NGS in the Diagnosis of Neonatal Diseases

The Application of Targeted Sequencing in the Diagnosis of Neonatal Diseases

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.

Study Overview

• Status: Not yet recruiting
• Conditions: Premature Infants; NICU Infants; Conventional NBS-positive Infants
• Intervention / Treatment: Genetic: NGS

Detailed 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.

• Study Type: Observational
• Enrollment (Anticipated): 1800

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 day to 1 year (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

In the cohort of conventional NBS+/ NICU/ premature infants, the corresponding targeted population was included in the study and analysis.

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

6

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
conventional NBS+ infants; Disease diagnosis is carried out using conventional diagnosis and treatment methods.
conventional NBS+ infants (NGS); Disease diagnosis is carried out using conventional diagnosis and treatment methods, as well as NGS.	Genetic: NGS; In the conbentional NBS+/NICU/premature infants, NGS was conducted to investigate whether NGS can accelerate diagnosis and improve prognosis in these children
NICU infants; Disease diagnosis is carried out using conventional diagnosis and treatment methods.
NICU infants (NGS); Disease diagnosis is carried out using conventional diagnosis and treatment methods, as well as NGS.	Genetic: NGS; In the conbentional NBS+/NICU/premature infants, NGS was conducted to investigate whether NGS can accelerate diagnosis and improve prognosis in these children
Premature infants; Disease diagnosis is carried out using conventional diagnosis and treatment methods.
Premature infants (NGS); Disease diagnosis is carried out using conventional diagnosis and treatment methods, as well as NGS.	Genetic: NGS; In the conbentional NBS+/NICU/premature infants, NGS was conducted to investigate whether NGS can accelerate diagnosis and improve prognosis in these children

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Diagnostic time	In each cohort, NGS was conducted to investigate whether NGS can shorten the diagnostic time.	up to 6 months
Prognosis (mortality)	In each cohort, NGS was conducted to investigate whether NGS can reduce the mortality of children.	up to 1 year

Collaborators and Investigators

• Sponsor: Shanghai Children's Hospital
• Collaborators: Children's Hospital affiliated to Chongqing Medical University; Xuzhou maternal and Child Health Care Hospital

Study record dates

Study Major Dates

• Study Start (Anticipated): August 1, 2022
• Primary Completion (Anticipated): August 1, 2024
• Study Completion (Anticipated): December 1, 2024

Study Registration Dates

• First Submitted: July 25, 2022
• First Submitted That Met QC Criteria: July 26, 2022
• First Posted (Actual): July 27, 2022

Study Record Updates

• Last Update Posted (Actual): July 27, 2022
• Last Update Submitted That Met QC Criteria: July 26, 2022
• Last Verified: July 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Infant, Newborn, Diseases
• Other Study ID Numbers: shercru-20220003-1

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Undecided

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No