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

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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

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

Screening and Invasive Testing in Twins

Prenatal screening and testing for trisomy 21 in twin pregnancies poses a number of challenges: the exact estimate of the a priori risk of trisomy 21, the choice of prenatal screening test and/or invasive techniques to employ for the diagnosis and the impact of the result on the options of treatment in case of discordant results within a twin pair or among multiples. These different aspects are discussed below while recognizing that many issues remain unresolved

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

A Case of Enlarged Intracranial Translucency in a Fetus with Blake’s Pouch Cyst

The intracranial translucency (IT) is a recently introduced marker of open spina bifida (OSB). In this study, we describe a case of a fetus affected by Blake’s pouch cyst which showed alterations of BS/BSOB ratio at the first trimester screening

Case Report Color Doppler Score: A New Approach for Monitoring a Large Placental Chorioangioma

We employed color Doppler score as an innovative approach for the prenatal diagnosis and monitoring of a large placental chorioangioma case diagnosed at 26 weeks and the subjective semiquantitative assessment of the vascularization. The blood flow was assessed by a color Doppler score based on the intensity of the color signal with the following value ranges: (1) no flow, (2) minimal flow, (3) moderate flow, and (4) high vascular flow. Weekly examinations were programmed. Initially, a color Doppler score 3 was assigned, remaining unchanged at the following two exams and decreasing to Score 2 in the following 2 exams and to Score 1 thereafter. The ultrasonographic scan showed an increase of the mass size at the second and third exams and was followed by an arrest of the growth persisting for the rest of the pregnancy. Some hyperechogenic spots inside the mass appeared at the end. Expectant management was opted for, and the delivery was at 39, 2 weeks and maternal and fetal outcomes were favourable. The color Doppler score employed for assessment of vascularization in successive examinations proved to be an important tool for the prediction of the chorioangioma involution, and this new approach of monitoring allowed effective surveillance and successful tailored management

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