Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study.

BACKGROUND: Expanded genetic screening before conception or during prenatal care can provide a more comprehensive evaluation of heritable fetal diseases. This study aimed to provide a large cohort to evaluate the significance of expanded carrier screening and to consolidate the role of expanded genetic screening in prenatal care. METHODS: This multicentre, retrospective cohort study was conducted between 31 December 2019 and 21 July 2022. A screening panel containing 302 genes and next-generation sequencing were used for the evaluation. The patients were referred from obstetric clinics, infertility centres and medical centres. Genetic counsellors conducted consultation for at least 15 min before and after screening. RESULTS: A total of 1587 patients were screened, and 653 pairs were identified. Among the couples who underwent the screening, 62 (9.49%) had pathogenic variants detected on the same genes. In total, 212 pathogenic genes were identified in this study. A total of 1173 participants carried at least one mutated gene, with a positive screening rate of 73.91%. Among the pathogenic variants that were screened, the gene encoding gap junction beta-2 (GJB2) exhibited the highest prevalence, amounting to 19.85%. CONCLUSION: Next-generation sequencing carrier screening provided additional information that may alter prenatal obstetric care by 9.49%. Pan-ethnic genetic screening and counselling should be suggested for couples of fertile age.

Plasmonic Luneburg lens antenna synthesized by metasurfaces with hexagonal lattices.

The metasurface lens composing of 2D periodic metallic patches on a grounded dielectric slab possesses several advantages such as being light, low-profile, compact, and also cheap to manufacture. In this paper, a Luneburg lens synthesized by a metasurface and designated for use as a surface wave antenna is proposed. Two types of unit cell will be compared, one whose surface wave modal dispersion varies significantly with the grazing direction and another that does not. In the context of being applied as surface wave antennas, it will be shown that the Luneburg lens synthesized by the latter kind of unit cell provides improved performance as compared to the former. Several aperture sub-efficiencies of the metasurface-based Luneburg-lens antenna shall be used for the characterization of the radiation. A prototype of the designed lens antenna has also been manufactured. Measurement results agree well with theoretical predictions and the efficacy of this device over a fairly wide bandwidth has been experimentally demonstrated.