Related Experiment Video

Updated: May 14, 2026

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes
03:19

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes

Published on: June 28, 2024

Lowered Maternal and Paternal Plasma Concentrations of Choline Are Associated with the Severity of Congenital Heart

Rima Obeid1, Annabelle Wagner2,3, Celina Löhfelm1

  • 1Department of Clinical Chemistry and Laboratory Medicine, Saarland University Hospital, Kirrberg Street, Building 57, D-66421 Homburg, Germany.

Nutrients
|May 13, 2026
PubMed

Insights

Lower plasma choline in parents is linked to severe congenital heart defects (CHDs) in children. Parental choline metabolism may influence CHD severity, highlighting the importance of preconception and early pregnancy risk factors.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Congenital heart defects (CHDs) are linked to disruptions in one-carbon metabolism.
  • Investigating nutrient associations with CHD severity is crucial for understanding etiology.

Purpose of the Study:

  • To examine the association between plasma concentrations of choline, betaine, and folate and the severity of congenital heart defects (CHDs).
  • To utilize a family-based trio design for comprehensive analysis.

Main Methods:

  • Included 72 children with CHD and their parents (69 mothers, 64 fathers).
  • Classified CHD severity using the EUROCAT and German PAN study criteria.
  • Quantified plasma and urine concentrations of choline, betaine, and folates in a subgroup of participants.

Main Results:

  • Lower plasma choline concentrations (< 10 µmol/L) in mothers were associated with severe CHD (aOR 3.7; 95% CI 1.1–12.2).
  • Lower plasma choline concentrations in fathers were also associated with severe CHD (aOR 7.4; 95% CI 1.7–31.5).
  • No significant associations were found between children's nutrient levels or parents' betaine/folate levels and CHD severity.

Conclusions:

  • Parental plasma choline levels, detectable years post-conception, correlate with CHD severity in offspring.
  • Maternal and paternal choline metabolism may play a role in modulating CHD severity.
  • Future etiological studies should prioritize maternal and paternal risk factors during preconception and early pregnancy.
Abstract

Keywords:
betainechildrencholinecongenital heart defectsfolate

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