Obesity and GDM are the most prominent risk factors for macrosomia, and macrosomia is associated with adverse maternal and neonate outcomes. Therefore, monitoring and controlling maternal weight and blood glucose could decrease the prevalence of macrosomia or improve its poor outcomes.

No abstract

Congenital heart disease (CHD) is one of the most common birth anomalies worldwide. Folate deficiency is an independent risk factor for CHD. Genome-wide association studies (GWAS) revealed that human folate level could be significantly influenced by fidgetin (FIGN), methylenetetrahydrofolate reductase (MTHFR), prickle homolog 2 (PRICKLE2), synaptotagmin 9 (SYT9), gamma-aminobutyric acid B receptor 2 (GABBR2), and alkaline phosphatase (ALPL) genes. The association between the above-mentioned six variants and CHD was examined in the two independent case-control studies in a total of 868 CHD patients and 931 healthy controls. Our results showed that the G > C (rs2119289) variant in intron 4 of FIGN led to a significant reduction of CHD susceptibility in both the separate and combined case-control studies (allele distribution P < 0.001, genotype distribution P < 0.001). Specifically, by analyzing the combined samples, we observed that the risks of CHD in individuals carrying the heterozygous G/C and homozygous C/C genotypes were reduced by 45% (adjusted OR 0.55, 95% CI 0.47-0.67) and 66% (adjusted OR 0.34, 95% CI 0.23-0.50), respectively, in comparison with individuals carrying the wild-type G/G genotype. Our findings have demonstrated that the C allele of variant rs2119289 of FIGN gene is an important genetic marker for decreased CHD risk. Considering that the rs2119289 of FIGN gene is related to the appropriate folate level, FIGN might play an important role in CHD by upregulating plasma folate concentration during embryo heart development. This work provides a new insight for risk assessment of CHD.

Autosomal recessive cerebellar ataxia (ARCA) is a rare neurological disorder that affects both the peripheral and central nervous systems and occurs primarily in children. [1][2][3] The incidence of ARCA has been reported to be 0-7.2 per 100,000 children. 4 Previous studies have described that patients have varied clinical manifestations, ranging from progressive cerebellar syndromes, as a key feature, to