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[Screening results and genetic features of glucose-6-phosphate dehydrogenase deficiency in 54 025 preterm infants in
Zhou Jiang1, Mei Wang1, Li Tang
1Department of Neonatal Screening, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 611731, China.
Insights
Screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency in preterm infants is crucial, with higher incidence rates observed compared to full-term infants. Genetic testing improves diagnosis in female infants, and specific mutations like c.1024C>T are associated with milder conditions.
Area of Science:
- Medical Genetics
- Neonatology
- Public Health
Background:
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic disorder.
- Preterm infants may have unique risk factors and presentation of G6PD deficiency.
- Accurate screening and diagnosis are vital for preventing hemolytic complications.
Purpose of the Study:
- To analyze G6PD deficiency screening results and gene mutation distribution in preterm infants in Chengdu, China.
- To provide data for improving G6PD screening protocols for preterm neonates.
- To identify factors influencing screening accuracy and diagnostic yield.
Main Methods:
- A fluorescent spot test was used for G6PD screening in 54,025 preterm infants.
- G6PD enzymology and gene detection were performed for diagnostic confirmation in 213 infants.
- Statistical analysis was employed to determine incidence rates, influencing factors, and mutation frequencies.
Main Results:
- The incidence of G6PD deficiency in preterm infants was 3.55‰, higher than in full-term infants and increasing annually.
- Factors like summer birth, gestational age <32 weeks, and birth weight <2,500g increased false positive screening rates.
- Nine gene mutations were identified, with c.1388G>A, c.1376G>T, and c.1024C>T being the most prevalent, and c.1024C>T associated with milder phenotypes.
Conclusions:
- G6PD deficiency screening in preterm infants requires careful attention and improved methods.
- Cold-chain sample transport in summer is recommended to reduce false positives.
- Genetic testing is crucial for accurate diagnosis in female infants, and specific mutations indicate varying disease severity.
Objective:
To analyze the screening results of glucose-6-phosphate dehydrogenase (G6PD) deficiency and gene mutation distribution of G6PD deficiency in preterm infants in Chengdu, China, in order to provide a basis for the improvement of G6PD screening process in preterm infants.
Methods:
Fluorescent spot test for G6PD deficiency using dried blood spots was used for G6PD screening of 54 025 preterm infants born from January 1, 2015 to December 31, 2019 in Chengdu, and G6PD enzymology and gene detection were used for the diagnosis of 213 infants with positive screening results.
Results:
Among the 54 025 preterm infants, 192 were diagnosed with G6PD deficiency, with an incidence rate of 3.55‰. The incidence rate of G6PD deficiency in preterm infants was higher than that in full-term infants in the same period of time and tended to increase year by year. Birth in summer, gestational age <32 weeks, and birth weight <2 500 g were influencing factors for the increase in false positive rate of screening (P < 0.05). The diagnostic accordance rate of genetic tests was significantly higher than that of enzyme activity assay in female infants (P < 0.05). Nine gene mutations were detected in Chengdu, without compound heterozygous mutation. Homozygous mutation was not detected in female infants. In the 80 infants with gene mutations, the top three gene mutations were c.1388G>A in 26 infants (32%), c.1376G>T in 21 infants (26%), and c.1024C>T in 13 infants (16%), accounting for 75%. There was a significant difference in pathogenicity grading among the three gene mutations (P < 0.001). The pairwise comparison showed that c.1024C>T had a significantly lower pathogenicity grade than c.1376G>T and c.1388G>A (P < 0.0167), suggesting that c.1376G>T and c.1388G>A had greater influence on enzyme activity than c.1024C>T.
Conclusions:
Screening for G6PD deficiency in preterm infants should be taken seriously. It is recommended to apply cold-chain transportation of samples in summer to reduce the false positive rate of primary screening for G6PD deficiency. Genetic tests should be promoted in girls with positive screening results to improve the detection rate of G6PD deficiency in preterm female infants. There are various types of gene mutations in preterm infants with G6PD deficiency in Chengdu, and infants with c.1024C>T mutation tend to have mild conditions.
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