Emergency contraception: unresolved clinical, ethical and legal quandaries still linger

Emergency contraception (EC) has been prescribed for decades, in order to lessen the risk of unplanned and unwanted pregnancy following unprotected intercourse, ordinary contraceptive failure, or rape. EC and the linked aspect of unintended pregnancy undoubtedly constitute highly relevant public health issues, in that they involve women's self-determination, reproductive freedom and family planning. Most European countries regulate EC access quite effectively, with solid information campaigns and supply mechanisms, based on various recommendations from international institutions herein examined. However, there is still disagreement on whether EC drugs should be available without a physician's prescription and on the reimbursement policies that should be implemented. In addition, the rights of health care professionals who object to EC on conscience grounds have been subject to considerable legal and ethical scrutiny, in light of their potential to damage patients who need EC drugs in a timely fashion. Ultimately, reproductive health, freedom and conscience-based refusal on the part of operators are elements that have proven extremely hard to reconcile; hence, it is essential to strike a reasonable balance for the sake of everyone's rights and well-being

Y RNA: an overview of their role as potential biomarkers and molecular targets in human cancers

Y RNA are a class of small non-coding RNA that are largely conserved. Although their discovery was almost 40 years ago, their function is still under investigation. This is evident in cancer biology, where their role was first studied just a dozen years ago. Since then, only a few contributions were published, mostly scattered across different tumor types and, in some cases, also suffering from methodological limitations. Nonetheless, these sparse data may be used to make some estimations and suggest routes to better understand the role of Y RNA in cancer formation and characterization. Here we summarize the current knowledge about Y RNA in multiple types of cancer, also including a paragraph about tumors that might be included in this list in the future, if more evidence becomes available. The picture arising indicates that Y RNA might be useful in tumor characterization, also relying on non-invasive methods, such as the analysis of the content of extracellular vesicles (EV) that are retrieved from blood plasma and other bodily fluids. Due to the established role of Y RNA in DNA replication, it is possible to hypothesize their therapeutic targeting to inhibit cell proliferation in oncological patients

A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions

Achondrogenesis type II (ACG2) is a lethal skeletal dysplasia caused by dominant pathogenic variants in COL2A1. Most of the variants found in patients with ACG2 affect the glycine residue included in the Gly-X-Y tripeptide repeat that characterizes the type II collagen helix. In this study, we reported a case of a novel splicing variant of COL2A1 in a fetus with ACG2. An NGS analysis of fetal DNA revealed a heterozygous variant c.1267-2_1269del located in intron 20/exon 21. The variant occurred de novo since it was not detected in DNA from the blood samples of parents. We generated an appropriate minigene construct to study the effect of the variant detected. The minigene expression resulted in the synthesis of a COL2A1 messenger RNA lacking exon 21, which generated a predicted in-frame deleted protein. Usually, in-frame deletion variants of COL2A1 cause a phenotype such as Kniest dysplasia, which is milder than ACG2. Therefore, we propose that the size and position of an in-frame deletion in COL2A1 may be relevant in determining the phenotype of skeletal dysplasia

Non-coding RNAs and endometrial cancer

Non-coding RNAs (ncRNAs) are involved in the regulation of cell metabolism and neoplastic transformation. Recent studies have tried to clarify the significance of these information carriers in the genesis and progression of various cancers and their use as biomarkers for the disease; possible targets for the inhibition of growth and invasion by the neoplastic cells have been suggested. The significance of ncRNAs in lung cancer, bladder cancer, kidney cancer, and melanoma has been amply investigated with important results. Recently, the role of long non-coding RNAs (lncRNAs) has also been included in cancer studies. Studies on the relation between endometrial cancer (EC) and ncRNAs, such as small ncRNAs or micro RNAs (miRNAs), transfer RNAs (tRNAs), ribosomal RNAs (rRNAs), antisense RNAs (asRNAs), small nuclear RNAs (snRNAs), Piwi-interacting RNAs (piRNAs), small nucleolar RNAs (snoRNAs), competing endogenous RNAs (ceRNAs), lncRNAs, and long intergenic ncRNAs (lincRNAs) have been published. The recent literature produced in the last three years was extracted from PubMed by two independent readers, which was then selected for the possible relation between ncRNAs, oncogenesis in general, and EC in particular

Ultrasonographic factors predicting a poor outcome in pregnancies between 8 and 10 + 6 week's gestation

ObjectivesThe aim of this prospective study is to assess the value of ultrasonographic findings in predicting unfavourable outcome in pregnancies between 8 and 10 + 6 weeks' gestation (WG).MethodsThis is a prospective study on live embryos between 8 and 10 + 6 WG performed in a tertiary center by a single fetal medicine specialist. The local research ethic committee approved the study protocol and patients were enrolled after an informed written consent. Embryonic crown–rump length (CRL), heart rate (HR) and yolk sac diameter (YSD) were measured and new ultrasonographic findings (embryonic skin edema and hydrothorax) were evaluated transvaginally. Fetal outcome was evaluated at 22 WG. Miscarriages, chromosomal abnormalities and fetal malformations were recorded and considered as unfavourable outcome. Logistic regression analysis was used in order to evaluate if the continuous variables CRL, HR and YSD and the categorical variables skin edema and hydrothorax have a significant effect on unfavourable outcome.ResultsFrom October 2011 and December 2013; 1318 consecutives patients with a live embryo pregnancy between 16mm and 44mm of CRL were enrolled in this prospective study. Final outcome was available in 1244 as in 74 cases patients were lost to the follow‐up. In 1182 cases, second trimester ultrasound confirmed a normal development. Follow‐up revealed a miscarriage in 29 cases, a chromosomal abnormality in 6 cases and a fetal malformation in 27 cases. Multivariate logistic regression analysis showed that in the prediction of unfavourable outcome the risk was higher when skin edema (odds ratio: 13.457) and hydrothorax (odds ratio:19.965) were found. However, CRL, HR and YSD didn't have a significant effect on the risk of unfavorable outcome.ConclusionsEarly ultrasonographic evaluation between 8 and 10 + 6 WG allows predicting the risk of poor outcome. Skin edema and bilateral hydrothorax are high predictors of miscarriage, chromosomal abnormalities and fetal malformations.info:eu-repo/semantics/publishe

Early evaluation of embryonic anatomy: factors influencing ultrasonographic visualisation between 8 and 10+6 weeks’ gestation

ObjectivesTo prospectively assess the contribution of different factors in the visualisation of embryonic anatomy between 8 and 10+6 week's gestation (WG) in a low‐risk population.MethodsThe study protocol on sonoembryology was approved by the local ethic committee. In our tertiary center, all pregnant women below 11 WG underwent a transvaginal ultrasound for an early anatomical assessment of embryonic anatomy. A single fetal medicine specialist performed all the examinations, previous a written informed consent by the patient. Multivariable logistic regression analysis was used in order to investigate the effect on the ability to visualise separately: brain, eyes, superior lip, four‐chamber view, outflow tracts, arms and legs, stomach, kidneys, spine and bladder. The following parameters were tested as continuous numerical variables: fetal crown–rump length (CRL (mm), maternal body mass index (BMI (kg/m2), distance between the transducer and the crux of the heart (mm). The parity and the position of the placenta (between or not between the ultrasound beam and the embryo) were tested as categorical variables.ResultsFrom October 2011 to December 2013; 1318 consecutives patients with a live embryo pregnancy between 16 mm and 44 mm of CRL were enrolled in this prospective study. Regression analysis showed that the ability to visualise heart anatomy, brain, arms and legs depends on the CRL and on the distance between the probe and the embryo. The ability to visualize the face, the stomach, the kidneys and the spine depends on the CRL, the distance between the probe and the embryon, the parity and the position of the placenta. According to GA, percentage of visualisation for different anatomical parts was also evaluated.ConclusionsSonographic assessment of human embryo anatomy can be performed as early as 8 WG. CRL and distance between the probe and embryo are the most important factor influencing visualisation of embryon anatomy.info:eu-repo/semantics/publishe

Correlation between prenatal ultrasound and autopsy findings: a study on first trimester abortion

Objectives: The aim of the study is to evaluate discrepanciesbetween sonographic and autopsy findings following terminationof pregnancy (TOP) before 14 weeks’ gestation (WG).Methods: In a 4-year long prospective study, 48 first-trimestersTOP were performed due to fetal malformations or chromosomalabnormalities in a tertiary referral center. All patientsunderwent a vaginal delivery and a classical autopsy was performed.Ultrasound findings were compared with fetal autopsyfindings.Results: Median gestational age at termination was 13 WG and3 days. The 48 major fetal anomalies diagnosed by prenatalultrasound were: 23 chromosomal abnormalities, 7 severe neuraltube defects, 6 congenital heart diseases, 2 body stalk syndromes,1 rubella infection, 1 sickle cell anaemia, 2 kystic hygroma, 1 lowurinary tract obstruction ,2 Fetal Akinesia Deformation Sequence, 1 Cantrell Pentalogy, 2 amniotic band syndrome. All of these majorabnormalities were confirmed by fetal autopsy and no pregnancieswere terminated because of false positive ultrasound observations.Overall, a full concordance between sonographic and autopsyfindings was observed only in 50% of the cases. Discordancesconcerned the skeletal system in 22% of the cases, cranio-facialsystem in 10%, gastrointestinal system in 8%, genitourinarysystem in 8%, cardiovascular system in 4%. Concerning thecentral nervous system, specimens could not be analyzed in 30%of the cases due to their size and the tissue maceration; inthe remaining cases, discordance was observed in 6% of thecases.Conclusions: Fetal autopsy may provide additional information tothe ultrasonographic morphological evaluation of the fetus submittedto TOP due to chromosomal abnormalities or malformationsbefore 14 weeks’ gestation. The combination of prenatal ultrasoundand pathological examination can contribute to improve the qualityof perinatal care and of preconceptional counseling for subsequentpregnancies.info:eu-repo/semantics/publishe

Early evaluation of fetal heart anatomy: a prospective study from 6 to 10 weeks' gestation.

ObjectivesThe aim of the study is to evaluate the feasibility of an early cardiac examination and the sensibility in detecting congenital heart diseases between 6 and 10 weeks' gestation (WG).MethodsFrom October 2011 to January 2013, patients referred to our institution for an early scan before 11 WG were asked to participate to the study signing a written consent. A single fetal medicine specialist performed all the exams using alternatively a high frequency tranvaginal probe (6–12 MHz) or a conventional transvaginal probe (5–9 MHz) according to the distance between the probe and the fetal heart. The fetal heart anatomy has been assessed by the four chambers and great vessels views. Data were compared to the second trimester anomaly scan and autopsy.ResultsWe enrolled 733 patients and a total of 750 foetuses. Forty cases were excluded: 33 miscarriages, 3 molar pregnancies and 4 patients who refused a transvaginal scan. The 4 chambers view could be visualized in 51,4% of the cases between 6 and 8 WG, 90% of the cases between 8 and 10 WG and 97% between 10 and 11 WG. The greats vessels could be visualized in 49% of the cases before 9 WG, in 79,7% of the cases between 9 and 10 WG and in 94% of the cases between 10 and 11 WG. Seventy‐five cases were lost to the follow‐up after a normal first trimester scan. In 378 out of 635 cases, cardiac anatomy (4 chambers and great vessels) was considered normal and it was confirmed by a second trimester scan. In 7 out of 625 cases, a fetal heart abnormality was suspected. Later investigations confirmed the presence of a cardiac abnormality in 3 cases: an ectopia cordis in a Cantrell syndrome, a hypolastic left ventricle, and an atrio‐ventricular septal defect. In the remaining 4 cases, no cardiac abnormality was found.ConclusionsCardiac anatomy can be assessed very early in pregnancy, with a high sensibility in detecting congenital heart diseases and a high negative predictive value.info:eu-repo/semantics/publishe