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INTRODUCTION: 24 % of abortion in Italy are repeated procedure. The cause of repeated abortion can be traced back to the inadequacy of the contraceptive counseling during the previous admission or to the adoption of an ineffective contraception method. This study aims to evaluate the Italian situation on the perceived quality of contraceptive counselling by patients undergoing abortion. The second aim is to verify if the chosen methods were available for immediate start. STUDY DESIGN: Multicentric, prospective, non-interventional, non-randomized, non-pharmacological clinical observational study. We analyzed anonymous questionnaires on contraceptive counseling and LARC (Long Acting Reversable Contraceptives) availability and SARC (Short Acting Reversable Contraceptives) prescription at hospital discharge, distributed to women who requested abortion. RESULTS: 1074 participants on 15 hospitals through Italy. 82 % of the interviewees reported that they had received correct information regarding contraception. 74 % of the patients who chose LARC methods reported to have them inserted at the time of abortion. 73 % of women who had chosen a SARC method stated that they had received the prescription before discharge. After contraceptive counselling, we reported a significative reduction of "none or natural methods use" and a significant increase of SARC and LARC use compared to before the abortion. CONCLUSION: Contraceptive counselling could allow a better contraceptive choice in patient who required abortion and we hope that future strategies will implement LARC choice. We think that a greater availability of LARC at an affordable price at the time of abortion could improve LARC choice. In case of SARC choice, we have to implement the prescription at hospital discharged.
RESUMO
BACKGROUND: Thrombocytopenia-absent radius syndrome is a rare autosomal recessive disorder characterized by megakaryocytic thrombocytopenia and longitudinal limb deficiencies mostly affecting the radial ray. Most patients are compound heterozygotes for a 200 kb interstitial microdeletion in 1q21.1 and a hypomorphic allele in RBM8A, mapping in the deleted segment. At the moment, the complete molecular characterization of thrombocytopenia-absent radius syndrome is limited to a handful of patients mostly ascertained in the pediatric age CASE PRESENTATION: We report on a fetus with bilateral upper limb deficiency found at standard prenatal ultrasound examination. The fetus had bilateral radial agenesis and humeral hypo/aplasia with intact thumbs, micrognathia and urinary anomalies, indicating thrombocytopenia-absent radius syndrome. Molecular studies demonstrated compound heterozygosity for the 1q21.1 microdeletion and the RBM8A rs139428292 variant at the hemizygous state, inherited from the mother and father, respectively CONCLUSION: The molecular information allowed prenatal diagnosis in the following pregnancy resulting in the birth of a healthy carrier female. A review was carried out with the attempt to the trace the fetal ultrasound presentation of thrombocytopenia-absent radius syndrome and discussing opportunities for second-tier molecular studies within a multidisciplinary setting.
