Purpose The human aorta stores strain energy in the distended wall during systole through the extracellular matrix of the tunica media that could be influenced by blood pressure, flow, or increased peripheral resistance. In intrauterine growth restriction (IUGR) fetuses, the increased aorta intima media thickness (aIMT) could reflect a different extracellular matrix composition and, therefore, functionality. The aim of this study was to analyze the resistance to flow in the fetal descending aorta and its relation to aIMT and systolic and diastolic fetal abdominal aorta diameters in IUGR fetuses and controls. Materials and Methods This is a prospective case control study of single pregnancies collected at a tertiary center for feto-maternal medicine in Northeast Italy. An IUGR group as cases and a group of fetuses appropriate for gestational age (AGA) as controls were included. Results We found a greater PI of the fetal abdominal aorta in the IUGR group (1.82) than in the AGA group (1.21) (p < 0.05). The change between the systolic and diastolic fetal abdominal aorta diameters was significantly greater in IUGR fetuses (0.10 mm (IQR 0.07 – 0.28)) than in the AGA group (0.04 mm (0.03 – 0.05)) (p < 0.05). In the IUGR group aIMT was significantly correlated with peak systolic velocity (PSV) and systolic-diastolic aorta diameter change, while these two correlations were not found in the control group. Conclusion The change between the systolic and diastolic fetal abdominal aorta diameters in IUGR cases during the early third trimester of pregnancy was significantly increased and aIMT in the IUGR group was significantly correlated to systolic-diastolic diameter change and PSV, probably reflecting aortic wall adaptation to blood flow changes in IUGR fetuses.

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The "omics" technologies represent a new model of approach in the study of human disease. Metabolomics is defi ned as the quantitative measurement of the dynamic metabolic response of living systems to genetic, physical, pathological or developmental factors. Proteomics analysis of biological samples has the potential to identify novel protein expression patterns and/or changes in protein expression patterns in different developmental or disease states. In this manuscript we present the omics technologies applicated in obstetrics. The management of different pregnancy diseases could be improved by knowing their metabolic background. In this review we focused our attention on omics application for intrauterine growth restriction (IUGR), preterm birth and preeclampsia. Omics in IUGR fi eld could help to discover novel biomarkers for early diagnosis, the molecular link between nutrient deprivation in utero and the increase in risk of developing cardiovascular illness and metabolic syndrome in adults. It could identify one or more therapeutic targets that allow to minimize the organ damage. Recently, the use of metabolomics permitted to discover signifi cant differences in 70 proteins within the trophoblastic cells of women with pre-eclampsia when compared with healthy control women. Recently were identifi ed proteins in cervical-vaginal fl uid that could be useful to predict preterm labor in asymptomatic women: thioredoxin and interleukin-1 receptor antagonist. In conclusion, this approach can lead to new hypothesis-based medicine and provide a ''shortcut'' to obtain new biological insight.

Skeletal dysplasias (SDs) are a group of disorders that affect the development of bone/connective tissue. Determining a specific diagnosis when a SD is suspected by ultrasound is challenging due to the wide phenotypic spectrum and overlapping features. Genetic counseling and perinatal decision-making, however, may differ when a specific diagnosis is established. Non-invasive prenatal screening for single-gene disorders (NIPT-SGD) screens for mutations in 30 genes by analysis of cell-free DNA from maternal plasma and maternal/paternal genomic DNA using next-generation sequencing.Here we demonstrate the utility of NIPT-SGD in screening for SD cases and in narrowing the differential diagnosis by ultrasound.Case 1: A 26-year-old G3P2 was referred at 19 weeks for an anatomy ultrasound; long bone lengths were below the 5 th percentile and achondrogenesis type 2 was suspected. The father of the baby was identified as a carrier for hypophosphatasia, severe forms of which are inherited in an autosomal recessive manner and is interpreted as a severe SD in utero. The patient received a negative carrier screening test result for hypophosphatasia. NIPT-SGD identified a likely pathogenic mutation in COL1A2, consistent with osteogenesis imperfecta (OI), which was confirmed by amniocentesis.Case 2: A 22-year-old G1 was referred for ultrasound at 29 weeks due to long bone shortening; long bone lengths were below the 3 rd percentile. The findings were interpreted as consistent with achondroplasia with ''no findings to suggest a lethal form of dwarfism''. NIPT-SGD identified a pathogenic mutation in COL1A2 consistent with OI. The baby was delivered by Caesarean section and a femoral fracture was noted at birth.In both these cases, the ''leading'' diagnosis based on ultrasound findings was discordant from results of NIPT-SGD. NIPT-SGD provides a non-invasive method of refining the diagnosis when a SD is suspected by ultrasound. EP04.04Trisomy 13 with normal combined first trimester screening and normal NIPT: a rare case of true fetal mosaicism

Methods: Within our cohort of CCMV confirmed by positive amniotic fluid PCR, we excluded cases of severe encephalic anomalies diagnosed by ultrasound during mid-trimester follow-up. A MRI was systematically performed at 30-34 weeks in the remaining cases. White matter hyperintense T2 signal (WMHS) was defined as a signal ratio of temporal areas over basa ganglia and was considered abnormal when >1.4. Adverse pediatric outcomes included bilateral neurosensory hearing loss (NSHL) and neurological impairment. Over the last 5 years, fetal therapy by valacyclovir was systematically offered in moderately symptomatic fetuses. Results: An MRI was performed in 57 cases with a reassuring mid-trimester assessment, as part of final prognostic assessment: 33 cases were asymptomatic; 20 presented extracranial moderate symptoms such as hyperechoic bowel, IUGR, hepatosplenomegaly; 4 presented moderate intracranial anomalies such as posterior intraventricular adhesion or leucostriate vasculopathy. MRI confirmed ultrasound findings (normal or moderate anomalies) in all but one case. However, WMHS was found in 6/33 (18%) asymptomatic cases and was significantly associated with NSHL (3/6 vs. 0/27, P=0.004). In fetuses with extracranial anomalies, WMHS was found in 7/20 (35%) and was also associated with an adverse outcome (3/7 vs. 1/20, P=0.04). 3/4 fetuses with moderate intracranial anomalies prior to MRI showed WMHS, one of which suffered severe neurological impairment. Conclusions: WMHS is independently associated with an adverse outcome following a reassuring mid-trimester assessment for CCMV. In asymptomatic fetuses, such a finding would suggest a 50% risk of NSHL, whereas its absence strongly suggests a favourable outcome. Patients were referred to our unit due to seroconversion at the first or second trimester with or without suspected sonographic finding and turned out to be either positive for CMV by amniocentesis or in urine neonatal samples.The patients underwent repeated ultrasonographic and neurosongraphic examinations in the search of findings related to CMV infection. Patients with a positive ultrasonographic finding were examined by two different senior physicians and underwent MRI evaluation.Follow up of the delivered children was obtained from patient's files and from parents' interviews. All the children underwent neurological evaluation and BERA examinations. Results: We have found 21 fetuses with caudate nuclei, in seven the finding was isolated. Fourteen fetuses were with associated findings such as periventricular hyper echogenicity, LSV, periventricular or cerebral cysts and calcifications. These 14 patients elected to terminate the pregnancy.The seven children with the isolated echogenic caudate had a negative BERA and normal neurological evaluation with a follow-up to the age of three. Conclusions: Our results indicate that the presence of an echogenic caudate in CMV infected fetuses is relatively common and seems to be associated with a good neurological outcome. Objectives: Cytomegalovirus (CMV) has an e...