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Periconception Red Blood Cell Folate and Offspring Congenital Heart Disease : Nested Case-Control and Mendelian

Hongyan Chen1, Yi Zhang1, Dingmei Wang2

  • 1Department of Clinical Epidemiology and Clinical Trial Unit, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, and Shanghai Key Laboratory of Birth Defects, Shanghai, China (H.C., Y.Z., X.C., Y.J., Y.D., Y.W.).

Annals of Internal Medicine
|August 22, 2022
PubMed

Insights

Higher maternal red blood cell (RBC) folate levels are linked to a lower risk of congenital heart disease (CHD) in offspring. This suggests potentially higher RBC folate targets may be beneficial for primary CHD prevention.

Area of Science:

  • Maternal and Child Health
  • Nutritional Epidemiology
  • Cardiovascular Genetics

Background:

  • Folic acid supplementation is theorized to reduce congenital heart disease (CHD) risk.
  • The association between maternal red blood cell (RBC) folate, a key biomarker for folate status, and offspring CHD risk requires further quantification.

Purpose of the Study:

  • To determine the quantitative association between periconception maternal RBC folate levels and the risk of CHD in offspring.
  • To investigate the potential role of RBC folate in primary prevention strategies for CHD.

Main Methods:

  • A prospective, nested case-control study was conducted within the Shanghai Preconception Cohort.
  • Maternal RBC folate concentrations were measured periconception or in early pregnancy.
  • Conditional logistic regression and Mendelian randomization using the *MTHFR* C677T polymorphism were employed to analyze the association.

Main Results:

  • Mothers of offspring with CHD had significantly lower median maternal RBC folate concentrations compared to controls.
  • Maternal RBC folate concentrations showed an inverse association with offspring CHD risk (adjusted OR per 100 nmol/L: 0.93; 95% CI, 0.89 to 0.99).
  • Higher periconception RBC folate levels (≥906 nmol/L) were associated with a 39% reduced risk of offspring CHD (adjusted OR: 0.61; CI, 0.40 to 0.93).
  • Mendelian randomization analysis indicated that each 100-nmol/L increase in maternal RBC folate was significantly associated with reduced offspring CHD risk (OR: 0.75; CI, 0.61 to 0.92).

Conclusions:

  • Elevated maternal RBC folate levels are associated with a decreased risk of congenital heart disease in offspring.
  • Current recommendations for folic acid intake may need re-evaluation, potentially requiring higher target RBC folate levels for optimal primary prevention of CHD.
  • Further research is warranted to confirm these findings and establish optimal periconception RBC folate targets for CHD prevention.
Abstract

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