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During pregnancy, a percentage of the cell-free DNA circulating in the maternal blood is represented by the cell-free fetal DNA (cffDNA), constituting an accessible source for noninvasive prenatal genetic screening. The coexistence of the maternal DNA, the dominant fraction of cell-free DNA, together with the cffDNA component and the scarcity of the cffDNA itself make applying traditional methods of genetics and molecular biology impossible. Next-generation sequencing methods are widely used to study fetal aneuploidies. However, in monogenic disorders, there have been relatively few studies that analyzed single mutations. We present a method for the analysis of an extended group of gene variants associated with recessive and dominant autosomal disorders using next-generation sequencing. The proposed test should allow a complete analysis of common genetic disorders and pathogen-associated variants for diagnostic use. The analysis of cffDNA for single gene disorders may replace invasive prenatal diagnosis methods, associated with the risk of spontaneous abortion and psychological stress for patients. The proposed test should assess reproductive risk for both genetic family disorders and de novo occurrences of the disease. The application of this method to a case of beta-thalassemia is also discussed.

Objective To evaluate the accuracy of ultrasound in visualizing placental cord insertion (PCI) at different gestational ages in order to recommend the most feasible period during pregnancy to identify it. Secondary aim was to propose a predictive algorithm for PCI visualization. Methods We performed a single-center, prospective cohort study. We enrolled patients with singleton low-risk pregnancies who underwent fetal ultrasound scan at different gestational ages. We excluded patients with body mass index of 30 Kg/m2 or more, uterine fibroids larger than 5 cm, high-risk pregnancies, fetal weight lower than < 10° percentile or higher than > 90° percentile, increased (“deep pocket” > 80 mm) or decreased (“deep pocket” < 20 mm) amniotic fluid. Results Among the 468 recruited patients, the visualization of PCI was not possible in 5.77% of the cases. Furthermore, we showed that PCI visualization was lower as the gestational age increased (p = 0.049) and more difficult in case of posterior placenta (p = 0.001). Conclusions PCI should be evaluated in the first trimester or as early as possible during the second trimester. Moreover, we propose a feasible model to predict the possibility of PCI visualization according to gestational age and uterine site of implantation.

In the last decades cesarean section rates increased in many countries becoming the most performed intraperitoneal surgical procedure. Despite its worldwide spread, a general consensus on the most appropriate technique to use has not yet been reached. The operative technique performed is made chiefly on the basis of the individual experience and preference of operators, the characteristics of patients, timing and urgency of intervention. We compared the two most known and used techniques, modified Misgav-Ladach and traditional Pfannenstiel-Kerr, and analyzed their impact on primary, short- and long-term outcomes and outcome related to health service use.

The gene responsible for the pathogenesis of cystic fibrosis has been known for over 15 years and represent the most common autosomal recessive disease in the european population. We aimed to investigate the incidence of this condition during fetal life.In the past 10 years we examined in our centre 25393 fetuses of women underwent to amniocentesis. We carried out the examination of the most frequent mutations which enable, according to the literature data, the identification of almost 80% of the affected alleles.We identified 922 heterozygous and 9 homozygous for the mutation. The frequency of heterozygousin the examined sample was 1/27,5 while that of the affected was 1/2821.We encourage new thoughts regarding the diagnostic validity of the most frequent panel of mutations among the italian population in order to exclude never encountered mutations and the insertion of other more significant mutations.

The "fetal urinoma" is a clinical and diagnostic entity due to urinary extravasation, early diagnosed in fetal and/or neonatal period. Both urinoma and urinary ascites, whose pathogenesis is not clear, are recognized associations of uterero-pelvic junction obstruction (UPJO) and neonatal posterior urethral valves (PUV) related with a protected fetal and neonatal renal function. Clinical and experimental studies have demonstrated that fetal urinary tract obstruction results in severe renal parenchymal injury. The so called "pop-off" valve mechanism has been advocated to justify the upper tract function preservation. Protective "pop-off" mechanisms, such as a unilateral reflux and dysplasia, urinary extravasation and congenital bladder diverticula are present in about 30% of patients with PUV. Their presence correlates with better overall long-term renal function. This mechanism has been justified as a sort of self derivation, to explain the renal function preservation in fetal and neonatal period. In the last two years we observed three cases of fetal monolateral urinoma, prenatally detected in fetuses with diagnosis of PUV. All three cases did well for that concerning renal function despite some current opinions suggesting the necessity of a bilateral urinary extravasation in order to preserve upper urinary tract function.