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Objectives: To investigate the diagnostic utility of copy‐number variant (CNV) detection by chromosomal microarray analysis (CMA) and genotype‐phenotype associations in prenatal congenital anomalies of the kidney and urinary tract (CAKUT). Methods: This is a retrospective multi‐center study of CNV analysis in 457 fetuses with ultrasound‐detected CAKUT and normal karyotypes. Cohorts from published studies were included for further pooled analyses (N = 2746). A literature review of single‐nucleotide variant (SNV) and small insertions and deletions (Indel) analysis by whole‐exome sequencing was performed to investigate monogenic causes. Results: In our multi‐center cohort, 5.3% (24/457) of fetuses had pathogenic CNVs (pCNV); 3.9% (14/359) and 10.2% (10/98) in isolated and non‐isolated CAKUT, respectively. Fetuses with isolated hyperechogenic kidneys (HEK) had the highest incidence of having pCNVs. In the literature review, 6.6% (180/2746) of fetuses carried pCNVs; 6.1% and 7.5% in isolated and non‐isolated CAKUT, respectively. SNV/Indel analysis provided at least 16.5% (63/381) additional diagnostic yield beyond CNV analysis; 12.8% and 23.8% in isolated and non‐isolated CAKUT, respectively. Conclusion: pCNVs comprise a significant proportion of genetic diagnostic findings in prenatal CAKUT, most commonly detected in fetuses with isolated HEK, MCDK, renal agenesis, and non‐isolated CAKUT. Monogenic causes should be considered when karyotyping and CMA are nondiagnostic. [ABSTRACT FROM AUTHOR]

Doping narrow‐gap semiconductors is a well‐established approach for designing efficient thermoelectric materials. Semiconducting half‐Heusler (HH) and full‐Heusler (FH) compounds have garnered significant interest within the thermoelectric field, yet the number of exceptional candidates remains relatively small. It is recently shown that the vacancy‐filling approach is a viable strategy for expanding the Heusler family. Here, a range of near‐semiconducting Heuslers, TiFexCuySb, creating a composition continuum that adheres to the Slater‐Pauling electron counting rule are theoretically designed and experimentally synthesized. The stochastic and incomplete occupation of vacancy sites within these materials imparts continuously changing electrical conductivities, ranging from a good semiconductor with low carrier concentration in the endpoint TiFe0.67Cu0.33Sb to a heavily doped p‐type semiconductor with a stoichiometry of TiFe1.00Cu0.20Sb. The optimal thermoelectric performance is experimentally observed in the intermediate compound TiFe0.80Cu0.28Sb, achieving a peak figure of merit of 0.87 at 923 K. These findings demonstrate that vacancy‐filling Heusler compounds offer substantial opportunities for developing advanced thermoelectric materials. [ABSTRACT FROM AUTHOR]

Heterozygous loss‐of‐function variants in the PKD1 gene are commonly associated with adult‐onset autosomal dominant polycystic kidney disease (ADPKD), where the formation of renal cysts depends on the dosage of the PKD1 gene. Biallelic null PKD1 variants are not viable, but biallelic hypomorphic variants could lead to early‐onset PKD. We report a non‐consanguineous Chinese family with recurrent fetal polycystic kidney and negative findings in the coding region of the PKHD1 gene or chromosomal microarray analysis. Trio exome analysis revealed compound heterozygous variants of uncertain significance in the PKD1 gene in the index pregnancy: a novel paternally inherited c.7863 + 5G > C and a maternally inherited c.9739C > T, p.(Arg3247Cys). Segregation analysis through long‐range PCR followed by nested PCR and Sanger sequencing confirmed another affected fetus had both variants, while the other two normal siblings and the parents carried either variant. Thus, these two variants, both of which were hypomorphic as opposed to null variants, co‐segregated with prenatal onset polycystic kidney disease in this family. Functional studies are needed to further determine the impact of these two variants. Our findings highlight the biallelic inheritance of hypomorphic PKD1 variants causing prenatal onset polycystic kidney disease, which provides a better understanding of phenotype‐genotype correlation and valuable information for reproductive counseling. Key points: What is already known about this topic? Heterozygous loss of function variant in the PKD1 gene is the most common cause of autosomal dominant polycystic kidney disease.Renal cyst formation depends on the reduced functional polycystin level.Biallelic null variants in PKD1 are incompatible with life. However, biallelic hypomorphic variants could lead to very early onset PKD. What does this study add? This report expands the spectrum of biallelic hypomorphic PKD1 variants in prenatal‐ onset PKD.Studying the family members can significantly assist in the interpretation and counseling of variants of uncertain significance. [ABSTRACT FROM AUTHOR]

N‐type ZrNiSn‐based alloys reach a record thermoelectric figure of merit zT ≈1.2 by increasing the carrier concentration to 4–5 × 1020 cm−3. In this work, It is reported that a comparable zT can also be realized in trace Ru‐doped ZrNiSn‐based alloy at even lower temperature by decreasing the carrier concentration. Compared to the previously reported Co doping, the doping of Ru results in a more effective reduction in carrier concentration, and thus higher Seebeck coefficient, lower electronic thermal conductivity, and enhanced thermoelectric performance. The electronic specific heat coefficient of the ZrNi1‐xRuxSn sample remains constant with increasing Ru content, indicating no obvious change in the density of states effective mass. Theoretical calculations show that the doping of Ru has negligible effect on the bottom of conduction band. The lattice thermal conductivity is further reduced by alloying Ti and Hf at the Zr site, and the bipolar diffusion is suppressed by doping of 0.5 at.% Sb. As a result, Ti0.25Zr0.5Hf0.25Ni0.99Ru0.01Sn0.995Sb0.005 reaches not only a zT value of 1.1 at 773 K but also a record average zT value of 0.8 in 300 to 873 K, demonstrating the effectiveness of trace Ru doping on boosting the thermoelectric performance of ZrNiSn‐based alloys. [ABSTRACT FROM AUTHOR]