RecruitingNCT02551081

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

Sponsor

Children's Hospital of Fudan University

Enrollment

2,000 participants

Start Date

Oct 1, 2015

Study Type

OBSERVATIONAL

Conditions

Genetic Disease Multiple Malformation Congenital Malformation

Summary

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

Max Age: 28 Days

Inclusion Criteria6

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

Exclusion Criteria5

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

Print for Your Doctor

Interested in this trial?

Get notified about updates and connect with the research team.