enrolling)

Full record on ClinicalTrials.gov

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