Screening and Predictive Biomarkers for Down Syndrome Through Amniotic Fluid Metabolomics.

Background: Down syndrome (DS) is a congenital disorder caused by the presence of an extra copy of all or part of chromosome 21. It is characterized by significant intellectual disability, distinct facial features, and growth and developmental challenges. The utilization of metabolomics to analyze specific metabolic markers in maternal amniotic fluid may provide innovative tools and screening methods for investigating the early pathophysiology of trisomy 21 at the functional level.

Identification of Six Novel Variants of in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing.

Isobutyryl-CoA dehydrogenase deficiency (IBDHD, MIM: #611283) is a rare autosomal recessive hereditary disease, which is caused by genetic mutations of acyl-CoA dehydrogenase (ACAD) 8 and associated with valine catabolism. Here, tandem mass spectrometry (MS/MS) was applied to screen 302,993 neonates for inherited metabolic diseases (IMD) in Ningbo of China from 2017 to 2020. The results suggest that 198 newborns (0.

[Heredity analysis of main characters of nitrogen use efficiency in maize.].

With P1, P2, F1, F2, B1 and B2 generations of two combinations of maize with high nitrogen use efficiency, hereditary capacity and genetic progress of seventeen characters were studied. The random block design was used in the experiment. The results showed that the heritability of each traits was different at different N levels.