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1.
Fetal Diagn Ther ; : 1-8, 2020 Jul 13.
Artigo em Inglês | MEDLINE | ID: mdl-32659771

RESUMO

INTRODUCTION: Contingent cell-free (cf) DNA screening on the basis of the first-trimester combined test (FCT) results has emerged as a cost-effective strategy for screening of trisomy 21 (T21). OBJECTIVES: To assess performance, patients' uptake, and cost of contingent cfDNA screening and to compare them with those of the established FCT. METHODS: This is a prospective cohort study including all singleton pregnancies attending to their FCT for screening of T21 at 2 university hospitals in South Spain. When the FCT risk was ≥1:50, there were major fetal malformations, or the nuchal translucency was ≥3.5 mm, women were recommended invasive testing (IT); if the risk was between 1:50 and 1:270, women were recommended cfDNA testing; and for risks bellow 1:270, no further testing was recommended. Detection rate (DR), false-positive rate (FPR), patients' uptake, and associated costs were evaluated. RESULTS: We analyzed 10,541 women, including 46 T21 cases. DR of our contingent strategy was 89.1% (41/46) at 1.4% (146/10,541) FPR. Uptake of cfDNA testing was 91.2% (340/373), and overall IT rate was 2.0%. The total cost of our strategy was €1,462,895.7, similar to €1,446,525.7 had cfDNA testing not been available. CONCLUSIONS: Contingent cfDNA screening shows high DR, low IT rate, and high uptake at a similar cost than traditional screening.

2.
Dalton Trans ; 43(23): 8849-60, 2014 Jun 21.
Artigo em Inglês | MEDLINE | ID: mdl-24781448

RESUMO

Dicatenar pyridine-functionalised pyrazole ligands [Hpz(R(n,n)py)] (R(n,n) = C6H3(OCnH2n+1)2, n = 4, 6, 8, 10, 12, 14, 16, 18) have been strategically synthesised to be used as new building blocks for designing discotic liquid crystalline materials. Their coordination to Pd(II) fragments has allowed to achieve two novel families of metallomesogens, [Pd(pz(R(n,n)py))2] () and [PdCl2(Hpz(R(n,n)py))] (), in which the ligand is coordinated in the anionic form as pyrazolate or in the neutral form as pyrazole, respectively. Thermal studies showed that the ligands with n = 14 and 16 carbon atoms, as well as all the palladium complexes, display discotic mesophases in the temperature range of 68-141 °C. The results indicate that the coordination environment around the metal is a determining factor which allows control of the supramolecular arrangement of the mesophase. Disc-like molecules from complexes pack themselves into cylindrical structures that result in hexagonal columnar phases (Colh), while the half-disc shaped molecules from self-assemble into a layer with an antiparallel dimeric disposition which generates lamellar columnar phases (ColL). Schematic models based on X-ray powder diffraction (XRD) experiments are proposed to illustrate the molecular organisation of these Pd metallomesogens in the columnar mesophases.

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