RÉSUMÉ
With the recent development of next-generation sequencing technology, the microbiome in the body is being revealed in detail. It is also possible to describe the normal vaginal microenvironment and, more specifically, any changes in pregnancy. Moreover, we present the hypothesis that the microbiome is a contributing factor to preterm birth (PTB).Current Concepts: High estrogen status stimulates the maturation and proliferation of vaginal epithelial cells and the accumulation of glycogen, which promotes lactic acid production and maintains the vaginal environment at an acidic pH. The vaginas of most premenopausal women are predominantly colonized by Lactobacillus which plays an important role in local defense. Recently, it has also been reported that there are several specific types of Lactobacillus species, while other anaerobes, including Gardnerella and Atopobium also coexist in the vagina. Vaginal dysbiosis is defined as various expressions of microorganisms, secretion of specific metabolites, and changes in pH. During pregnancy, a multitude of microbiome changes occur in the oral cavity, gut, vagina, and placenta. The risk of PTB increases if the microbiome changes to one of dysbiosis. It is possible to analyze the characteristic microbiome composition related to PTB and to develop biomarkers predicting PTB. It is necessary to educate patients based on these findings.Discussion and Conclusion: Microbiome analysis has contributed significantly to understanding the association between women’s vaginal health and PTB. Continued research will also contribute to public health by assisting in the prediction and prevention of PTB.
RÉSUMÉ
Syndrome of 4q deletion is characterized by an abnormal shape of the skull, craniofacial dysmorphism, cardiovascular malformations, genitourinary defects, limb and digital anomalies, and developmental delay. We experienced a case of 4q interstitial deletion in a 2 day-old female neonate who showed short extremities, partial agenesis of corpus callosum and congenital heart defects. We report the case with a brief review of the literature.