NGS in the Diagnosis of Neonatal Diseases

Shanghai Jiao Tong University

Status: Not yet enrolling

Conditions: Premature Infants; NICU Infants; Conventional NBS-positive Infants

Treatments: Genetic: NGS

Study type: Observational

Funder types: Other

Identifiers

NCT05476055

shercru-20220003-1

Details and patient eligibility

About

To investigate the application of NGS in neonatal disease screening and diagnosis, two studies was conducted (the other ID is: shercru-20220003). This study is to evaluate the application of NGS in the diagnosis of neonatal disease.

Full description

As health care has improved, genetic diseases have become the leading cause of infant death in hospitalized neonatal. However, due to extensive clinical and genetic heterogeneity, differential diagnosis of all known genetic disorders is often a challenging and lengthy process. Current clinical potential genetic diagnosis of ill baby often undergo repeated consulting, several times repeated invasive testing and/or metabolic examination, and efficiency is not high, which lead to children's and family's heavy mental pressure and economic burden.

Targeted sequencing, also known as next Generation sequence (NGS), has the advantages of fast sequencing, wide sequencing range, high sensitivity, high accuracy and low cost compared with traditional sequencing technology (Sanger sequencing). NGS has been widely used in tumor diseases, prenatal screening, drugs and the diagnosis of various genetic diseases. In prenatal screening, targeted sequencing is gradually used to detect free fetal DNA in pregnant women's peripheral blood, with an accuracy of 95%, which is much better than traditional amniocentesis karyotype analysis and improves the detection rate of secondary birth defects. Compared with traditional methods, NGS can provide diagnosis and classification, rich genetic disease gene spectrum, accurate direction for treatment, as well as the predict the risk of the next generation of children of the same disease. Therefore, targeted sequencing technology has great advantages for the diagnosis of children and prevention of newborn birth defect diseases.

To evaluate the efficacy of NGS in the screening and diagnosis of neonatal disease, the investigator lauched the "Budding Action". This study is to evaluate the application of NGS in the diagnosis of neonatal disease.

Enrollment: 1,800 estimated patients

Sex: All

Ages: 1 day to 1 year old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Subjects: conventional NBS+ infants NICU infants premature infants
• After fully understanding the program, the guardian signs the informed consent and agrees to participate in the program.

Exclusion criteria

• Other similar clinical research projects are under way for the examined neonates;
• Neonates have received transfusion of allogeneic blood products;
• Newborns whose guardians explicitly refuse to participate in the program after receiving the mission.

Trial design

1,800 participants in 6 patient groups

conventional NBS+ infants

Description:

Disease diagnosis is carried out using conventional diagnosis and treatment methods.

conventional NBS+ infants (NGS)

Description:

Disease diagnosis is carried out using conventional diagnosis and treatment methods, as well as NGS.

Treatment:

Genetic: NGS

NICU infants

Description:

Disease diagnosis is carried out using conventional diagnosis and treatment methods.

NICU infants (NGS)

Description:

Disease diagnosis is carried out using conventional diagnosis and treatment methods, as well as NGS.

Treatment:

Genetic: NGS

Premature infants

Description:

Disease diagnosis is carried out using conventional diagnosis and treatment methods.

Premature infants (NGS)

Description:

Disease diagnosis is carried out using conventional diagnosis and treatment methods, as well as NGS.

Treatment:

Genetic: NGS