Integrated profiling of metabolites and trace elements reveals a multifaceted malnutrition in pregnant women from a region with a high prevalence of congenital malformations

Considerable evidence from epidemiological and clinical studies demonstrated that maternal nutritional status is closely associated with placental, embryonic, fetal growth and development, and ultimately pregnancy outcomes. In recent years, there has been a growing interest in the study of disorders of pregnancy using a metabolomic profiling approach. In this study, we presented an integrated comprehensive profiling approach to assess maternal nutritional status through measuring a wide variety of small-molecule metabolites and trace elements in serum of pregnant women. A total of 56 pregnant women with normal pregnancy outcomes were enrolled from Lvliang prefecture of Shanxi province, the area with the highest prevalence of congenital anomalies in China, and 40 pregnant women with normal pregnancies were recruited from Huairou county of Beijing city, the region representing a national average level. As compared with the national average level, these pregnant women from Lvliang region shown distinct metabolic phenotypic variations as revealed by the depleted serum concentrations of folate and vitamin B₁₂, lower concentrations of carbohydrates, lipids, Se, Zn, and Cu, as well as higher concentrations of amino acids, urea-cycle metabolites, Sr, Cd, and Pb. Our results offer an improved understanding of severe multifaceted malnutrition in the pregnant women from a population with a high prevalence of congenital anomalies, highlighting the potential of a panel of critical nutrients as markers for aiding the diagnosis, prevention, and intervention of pregnancy complications.