The introduction of cell-free DNA screening has resulted in increased prenatal identification of sex chromosome aneuploidies (SCAs). This study aimed to evaluate genetic counselor experiences disclosing SCAs positive prenatal screening or testing results and genetic counselor-reported parental questions regarding sex, gender, and sexual orientation. Forty-eight prenatal genetic counselors completed the survey.
View Article and Find Full Text PDFGenetic counseling graduate programs provide a rigorous curriculum comprised of coursework encompassing counseling and medical genetics, fieldwork, and research experience. Students face similar emotional and mental demands as practicing genetic counselors while also experiencing stressors commonly associated with graduate study. Increased self-awareness may help combat these stressors.
View Article and Find Full Text PDFAdvances in technology, decreasing cost of genetic testing, and growing public interest in genetics marked by an increased uptake of genetic testing, particularly direct-to-consumer genetic testing (DTC-GT), have led to an overwhelming demand for genetic counseling services. As such, various alternative service delivery models have been proposed to increase access to genetic counseling. Some service delivery models, such as asynchronous messaging, remain unexplored in the genetic counseling literature.
View Article and Find Full Text PDFCodling moth (CM) ( L.), a devastating pest, creates a serious issue for apple production and marketing in apple-producing countries. Therefore, effective nondestructive early detection of external and internal defects in CM-infested apples could remarkably prevent postharvest losses and improve the quality of the final product.
View Article and Find Full Text PDFBackground: Spinocerebellar ataxia 2 (SCA2) is an autosomal dominant neurodegenerative disorder caused by CAG repeat expansions in on chromosome 12q24. Patients present with adult-onset progressive gait ataxia, slow saccades, nystagmus, dysarthria and peripheral neuropathy. Dystonia is known to occur as SCA2 advances, but is rarely the presenting symptom.
View Article and Find Full Text PDFIridaepoxide dihydride complexes of a PCP ligand bearing benzo[b]thiophene linkers are synthesized through ligand coopertive NO and H activations. These neutral complexes also eliminate water at elevated temperatures to form the corresponding PCP complexes which results in the formal hydrogenation of NO to water. The synthesis of cationic iridaepoxide dihydride complexes are reported herein where the room temperature elimination of water is observed when a donating solvent is used.
View Article and Find Full Text PDFThe donor properties of five different PCcarbeneP ligands are assessed by evaluation of the CO stretching frequencies in iridium(i) and rhodium(i) carbonyl cations. The ligands feature dialkyl phosphine units (R = (i)Pr or (t)Bu) linked to the central benzylic carbon by either an ortho-phenylene bridge, or a 2,3-benzo[b]thiophene linker; in the former, substituent patterns on the phenyl linker are varied. The carbonyl complexes are synthesized from the (PCcarbeneP)M-Cl starting materials via abstraction of the chlorides in the presence of CO gas.
View Article and Find Full Text PDFObjective: To determine the relationship between maternal blood pressures throughout pregnancy and the risk of delivering a small-for-gestational-age (SGA) neonate.
Methods: Women were prospectively enrolled at 9-14 weeks and had serial blood pressure measurements throughout pregnancy. SGA prevalence was compared to maternal blood pressure at enrollment, average blood pressure during each trimester, and blood pressure trends throughout gestation.
Iridium complexes of the PC P ligand in which the donors are linked by 2,3-benzo[]thiophene groups engage in the cooperative activation of NO and the resulting iridaepoxides can be treated with dihydrogen to effect elimination of water and regeneration of the starting iridium complex. The mechanism of the steps in this reaction have been investigated using low temperature NMR investigations that reveal H/D exchange processes that point to a highly reactive kinetic product of hydrogen addition to the iridaepoxide. This intermediate is also involved in the water elimination pathway, and model compounds have been synthesized to provide further evidence for the mechanistic proposals for water elimination.
View Article and Find Full Text PDFA new PC(carbene)P pincer ligand with 2,3-benzo[b]thiophene linkers connecting the flanking dialkyl phosphine donors to the central carbene can be attached to Ir(I). The chloro derivative reacts with N2O with loss of N2 to form an iridaepoxide species by addition of an oxygen atom to the Ir═C linkage. This compound reacts with H2 to afford the oxidative addition product, in which the hydride ligands are trans to the Ir-O bond.
View Article and Find Full Text PDFObjective: To predict gestational diabetes mellitus (GDM) or normoglycemic status using first trimester maternal characteristics.
Methods: We used data from a prospective cohort study. First trimester maternal characteristics were compared between women with and without GDM.
Objective: The aim of this study was to investigate the predictive accuracy of second-trimester ultrasound parameters, maternal characteristics, and sequential Doppler changes between first and second trimesters for the prediction of small-for-gestational-age (SGA) infants (birth weight < 10th percentile).
Methods: We conducted a prospective study of singleton pregnancies enrolled in the first trimester with subsequent second-trimester follow-up. Maternal characteristics, uterine artery (UtA) pulsatility index (PI), fetal biometry, and umbilical artery (UA)-PI were ascertained.
Objective: To derive a prediction rule for preeclampsia and early onset preeclampsia requiring delivery <34 weeks using first trimester maternal, ultrasound, and serum markers.
Study Design: Prospective cohort study of women enrolled at first trimester screening. Maternal history, demographics, anthropometry, ultrasound parameters, and serum analytes were compared between women with preeclampsia and normal outcome.
Objective: First-trimester screening for subsequent delivery of a small-for-gestational-age (SGA) infant typically focuses on maternal risk factors and uterine artery (UtA) Doppler. Our aim is to test if incorporation of fetal umbilical artery (UA) and ductus venosus (DV) Doppler improves SGA prediction.
Study Design: Prospective screening study of singletons at 11-14 weeks.
Objective: The residual risk of preeclampsia in high-risk women on aspirin prophylaxis exceeds that of low-risk populations, and this study aimed to identify first-trimester maternal characteristics associated with aspirin prophylaxis failure.
Methods: This is a nested cohort study of prospectively enrolled women with verified initiation of risk-indicated aspirin prophylaxis by 16 weeks of gestation. First-trimester maternal history, demographics, anthropometry, ultrasound parameters, and serum analytes were compared between women who developed preeclampsia and those who did not.
Objective: To evaluate the impact of prior preeclampsia on first trimester assessment in subsequent pregnancy.
Methods: A total of 1283 parous patients were prospectively enrolled at 9-14 weeks of gestation. Maternal biophysical characteristics, ultrasound parameters and placental analytes were compared between women with and without prior preeclampsia.
Unsaturated spirocyclic substrates bearing two alkenyl chains underwent ruthenium-mediated ring-rearrangement metathesis through relaying cyclohexene and cycloheptene moieties to give angularly fused tricyclics. In some instances where two products were expected, high degrees of selectivity were observed. In one instance the structural parameter leading to selectivity was very subtle; in others the transformation favoured the formation of products with a cis-fused cyclohexene moiety.
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