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Application of tandem mass spectrometry in early screening of neonatal G6PD deficiency: a retrospective case analysis

Application of tandem mass spectrometry in early screening of neonatal G6PD deficiency: a retrospective case analysis

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2600118368
Enrollment
Unknown
Registered
2026-02-04
Start date
2026-02-06
Completion date
Unknown
Last updated
2026-02-09

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

G6PD deficiency may lead to severe hyperbilirubinemia, and even result in bilirubin encephalopathy, which can cause neurological sequelae in newborns and even death.

Interventions

Study group: All neonates diagnosed with G6PD deficiency by G6PD enzyme testing.:None
Control group: All newborns with normal G6PD enzyme levels.:None

Sponsors

Yuebei People’s Hospital
Lead Sponsor

Eligibility

Sex/Gender
All
Age
No minimum to 1 Years

Inclusion criteria

Inclusion criteria: 1. Newborns born in the Department of Obstetrics at Yuebei People's Hospital with an age of <= 28 days; 2. Simultaneous G6PD enzymatic testing and tandem mass spectrometry-based genetic metabolic disease screening were conducted; 3. Complete and traceable clinical baseline information and two test results were available; 4. Both parents were in good health with no history of severe acute/chronic diseases or confirmed genetic disorders.

Exclusion criteria

Exclusion criteria: 1. Patients with severe lack of clinical data, rendering propensity score calculations impossible; 2. Individuals with severe congenital malformations, biliary atresia; other known inherited metabolic disorders or any critical illnesses that may significantly impact metabolic profiles; history of birth asphyxia; ischemic-hypoxic encephalopathy, cerebral hemorrhage, or critical infections; 3. Mothers with major metabolic diseases or a history of specific drug exposure during pregnancy that may interfere with neonatal metabolic homeostasis.

Design outcomes

Primary

MeasureTime frame
Amino acid profile, acylcarnitine profile;

Countries

China

Contacts

Public ContactJianwu Qiu

Yuebei People’s Hospital

qiujianwu@yeah.net+86 158 7510 7868

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 15, 2026