Understanding the characteristics of the vaginal microbiota of our patients allows us to carry out both a personalized therapeutic approach and a closer follow-up in those with microbiota susceptible to dysbiosis. This trial pursues the analysis of the vaginal microbiota of premenopausal women and its fluctuations within a four-week follow-up period. Vaginal samples of 76 fertile women were taken at a baseline visit and at a final visit (day 28 ± 5). To perform a phylogenetic study, we employed massive sequencing techniques to detect the 16S rRNA gene of the vaginal microbiota. The most prevalent vaginal microbial community was type I (34.87%), dominated by Lactobacillus crispatus. Vaginal microbial community types II (Lactobacillus gasseri) and V (Lactobacillus jensenii) were underrepresented in our population. When repeating the sampling process four weeks later, 75% of our patients maintained their initial bacterial community. In the follicular phase, the most recurrent microbiota was type III (Lactobacillus iners); in the periovulatory phase, types III and IV (microbial diversity); finally, in the luteal phase, the most frequent type was IV. The most prevalent vaginal bacterial community in our population was dominated by L. crispatus. The vaginal microbiota was resistant to changes in its bacterial community in 75% of our patients, even between consecutive menstrual cycles.

The molybdenum cofactor deficiency is an autosomal recessive disease, characterized by rapidly progressive and severe neurological damage that mimics a hypoxic-ischemic encephalopathy due to the accumulation of toxic metabolites that cause rapid neurodegeneration after the delivery. It is eventually lethal, in a similar way to the rare isolated sulfite oxidase deficiency. This serious pathology usually causes death in the immediate neonatal period in the more severe variants. We report a case of two consecutive pregnancies with enlarged cisterna magna as the only prenatal pathological finding since 26 weeks of gestation (WG) and the subsequent death of the newborns in the first week after birth. After the second pregnancy, we reached the diagnosis of molybdenum cofactor deficiency due to MOCS1 gene mutation. According to the cases reported in the literature, this is the case with the earliest neuroimage prenatal findings.

Reported cases of distal 15q interstitial duplications are uncommon and do not result in a recognizable pattern of abnormalities. Some studies report prenatal overgrowth, while others describe growth retardation. We present molecular cytogenetic characterization of a 14 Mb interstitial duplication, encompassing 81 Online Mendelian Inheritance in Man (OMIM) genes, in a fetus with single umbilical artery and short limbs. We propose that growth restriction, previously described and present in our patient, may be due to duplication of a gene or genes contained in the 15q24 region.