Metabolomic Investigation of β-Thalassemia in Chorionic Villi Samples

Beta-thalassemias are blood disorders characterized by poorly understood clinical phenotypes ranging from asymptomatic to severe anemia. Metabolic composition of the human placenta could be affected by the presence of pathological states such as β-thalassemia. The aim of our study was to describe metabolic changes in chorionic villi samples of fetuses affected by β-thalassemia compared to a control group by applying a metabolomics approach

Prenatal Diagnosis and Management of Fetal Goiter Treated Successfully with Intra-Amniotic Levothyroxine

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Metabolic fingerprinting of chorionic villous samples in normal pregnancy and chromosomal disorders

Placenta-related biological samples are used in biomedical research to investigate placental development. Metabolomics represents a promising approach for studying placental metabolism in an effort to explain physiological and pathological mechanisms. The aim of this study was to investigate metabolic changes in chorionic villi during the first trimester of pregnancy in euploid and aneuploid cases

past present and future ultrasonographic techniques for analyzing ovarian masses

Ultrasonography is today the method of choice for distinguishing between benign and malignant adnexal pathologies. Using pattern recognition several types of tumors can be recognized according to their characteristic appearance on gray-scale imaging. Color Doppler imaging should be used only to perform a semiquantitative color score or evaluate the flow location. International Ovarian Tumor Analysis group had standardized definitions characterizing adnexal masses and suggested the use of 'simple rules' in premenopausal women. Recently, the use of 3D vascular indices has been proposed but its potential use in clinical practice is debated. Also computerized aided diagnosis algorithms showed encouraging results to be confirmed in the future

From Prenatal to Preimplantation Genetic Diagnosis of β-Thalassemia. Prevention Model in 8748 Cases: 40 Years of Single Center Experience

The incidence of β-thalassemia in Sardinia is high and β-39 is the most common mutation. The prevention campaign started in 1977 and was performed in a single center (Microcitemico Hospital, Cagliari, Sardinia, Italy). It was based on educational programs, population screening by hematological and molecular identification of the carriers. Prenatal and pre-implantation diagnosis was offered to couples at risk. 8564 fetal diagnosis procedures using different invasive approaches and analysis techniques were performed in the last 40 years. Trans-abdominal chorionic villous sampling was preferred due to lower complication risks and early diagnosis. Chorionic villous DNA was analyzed by PCR technique. 2138 fetuses affected by β-thalassemia were diagnosed. Women opted for termination of the pregnancy (TOP) in 98.2% of these cases. Pre-implantation genetic diagnosis (PGD) was proposed to couples at risk to avoid TOP. A total of 184 PGD were performed. Initially, the procedure was exclusively offered to infertile couples, according to the law in force. The success rate of pregnancies increased from 11.1% to 30.8% when, crucial law changes were enacted, and PGD was offered to fertile women as well. Forty years of β-thalassemia prevention programs in Sardinia have demonstrated the important decrease of this severe genetic disorder

The ovarian endometrioma: clinical setting and ultrasound findings

Ovarian endometrioma is defined as a pseudocyst arising from gorwth of ectopic endometrial tissue. The typical features of endometriomas are diffuse low-level internal echoes ("ground glass") in the absence of particular neoplastic features and with a clear demarcation from ovarian parenchyma. Several studies report very high values of specificity with values of sensitivity usually ranging from 87 to 77%

Metabolic characterization of amniotic fluids of fetuses with enlarged nuchal translucency

In prenatal diagnosis, a thickened nuchal translucency (NT) is one of the most sensitive and specific markers for several defects but it may also be found in 5% of healthy fetuses. The pathophysiological causes that lead to an increase in NT are not yet fully understood. Metabolomics represents a new promising approach, useful for studying different metabolites in biological organisms in response to environmental stressors. The aim of our study was to investigate the metabolomic profile of the amniotic fluid samples (AFS) of euploid fetuses with enlarged nuchal translucency (ENT) compared to a control group (C group). This study was carried out on a group of women who underwent second-trimester amniocentesis for advanced maternal age (C group) or for NT ≥95 th percentile (ENT group) found during first-trimester aneuploidy screening. AFS were analyzed with proton nuclear magnetic resonance ( 1 H-NMR) and high-performance liquid chromatography (HPLC), and subsequent multivariate and univariate statistical analyses were conducted, followed by pathway analysis. In total, 67 AFS from the C group and 23 from the ENT group were analyzed. Partial least square discriminate analysis was carried out (R 2 X=0.784, R 2 Y=0.658, Q 2 =0.622, P<0.0001). A different metabolic profile was observed in the ENT group compared with the C group, suggesting an energetic shift to a glycolytic phenotype in an oxidative environment in the ENT group compared to the C group. Metabolomic studies enable the identification of metabolic alterations occurring in fetuses with ENT. These findings may provide a new basis for better understanding the pathophysiological mechanisms in this prenatal phenomenon

The Italian guidelines on ultrasound in obstetrics and gynecology: Executive summary of recommendations for practice

Recently the Italian Ministry of Health, through National Committee for the Clinical Excellence (CNEC), commissioned to different scientific societies a number of clinical guidelines, to be developed according to a standardized methodology [1]. The Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG), together with other Italian scien- tific societies (SIGO, AOGOI, AGUI, SIMP, Italian Society of Legal Medicine, SIDiP, SIRU), has produced guidelines on the use of ultra- sound in obstetrics and gynecology [2] following the Grading of Rec- ommendations, Assessment, Development and Evaluations (GRADE) methodology [3,4] and reported according to the Appraisal of Guide- lines for Research and Evaluation Instrument (AGREE II) [5

Corrigendum to "The Italian guidelines on ultrasound in obstetrics and gynecology: Executive summary of recommendations for practice" [Eur. J. Obstetrics Gynecol. 279 (2022) 176-182]

The Italian guidelines on ultrasound in obstetrics and gynecology: Executive summary of recommendations for practic