[Genetic origin analysis of regions of homozygosity in three cases].

OBJECTIVE: To explore the genetic characteristics of three fetuses with regions of homozygosity (ROH). METHODS: Three fetuses with ROH diagnosed at Nanjing Drum Tower Hospital on December 2, 2020, March 19, 2021, and May 27, 2022, respectively were selected as the study subjects. Clinical data of the fetuses were collected. Chromosomal microarray analysis (CMA) was used to detect the ROH, and tandem repeat sequences (STR)-based multiplex PCR assay was used to identify the mosaicism status in fetus 1. RESULTS: Partial maternal isodisomy (iUPD) (16) was found in fetus 1, for which trisomy rescue may be accountable. Meanwhile, the fetus also has confined placental mosaicism (CPM) but not true mosaicism. The formation mechanism of ROH for fetus 2 was identity by descent. Partial maternal iUPD (7) was found in fetus 3, which may be due to gametic recombination. CONCLUSION: The ROH of the three fetuses were inherited from both parents or the mother. Above findings suggested that it is justified to detect ROH on imprinting disorder-related chromosomes when potential uniparental disomy is suspected.

[Prenatal diagnosis and phenotypic analysis of two fetuses harboring heterozygous deletions of SHOX gene].

OBJECTIVE: To explore the clinical manifestations of two fetuses harboring heterozygous deletions of the SHOX gene. METHODS: Two pregnant women who had presented at the Prenatal Diagnosis Center of Nanjing Drum Tower Hospital respectively on June 24, 2022 and July 27, 2022 were selected as the study subjects. In case 1, prenatal ultrasonography had shown short femur and intrauterine growth retardation of the fetus. Case 2 had a history of spontaneous abortions due to structural chromosomal aberrations. Fetus 1 had undergone a test for the FGFR3 gene, and both fetuses were subjected to single nucleotide polymorphism-based microarray (SNP array) analysis. RESULTS: After excluding the influence of FGFR3 gene variant, fetus 1 was found to harbor a heterozygous 883 kb deletion at Xpter or Ypter, whilst fetus 2 was found to harbor a 5.75 Mb deletion in the Xpter region. Both deletions have encompassed the SHOX gene. The origin of the deletion in fetus 1 was unknown, whilst that in fetus 2 was inherited from its mother. Fetus 1 has been delivered at term with a normal phenotype, and fetus 2 was not born yet. CONCLUSION: The intrauterine and postnatal phenotypes of fetuses may be predicted by combining the ultrasound finding, parental phenotype and results of CMA, and the results can facilitate genetic counseling and decision making over the pregnancy.

Fetal congenital gastrointestinal obstruction: prenatal diagnosis of chromosome microarray analysis and pregnancy outcomes.

OBJECTIVE: The aim of this study was to investigate the incidence of chromosome anomalies in different types of congenital gastrointestinal obstruction and assess pregnancy outcomes of fetuses with congenital gastrointestinal obstruction. METHODS: A total of 64 cases with gastrointestinal obstruction between January 2014 and December 2020 were enrolled in this study. They were divided into three groups according to sonographic images. Group A: isolated upper gastrointestinal obstruction; Group B: isolated lower gastrointestinal obstruction; Group C: non-isolated gastrointestinal obstruction. The rate of chromosome anomalies in different groups was calculated. Pregnant women with amniocentesis were followed up by medical records and telephone. The follow-up included pregnancy outcomes and development of the live born infants. RESULT: From January 2014 to December 2020, there were 64 fetus with congenital gastrointestinal obstruction underwent chromosome microarray analysis(CMA), the overall detection rate of CMA testing was 14.1%(9/64). The detection rate of Group A, B and C were 16.2%, 0 and 25.0% respectively. 9 fetuses with abnormal CMA results were all terminated. Among 55 fetuses with normal chromosomes, 10(18.2%) fetuses were not found to have any gastrointestinal obstruction after birth. 17(30.9%) fetuses were diagnosed with gastrointestinal obstruction and underwent surgical treatment after birth, one of which had lower gastrointestinal obstruction combined with biliary obstruction and died due to liver cirrhosis. 11(20.0%) pregnancy were terminated due to multiple abnormalities. 5(9.1%) fetuses were intrauterine death. 3(5.5%) fetuses were neonatal deaths. 9(16.4%) fetuses were lost to follow-up. CONCLUSION: It is crucial to understand whether the gastrointestinal tract abnormality is isolated or associated to other findings. The risk of chromosomal abnormalities in fetuses with isolated lower gastrointestinal obstruction is lower than upper gastrointestinal obstruction. While genetic abnormalities excluded, a promising prognosis is expected for fetuses with congenital gastrointestinal obstruction.

A neuromorphic bionic eye with filter-free color vision using hemispherical perovskite nanowire array retina.

Spherical geometry, adaptive optics, and highly dense network of neurons bridging the eye with the visual cortex, are the primary features of human eyes which enable wide field-of-view (FoV), low aberration, excellent adaptivity, and preprocessing of perceived visual information. Therefore, fabricating spherical artificial eyes has garnered enormous scientific interest. However, fusing color vision, in-device preprocessing and optical adaptivity into spherical artificial eyes has always been a tremendous challenge. Herein, we demonstrate a bionic eye comprising tunable liquid crystal optics, and a hemispherical neuromorphic retina with filter-free color vision, enabled by wavelength dependent bidirectional synaptic photo-response in a metal-oxide nanotube/perovskite nanowire hybrid structure. Moreover, by tuning the color selectivity with bias, the device can reconstruct full color images. This work demonstrates a unique approach to address the color vision and optical adaptivity issues associated with artificial eyes that can bring them to a new level approaching their biological counterparts.

[Follow-up of fetuses with de novo copy number variations of unknown significance detected by chromosomal microarray analysis].

OBJECTIVE: To analyze the prognosis of fetuses identified with de novo variants of unknown significance (VOUS) by chromosome microarray analysis (CMA). METHODS: A total of 6 826 fetuses who underwent prenatal CMA detection at the Prenatal Diagnosis Center of Drum Tower Hospital from July 2017 to December 2021 were selected as the study subjects. The results of prenatal diagnosis, and outcome of fetuses identified with VOUS of de novo origin were followed up. RESULTS: Among the 6 826 fetuses, 506 have carried VOUS, of which 237 were detected for the parent-of-origin and 24 were found to be de novo. Among the latters, 20 were followed up for 4 to 24 months. Four couples had opted elective abortion, 4 had developed clinical phenotypes after birth, and 12 were normal. CONCLUSION: Fetuses with VOUS should be continuously follow-up, in particular those carrying de novo VOUS, in order to clarify their clinical significance.

[Analysis of genetic etiology and related factors in 1 065 women with spontaneous abortions].

OBJECTIVE: To explore the genetic etiology and related factors in 1 065 women with spontaneous abortions. METHODS: All patients have presented at the Center of Prenatal Diagnosis of Nanjing Drum Tower Hospital from January 2018 to December 2021. Chorionic villi and fetal skin samples were collected, and the genomic DNA was assayed by chromosomal microarray analysis (CMA). For 10 couples with recurrent spontaneous abortions but normal CMA results for abortive tissues, non-in vitro fertilization-embryo transfer (IVF-ET) pregnancies and no previous history of live births and no structural abnormalities of the uterus, peripheral venous blood samples were collected. Genomic DNA was subjected to trio-whole exome sequencing (trio-WES). Candidate variants were verified by Sanger sequencing and bioinformatics analysis. Multifactorial unconditional logistic regression analysis was carried out to analyze the factors that may affect chromosomal abnormality in spontaneous abortions, such as the age of the couple, number of previous spontaneous abortions, IVF-ET pregnancy and history of live birth. The incidence of chromosomal aneuploidies in spontaneous abortions during the first trimester was compared in young or advanced-aged patients by chi-square test for liner trend. RESULTS: Among the 1 065 spontaneous abortion patients, 570 cases (53.5%) of chromosomal abnormalities were detected in spontaneous abortion tissues, which included 489 cases (45.9%) of chromosomal aneuploidies and 36 cases (3.4%) of pathogenic/likely pathogenic copy number variations (CNVs). Trio-WES results have revealed one homozygote variant and one compound heterozygote variants in two pedigrees, both of which were inherited from the parents. One likely pathogenic variant was detected in the patient from two pedigrees. Multifactorial unconditional Logistic regression analysis suggested that age of patient was an independent risk factor of chromosome abnormalities (OR = 1.122, 95%CI: 1.069-1.177, P < 0.001), the number of previous abortions and IVF-ET pregnancy were independent protective factors for chromosomal abnormalities (OR = 0.791, 0.648; 95%CI: 0.682-0.916, 0.500-0.840; P = 0.002, 0.001), whilst the age of husband and history of live birth were not (P > 0.05). The incidence of aneuploidies in the abortive tissues has decreased with the number of previous spontaneous abortions in young patients (χ² = 18.051, P < 0.001), but was not significantly correlated with the number of previous spontaneous abortions in advanced-aged patients with spontaneous abortions (P > 0.05). CONCLUSION: Chromosomal aneuploidy is the main genetic factor for spontaneous abortion, though CNVs and genetic variants may also underlie its genetic etiology. The age of patients, number of previous abortions and IVF-ET pregnancy are closely associated with chromosome abnormalities in abortive tissues.

[Value of chromosomal microarray analysis for the diagnosis of fetuses with anomalies of central nervous system].

OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of fetuses with anomalies of the central nervous system (CNS) and summarize the outcome of the pregnancies and follow-up. METHODS: A total of 636 fetuses from June 2014 to December 2020 who were referred to the Prenatal Diagnosis Center of Nanjing Drum Tower Hospital due to abnormal CNS prompted by ultrasound were selected as the research subjects. Based on the ultrasound findings, the fetuses were divided into ventricular dilatation group (n = 441), choroid plexus cyst group (n = 41), enlarged posterior fossa group (n = 42), holoprosencephaly group (n = 15), corpus callosum hypoplasia group (n = 22), and other anomaly group (n = 75). Meanwhile, they were also divided into isolated (n = 504) and non-isolated (n = 132) groups based on the presence of additional abnormalities. Prenatal samples (amniotic fluid/chorionic villi/umbilical cord blood) or abortus tissue were collected for the extraction of genomic DNA and CMA assay. Outcome of the pregnancies and postnatal follow-up were summarized and subjected to statistical analysis. RESULTS: In total 636 fetuses with CNS anomalies (including 89 abortus tissues) were included, and 547 cases were followed up. The overall detection rate of CMA was 11.48% (73/636). The detection rates for the holoprosencephaly group, ACC group, choroid plexus cyst group, enlarged posterior fossa group, ventricular dilatation group and other anomaly group were 80% (12/15), 31.82% (7/22), 19.51% (8/41), 14.29% (6/42), 7.48% (33/441) and 9.33% (7/75), respectively. Compared with the isolated CNS anomaly group, the detection rate for the non-isolated CNS anomaly group was significantly higher (6.35% vs. 31.06%) (32/504 vs. 41/132) (χ² = 62.867, P < 0.001). Follow up showed that, for 52 fetuses with abnormal CMA results, 51 couples have opted induced labor, whilst 1 was delivered at full term with normal growth and development. Of the 434 fetuses with normal CMA results, 377 were delivered at full term (6 had developmental delay), and 57 couples had opted induced labor. The rate of adverse pregnancy outcome for non-isolated CNS abnormal fetuses was significantly higher than that of isolated CNS abnormal fetuses (26.56% vs. 10.54%) (17/64 vs. 39/370) (χ² = 12.463, P < 0.001). CONCLUSION: Fetuses with CNS anomaly should be tested with CMA to determine the genetic cause. Most fetuses with negative CMA result have a good prognosis, but there is still a possibility for a abnormal neurological phenotype. Fetuses with CNS abnormalities in conjunct with other structural abnormalities are at increased risk for adverse pregnancy outcomes.

Method to Inhibit Perovskite Solution Aging: Induced by Perovskite Microcrystals.

The main feature of perovskite solar cells (PSCs) is that the perovskite layer can be fabricated by the solution method, while the long-time stability of the precursor solution is critical. During the fabrication of formamidinium (FA)-based PSCs, the introduction of methylammonium cations (MA+) in the precursor solution can accelerate the crystallization process of the perovskite layer, stabilize the perovskite structure, and passivate defects. However, MA+ is easy to deprotonate to generate MA molecules, and it then condensates with formamidinium iodide (FAI) to form adverse byproducts. Herein, perovskite microcrystals (MCs) for preparing perovskite precursor solution were investigated in details, which can improve the long-term stability of the precursor solution and the perovskite film. We found that FA+ in MC solution was confined in the three-dimensional scaffold, preventing it from reacting with MA+. Meanwhile, MCs can effectively promote nucleation to form large grains in perovskite films. The photoelectric conversion efficiency (PCE) of the device with 3 week-aged MC solution remains at 90% and is only reduced by 10% after 160 h of continuous operation, which far exceeds the performance of the PCE of those based on mixed monomer powder (MP) solution. Therefore, perovskite MCs, an effective reactive inhibitor to improve the stability of perovskite precursor solutions, are of great significance for large-scale commercial fabrication.

[Pathological variant of OFD1 gene identified in a pedigree affected with oral-facial-digital syndrome type 1].

OBJECTIVE: To detect pathological variant in a Chinese pedigree affected with oral-facial-digital syndrome type 1 (OFD1). METHODS: Whole-exome sequencing was used to scan the whole exome of the proband. Potential variant of the OFD1 gene was also detected in all members of the pedigree and 100 healthy controls by Sanger sequencing. X chromosome inactivation analysis was performed. With the determination of the genotype, prenatal diagnosis was carried out by amniotic fluid sampling. RESULTS: A c.1189_1192delAATC (p. Q398Lfs*2) variant was identified in the OFD1 gene of the proband, other patients from this pedigree, as well as the fetus. The same variant was not found among healthy members from this pedigree and the 100 healthy controls. X chromosome inactivation analysis identifies the pregnant woman and her younger sister both had a non-random inactivation, other women patients had a random inactivation. CONCLUSION: The c.1189_1192delAATC (p. Q398Lfs*2) variant of the OFD1 gene probably underlies the pathogenesis in this case. The new variant has enriched pathological spectrum of the OFD1 gene. The reason of intrafamilial clinical variability still need to be further confirmed.

Hyperferritinemia Correlates to Metabolic Dysregulation and Steatosis in Chinese Biopsy-Proven Nonalcoholic Fatty Liver Disease Patients.

Purpose: Elevated serum ferritin (SF), also defined as hyperferritinemia, is commonly seen in patients with nonalcoholic fatty liver disease (NAFLD). However, the clinical significance of SF in NAFLD remains controversial. The aim of this study was to characterize the NAFLD patients with elevated SF and to explore the association of hyperferritinemia with the severity of NAFLD proved by liver biopsy in the Chinese population. Patients and Methods: A total of 136 NAFLD patients proved by liver biopsy were enrolled. The demographic, anthropometric, clinical historic, laboratory, and histological characteristics were compared between elevated and normal SF groups. The independent factors for elevated SF were determined using multivariate logistic regression analysis. Results: The median age and body mass index were 41.00 (33.00-57.75) years and 28.28 (26.28-31.34) kg/m2, respectively. Hyperferritinemia was detected in 57 (41.9%) patients. Patients in the elevated SF group presented with more severe lipo- and glucometabolic disorder, and higher aminotransferases compared to those in the normal SF group (p < 0.05). In terms of histopathology, elevated SF was associated with worse steatosis and a higher proportion of positive iron staining (p < 0.05). Multivariate logistic regression analysis identified homeostasis model assessment of insulin resistance (OR: 1.170, 95% CI: 1.036-1.322, p = 0.012), alanine aminotransferase (OR: 1.012, 95% CI: 1.005-1.019, p < 0.001), and positive Perl's staining (OR: 4.880, 95% CI: 2.072-11.494, p < 0.001) as independent risk factors of hyperferritinemia. Conclusion: NAFLD patients with hyperferritinemia were characterized as more severe metabolic dysfunction and liver injury. More attention should be paid to the metabolism state of NAFLD patients with elevated SF. Hyperferritinemia was correlated to hepatic steatosis in Chinese NAFLD patients.

Genetic testing of UGT1A1 in the diagnosis of Gilbert syndrome: The discovery of seven novel variants in the Chinese population.

BACKGROUND: Genetic testing of UGT1A1 was used to facilitate the diagnosis of Gilbert syndrome, and analyze the distribution features of pathogenic variants in the Chinese population. METHODS: DNA was extracted from whole blood samples of patients with unconjugated hyperbilirubinemia, and sequencing of the UGT1A1 gene was performed after PCR amplification. After alignment with reference sequences, the known pathogenic variants were identified, the variant spectrum was analyzed, and the pathogenicity of novel variants was predicted using online mutation prediction tools. RESULTS: A total of 117 patients were confirmed with Gilbert syndrome by UGT1A1 genetic diagnosis, where the most common pathogenic variants included promoter A(TA)7 TAA insertion and p.Gly71Arg missense variant. Following novel variants were also identified: p.Ala61Gly, p.Tyr67Phe, p.Leu166Alafs*16, p.Arg240Lys, p.Ser306Phe, p.Arg341Gln, and p.Glu424* variants. CONCLUSIONS: Genetic testing of UGT1A1 in clinical practices could facilitate confirming Gilbert syndrome and performing differential diagnosis. The pathogenic variant spectrum in the Chinese population was similar to other Asian populations. The novel pathogenic variants identified in this study require further investigation.

[Practice of clinical application of noninvasive prenatal testing based on cell-free fetal DNA].

OBJECTIVE: To assess the application value of noninvasive prenatal testing (NIPT) based on cell-free fetal DNA. METHODS: The results of 2777 cases of basic and extended NIPT were retrospectively analyzed. The clinical data and outcome of pregnancy were analyzed, in addition with the diagnosis rate and testing efficiency. RESULTS: Among the 2777 pregnant women, 1192 (42.9%) had accepted basic NIPT and 1585 (57.1%) accepted extended NIPT. With a failure rate of 0.1%, 8 and 6 cases were reported respectively as high-risk pregnancies for trisomy 21 and sex chromosomal abnormalities. Other genetic abnormalities were detected in 32 cases. The positive predictive value for trisomy 21 was 85.7%, and one case of 47,XXX was diagnosed among 3 women with high risks for sex chromosomal abnormalities. For those with a high risk for other genetic abnormalities, pregnant diagnosis rates of basic and extended NIPT were 71.4% (5/7) and 68.2% (15/22), respectively. Seven copy number variations (CNVs) were confirmed, including one pathogenic CNV, one likely pathogenic CNV and 5 variants of unknown significance. Among 6 cases with high-risk of maternal CNVs, 5 fetuses and the mothers were confirmed to be carriers. No CNV was detected in the remainder fetus by chromosomal microarray analysis, while its mother was a carrier of the corresponding CNV. CONCLUSION: NIPT has shown a relatively high positive predictive value for the screening of trisomy 21 and maternal CNVs but with a limited efficiency for the discovery of fetal CNVs. For other genetic abnormalities signaled by NIPT, informed choice by the pregnant women during pre-testing consultation is recommended. Invasive prenatal diagnosis should be considered in the combination of NIPT reports and fetal ultrasound, while the residual risks should be fully informed.

Vacuum Quenching for Large-Area Perovskite Film Deposition.

The removal of precursor solvents in perovskite wet films plays a vital role in controlling the quality of perovskite films and devices. The dripping antisolvent method (removing precursor solvents) has made great advances in small-area devices, but this method limits the preparation of large-area perovskite films. Vacuum quenching that evaporates solvents by dropping the pressure is a potential large-area manufacturing approach. Herein, we have conducted a systematic comparative study on these two methods of depositing perovskite films. It is found that vacuum quenching can obtain the same film quality and small-area device efficiency (∼22.5%) as the antisolvent method. However, on a large-area substrate, the fast vacuum quenching rate improves the solvent evaporation efficiency and nucleation density (i.e., forming a large number of crystal nuclei), thereby obtaining a more uniform and stable perovskite film. Notably, the manufacture window exceeds 10 min. As a result, the champion large-area (6 × 6 cm2) perovskite solar module exhibits an impressive efficiency (17.86%) and long-term operational stability. Furthermore, coupling slot-die coating, vacuum quenching can realize the industrial continuous deposition of large-area perovskite films, which is a potential route for large-scale production.

[Analysis of related phenotype of prenatal cases with copy number variations in various region of 22q11.2].

OBJECTIVE: To analyze the prenatal ultrasound phenotypes of copy number variations (CNVs) in different regions of 22q11.2, their parental original, and pregnancy outcome. METHODS: Prenatal phenotypes of 25 cases with CNVs of the 22q11.2 region detected by chromosomal microarray analysis (CMA) was reviewed, which including There were 13 deletions and 12 duplications. Multiplex ligation-dependent probe amplification(MLPA) was carried out to determine their parental origin. All cases were followed up for their pregnancy outcome and postnatal growth. RESULTS: Among the 25 cases, the ultrasound phenotypes of those involving the TBX1 gene were mostly cardiovascular system abnormalities, the ultrasound phenotypes of cases involving CRKL gene are mostly polycystic renal dysplasia. The ultrasound phenotypes of CNVs in the distal region (involving the SMARCB1 gene) are nervous system abnormalities. 12 cases (48%) of CNVs were de novo in origin. Five cases were lost during follow-up,12 had opted to terminate the pregnancy, 8 fetuses were born,7 with normal growth and development, 1 case with CNV in A-D region was abnormal.Prenatal ultrasound showed abnormalities in the cardiovascular system consistent with postnatal ultrasound, in addition with dysphagia and growth retardation. CONCLUSION: Prenatal phenotypes of the 22q11.2 region CNVs are diverse, which may be related to gene function. NT thickening may be used as an early ultrasound finding of proximal 22q11.2 CNV. More research is still required to delineate the nature of CNVs and gene function, so as to facilitate genetic counseling.

Three-dimensional perovskite nanowire array-based ultrafast resistive RAM with ultralong data retention.

Resistive random access memories (Re-RAMs) have transpired as a foremost candidate among emerging nonvolatile memory technologies with a potential to bridge the gap between the traditional volatile and fast dynamic RAMs and the nonvolatile and slow FLASH memories. Here, we report electrochemical metallization (ECM) Re-RAMs based on high-density three-dimensional halide perovskite nanowires (NWs) array as the switching layer clubbed between silver and aluminum contacts. NW Re-RAMs made of three types of methyl ammonium lead halide perovskites (MAPbX3; X = Cl, Br, I) have been explored. A trade-off between device switching speed and retention time was intriguingly found. Ultrafast switching speed (200 ps) for monocrystalline MAPbI3 and ~7 × 109 s ultralong extrapolated retention time for polycrystalline MAPbCl3 NW devices were obtained. Further, first-principles calculation revealed that Ag diffusion energy barrier increases when lattice size shrinks from MAPbI3 to MAPbCl3, culminating in the trade-off between the device switching speed and retention time.

Down-Scalable and Ultra-fast Memristors with Ultra-high Density Three-Dimensional Arrays of Perovskite Quantum Wires.

With strikingly high speed, data retention ability and storage density, resistive RAMs have emerged as a forerunning nonvolatile memory. Here we developed a Re-RAM with ultra-high density array of monocrystalline perovskite quantum wires (QWs) as the switching matrix with a metallic silver conducting pathway. The devices demonstrated high ON/OFF ratio of ∼107 and ultra-fast switching speed of ∼100 ps which is among the fastest in literature. The devices also possess long retention time of over 2 years and record high endurance of ∼6 × 106 cycles for all perovskite Re-RAMs reported. As a concept proof, we have also successfully demonstrated a flexible Re-RAM crossbar array device with a metal-semiconductor-insulator-metal design for sneaky path mitigation, which can store information with long retention. Aggressive downscaling to ∼14 nm lateral dimension produced an ultra-small cell effectively having 76.5 nm2 area for single bit storage. Furthermore, the devices also exhibited unique optical programmability among the low resistance states.

Prenatal features of 17q12 microdeletion and microduplication syndromes: A retrospective case series.

OBJECTIVE: To present the experience on prenatal features of 17q12 microdeletion and microduplication syndromes. MATERIALS AND METHODS: Prenatal chromosomal microarray analysis (CMA) were conducted between January 2015 and December 2018 at a single Chinese tertiary medical centre. Information of cases identified with 17q12 microdeletion or microduplication syndromes were retrospectively collected. Foetal ultrasonographic findings were reviewed, and other information about the gestation week at diagnosis, inheritance and pregnancy outcomes were also included. RESULTS: Ten pregnancies with 17q12 microdeletion and 4 with 17q12 microduplication were identified. The copy number variation (CNV) sizes were 1.39-1.94 Mb in the deleted cases and 1.42-1.48 Mb in the duplicated cases, respectively. All the duplicated and deleted regions included HNF1B and LHX1 genes. Most individuals with 17q12 deletion presented kidney anomalies (9/10), with renal hyperechogenicity being the most common finding (7/10). Fetuses with 17q12 duplication presented a wide phenotypic spectrum, including "double bubble" sign, structural anomalies of the heart and growth anomalies. CONCLUSIONS: Our experience further demonstrated the high correlation between 17q12 microdeletion and renal anomalies especially hyperechogenic kidneys. Structural anomalies of the heart were newly identified phenotypes of 17q12 duplication during prenatal period. Besides, growth anomalies and duodenal atresia might be associated with the duplication.

Post-Treating the Precursor Intermediate Film by a Cooling Stage for Fabricating Efficient Formamidinium-Based Perovskite Solar Cells.

Formamidinium lead iodide (FAPbI3) is a category of perovskite material with an ideal band gap and high thermal stability, which can be efficiently prepared by two-step spin-coating. Spin-coating organic salts and transforming intermediate phase at the second step involves a components' reaction and state transition, thus playing a crucial role in the film quality formed afterward and optoelectronic properties of the fabricated perovskite solar cells (PSCs). In this paper, a cooling stage (CO) is used to post-treat the as-prepared precursor after the second spin-coating. The procedure of intermediate phase transferring to other state is found to be retarded; hence, the appearing velocity of perovskite nucleation is decreased. As a result, components react more adequately and larger perovskite grains with fewer defects are obtained; charge transport as well as carrier recommbination behaviors are therefore optimized. The PSCs based on the CO process achieved a champion power conversion efficiency (PCE) of 21.51% with enhanced stability. Moreover, CO treatment is observed to be beneficial for improving the film quality of perovskite in large-area preparation, which we anticipate can be further extended to the commercialized application of PSCs.

High-Performance Large-Area Perovskite Solar Cells Enabled by Confined Space Sublimation.

Large-area devices with high power-conversion efficiency (PCE) are required for the further development of perovskite solar cells (PSCs). However, the major obstacle restricting the commercialization of large-area PSCs is the lack of reliable deposition technology for scalable perovskite thin films. Herein, a confined space sublimation method compatible with the preparation of a large-area perovskite film is introduced. First, pure PbX2 (X is I, Br, and Cl) films are exposed to CH3NH3I vapor, and the gas-solid reaction mechanisms for different lead halide layers are investigated; the perovskite films fabricated by retarded displacement between multiple halogens show large grains and a controllable band gap. Then, through mixed halogen adjustments of the PbX2 film, a maximum PCE of 20.44% (0.07 cm2) for high-efficiency PSCs with large grains (over 2.0 µm) is obtained, while the fabrication of wide-band gap PSCs with a champion PCE of 17.99% (0.07 cm2) verified the band gap-controlled compatibility of the confined space sublimation approach. Furthermore, the confined space sublimation approach is applied to fabricate large-area (6.75 cm2) devices with uniform photovoltaic performance, demonstrating the scalable potential of this approach.

A biomimetic eye with a hemispherical perovskite nanowire array retina.

Human eyes possess exceptional image-sensing characteristics such as an extremely wide field of view, high resolution and sensitivity with low aberration1. Biomimetic eyes with such characteristics are highly desirable, especially in robotics and visual prostheses. However, the spherical shape and the retina of the biological eye pose an enormous fabrication challenge for biomimetic devices2,3. Here we present an electrochemical eye with a hemispherical retina made of a high-density array of nanowires mimicking the photoreceptors on a human retina. The device design has a high degree of structural similarity to a human eye with the potential to achieve high imaging resolution when individual nanowires are electrically addressed. Additionally, we demonstrate the image-sensing function of our biomimetic device by reconstructing the optical patterns projected onto the device. This work may lead to biomimetic photosensing devices that could find use in a wide spectrum of technological applications.