Analysis of characteristic features in ultrasound diagnosis of fetal limb body wall complex during 11-13+6 weeks

BACKGROUND Limb body wall complex(LBWC)is a fatal malformation characterized by major defects in the fetal abdominal or thoracic wall,visceral herniation,significant scoliosis or spina bifida,limb deformities,craniofacial deformities,and umbilical cord abnormalities(short or absent umbilical cord).Early diagnosis of this condition is of great clinical significance for clinical intervention and pregnancy decision-making.With the rapid development of fetal ultrasound medicine,early pregnancy(11-13+6 wk)standardized prenatal ultrasound examinations have been widely promoted and applied.AIM To explore the value of prenatal ultrasound in the diagnosis of fetal LBWC syndrome during early pregnancy.METHODS The ultrasonographic data and follow-up results of 18 cases of fetal LBWC diagnosed by prenatal ultrasound during early pregnancy(11-13+6 wk)were retrospectively analyzed,and their ultrasonographic characteristics were analyzed.RESULTS Among the 18 fetuses with limb wall abnormalities,there were spinal dysplasia(18/18,100%),varying degrees of thoracoschisis and gastroschisis(18/18,100%),limb dysplasia in 6 cases(6/18,33%),craniocerebral malformations in 4 cases(4/18,22%),thickening of the transparent layer of the neck in 5 cases(5/18,28%),and umbilical cord abnormalities in 18 cases(18/18,100%),single umbilical artery in 5 cases.CONCLUSION Prenatal ultrasound in early pregnancy can detect LBWC as early as possible,and correct prenatal evaluation provides important guidance value for pregnancy decision-making and early intervention.

Differential gene expression in the body wall of the sea cucumber(Apostichopus japonicus)under strong lighting and dark conditions

Sea cucumber, Apostichopus japonicus is very sensitive to light changes. It is important to study the influence of light on the molecular response of A. japonicus. In this study, RNA-seq provided a general overview of the gene expression profiles of the body walls of A. japonicus exposed to strong light（＂light＂）, normal light（＂control＂） and fully dark（＂dark＂） environment. In the comparisons of ＂control＂ vs. ＂dark＂, ＂control＂ vs. ＂light＂ and ＂dark＂ vs.＂light＂, 1 161, 113 and 1 705 differentially expressed genes（DEGs） were identified following the criteria of｜log2 ratio｜≥1 and FDR≤0.001, respectively. Gene ontology analysis showed that ＂cellular process＂ and ＂binding＂enriched the most DEGs in the category of ＂biological process＂ and ＂molecular function＂, while ＂cell＂ and ＂cell part＂ enriched the most DEGs in the category of ＂cellular component＂. And the DEGs were mapped to 214, 41 and229 pathways in the Kyoto Encyclopedia of Genes and Genomes database, and 51, 2 and 57 pathways were significantly enriched, respectively. Light-specific DEGs identified in this study will be important targets for further investigation to establish the biochemical mechanisms involved in the adaption of this sea cucumber to changes in the level of environmental light.