Objectives: The purpose of this study is to evaluate the feasibility of volume NT TM , a new technique that automatically archives mid-sagittal plane views and measures the maximum NT (Nuchal Translucency) distance, by comparing NT measurements with the conventional two (2D) and three dimensional (3D) techniques. Methods: The study population consisted of 100 consecutive singleton undergoing NT screening at 11-13 +6 weeks gestation. Fetuses with enlarged NT and multiple anomalies were excluded. Volume NT TM , 2D and 3D techniques were performed with Accuvix V20 Prestige (Samsung Medison Co).Four experienced operators participated in this study. Each operator manually measured the NT according to Herman score, FMF (Fetal Medecine Foundation) and with in to in assessment. Then through an approximated mid-sagittal section determined by conventional B-mode ultrasound, the operator obtained an NT automatically using Volume NT™ software.One less experienced operator blinded to 2D and 3D measurements of experts examined archive images of patients and obtained automatic measurement of the NT with Volume NT™ from in to in of the two echogenic lines delineating the NT. Results: Among the 100 cases initially included in this study, 24 cases were excluded from analysis because of exclusion criteria (NT increased and multiple abnormalities n = 6) or missing data (n = 18). Median measure of 2D NT (1.3 mm (0.7 to 3.4)) was higher than in 3D (1.2 mm (0.6 to 3)) without significant difference, probably due to ''In to In'' assessment. 25 cases of 2D NT measurements were associated with a low Herman score (<6). 23 of these 25 cases were associated with better Herman score (≥6) using Volume NT and even those measured by the least experienced operator (p = 0.035). Conclusions: Volume NTTM helps to improve Herman score, whenever 2D NT assessment is difficult to get, by obtaining a better sagittal plane, even in the hands of a less experienced operator. Objectives: To assess whether an increased hepatic artery flow during the first trimester is associated with Trisomy 21 or other adverse outcomes in high-risk for aneuploidy fetuses. Methods: In our centre, 160 first trimester consecutive fetuses at high risk for aneuploidy were scanned before CVS. CRL, NT and DV-PIV were measured and the presence of an increased flow in the hepatic artery, defined as a high velocity flow observed by colour Doppler at the time of the DV assessment. EP06.03Results: There were 15 (9%) fetuses with an increased hepatic artery flow. Among these, there were 2 trisomies 21, 4 fetuses with reversed A-wave at the DV; 6 fetuses with enlarged NT > p99 (5 with normal array-CGH); and in 6 cases with structural anomalies or an adverse outcome. The rates of increased hepatic flow among the previous conditions are: 17%, 27%, 40% and 40% respectively. Conclusions: Increased hepatic artery flow can be easily observed at the time of the DV assessment at the first trimester scan and when present there is a high risk of poor fetal outcome. Large prospective studies are ne...
Electronic poster abstractsMethods: 1719 patients were considered, with single pregnancy, who gave birth at a tertiary centre in North-East Italy over a period of one year. The patients have been divided into 4 groups, based on the choice made at the first trimester screening: 1) no tests (47.7%); 2) ultrascreen (24.1%); 3) NIPT (14.1%); 4) invasive diagnosis (ID) (14.1%). Results: In total 13 cases of Trisomy 21 were diagnosed (3 in patients not subjected to screening or prenatal diagnosis), and one case of Trisomy 18. An estimate was then made of the costs associated with each group. Ultrascreen followed by ID in high-risk subjects (estimated cost/patient of € 112.34, with 5.58% of invasive investigations and DR of 90%). NIPT with execution of ID in high-risk subjects (estimated cost/patient of € 579.10, with 5.29% of invasive surveys and DR of 99.2%). Contingent test: ultrascreen with ID execution in patients with risk (≥ 1/50) and NIPT in patients:(A) with risk between 1/51 and 1/300 (estimated cost/patient of € 117.66, with 2, 67% of invasive investigations and DR of 90%);(B) with risk between 1/51 and 1/1000 (estimated cost/patient of € 173.21, with 2.97% of invasive surveys and DR of 97%). Conclusions: The 1/51 -1/1000 cut-off seems to represent the best solution in terms of detection rate and expected cost for this screening strategy. The data emerging from the study point to a possible integration of NIPT in the combined screening of Trisomies 21, 18 and 13. EP04.07Cell-free DNA testing for common chromosomal aneuploidies: data from a single centre in a routine screening population
Using Array-CGH an extremely rare (prevalence < 1:1000000) de novo-deletion at chromosome 16q22 was detected, going along with a 16q-syndrome. There are only a few case reports in the literature. Typical symptoms are SGA, microcephaly, moderate to severe neurological, motorial and intellectual handicaps, spastic dysplegia, dysmorphic face, large fontanelles and wide skull sutures. Furthermore, 16q-is associated with cleft lip and palate as well as congenital cardiac disease. Genetic workup delivered the diagnosis to asses the developmental prognosis.On the basis of a concise diagnosis interdisciplinary counseling lead to consent agreement induce labour and follow a concept of palliation at 25/6 weeks of the pregnancy.The infant was born alive (615 g) and died 30 min thereafter under palliative care (warmth and analgesia) in his parents arms. On paidopathological workup the prenatal ultrasound findings could be fully confirmed. The parents fed back content with the chosen management of the situation, refraining from active fetocide, labour induction and care in the delivery room and psychological support. EP04.26Isolated aberrant right subclavian artery (ARSA) do not significantly increase the risk of aneuploidy
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