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Objective <p>Glucose-6-phosphate dehydrogenase (<i>G6PD</i>) deficiency is primarily characterized by neonatal jaundice and acute/chronic hemolytic anemia. This study aimed to examine the influence of different <i>G6PD</i> genotypes on pregnancy and neonatal outcomes.</p> Methods <p>Between 2020 and 2021, a total of 225 male neonates identified as carriers of <i>G6PD</i> variants through neonatal screening and 121 male healthy controls were included. Blood samples from neonates with initially positive G6PD enzyme activity and their mothers were analyzed for common <i>G6PD</i> variants using the melting-curve assay. Statistical analyses were performed to assess enzyme activity, genetic variants, and maternal–fetal clinical phenotypes.</p> Results <p>Ten variant sites were identified, with c.1376G &gt; T (47.11%), c.1388G &gt; A (26.67%), c.95&#xa0;A &gt; G (6.22%) and 1024&#xa0;C &gt; T (6.22%) exhibiting the highest frequencies. Significant statistical differences were observed between variant carriers and controls in G6PD enzyme activity, gestational age at birth, preterm birth rate, and incidence of jaundice (<i>p</i> &lt; 0.01). Among neonates, enzyme activity was significantly correlated with the incidence of jaundice (<i>p</i> &lt; 0.01). <i>G6PD</i> gene variant was identified as a risk factor for preterm birth (OR = 13.01, <i>p</i> = 0.013). Pregnant women with comorbid cholestasis (OR = 10.114, <i>p</i> = 0.014) or cytopenia (OR = 3.186, <i>p</i> = 0.046) demonstrated an increased risk of preterm birth. Furthermore, pregnant women carrying <i>G6PD</i> gene variants comorbid with gestational diabetes mellitus had an increased risk of abortion (OR = 2.634, <i>p</i> = 0.02).</p> Conclusion <p>Adverse pregnancy outcomes are the result of the combined effects of multiple factors, and <i>G6PD</i> gene variants when mixed with maternal diseases, may increase the risk of preterm birth and abortion. In regions with elevated carrier prevalence, preconception and prenatal testing of G6PD enzyme activity, alongside carrier screening, may enhance maternal and neonatal health management.</p>

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Association between G6PD gene variants and adverse pregnancy outcomes

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年2月7日

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  • Danhua Guo,
  • Nani Zhou,
  • Jinfu Zhou,
  • Na Lin,
  • Shuqiong He,
  • Yifang Dai,
  • Hailong Huang,
  • Jia Jia,
  • Liangpu Xu

摘要

Objective

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is primarily characterized by neonatal jaundice and acute/chronic hemolytic anemia. This study aimed to examine the influence of different G6PD genotypes on pregnancy and neonatal outcomes.

Methods

Between 2020 and 2021, a total of 225 male neonates identified as carriers of G6PD variants through neonatal screening and 121 male healthy controls were included. Blood samples from neonates with initially positive G6PD enzyme activity and their mothers were analyzed for common G6PD variants using the melting-curve assay. Statistical analyses were performed to assess enzyme activity, genetic variants, and maternal–fetal clinical phenotypes.

Results

Ten variant sites were identified, with c.1376G > T (47.11%), c.1388G > A (26.67%), c.95 A > G (6.22%) and 1024 C > T (6.22%) exhibiting the highest frequencies. Significant statistical differences were observed between variant carriers and controls in G6PD enzyme activity, gestational age at birth, preterm birth rate, and incidence of jaundice (p < 0.01). Among neonates, enzyme activity was significantly correlated with the incidence of jaundice (p < 0.01). G6PD gene variant was identified as a risk factor for preterm birth (OR = 13.01, p = 0.013). Pregnant women with comorbid cholestasis (OR = 10.114, p = 0.014) or cytopenia (OR = 3.186, p = 0.046) demonstrated an increased risk of preterm birth. Furthermore, pregnant women carrying G6PD gene variants comorbid with gestational diabetes mellitus had an increased risk of abortion (OR = 2.634, p = 0.02).

Conclusion

Adverse pregnancy outcomes are the result of the combined effects of multiple factors, and G6PD gene variants when mixed with maternal diseases, may increase the risk of preterm birth and abortion. In regions with elevated carrier prevalence, preconception and prenatal testing of G6PD enzyme activity, alongside carrier screening, may enhance maternal and neonatal health management.